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Name

Human IO

#2108

Species

Homo sapiens

# Genes

487

# Serial Genes

Description

Covers key immune and cancer cell types, biomarkers, and pathways, with broad cell type markers for context.

Genes & Annotations

Reactome is a database of signaling and metabolic molecules organized into heirarchical pathways and relationships. Here we show the high level 'Disease' pathways. You can click on the pathway to see the full heirarchy and which levels are impacted by genes in the panel.

Annotation	Genes
Aberrant regulation of mitotic cell cycle due to RB1 defects Pathway Hierarchies & Genes Aberrant regulation of mitotic exit in cancer due to RB1 defects (9 genes) Disease Diseases of mitotic cell cycle Aberrant regulation of mitotic cell cycle due to RB1 defects Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) 8 genes Aberrant regulation of mitotic exit in cancer due to RB1 defects 1 genes	CCND1 Gene Information Basic Information Ensembl ID: ENSG00000110092 Description: cyclin D1 [Source:HGNC Symbol;Acc:HGNC:1582] Location: 11:69641156-69654474 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell pericyte monocyte fibroblast glial cell dendritic cell pancreatic cell M cell oligodendrocyte Other: Cytokine Signaling in Immune system Signaling by NOTCH Chromatin modifying enzymes CCND3 Gene Information Basic Information Ensembl ID: ENSG00000112576 Description: cyclin D3 [Source:HGNC Symbol;Acc:HGNC:1585] Location: 6:41934934-42050357 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell natural killer cell developing T cell epithelial cell CD4+ T cell lymphoid progenitor cell T cell hematopoietic cell Specialized T cell memory T cell lymphocyte megakaryocyte Other: MAPK family signaling cascades Cell Cycle, Mitotic RNA Polymerase II Transcription CCNE1 Gene Information Basic Information Ensembl ID: ENSG00000105173 Description: cyclin E1 [Source:HGNC Symbol;Acc:HGNC:1589] Location: 19:29811991-29824312 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell Other: Cellular responses to stress Protein folding Synthesis of DNA CDK2 Gene Information Basic Information Ensembl ID: ENSG00000123374 Description: cyclin dependent kinase 2 [Source:HGNC Symbol;Acc:HGNC:1771] Location: 12:55966781-55972789 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Meiosis Cellular responses to stress DNA Double-Strand Break Repair CDK4 Gene Information Basic Information Ensembl ID: ENSG00000135446 Description: cyclin dependent kinase 4 [Source:HGNC Symbol;Acc:HGNC:1773] Location: 12:57747727-57756013 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: T cell schwann cell progenitor cell neural crest cell Other: Adipogenesis Meiosis Cellular responses to stress CDK6 Gene Information Basic Information Ensembl ID: ENSG00000105810 Description: cyclin dependent kinase 6 [Source:HGNC Symbol;Acc:HGNC:1777] Location: 7:92604921-92836573 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell skeletal muscle cell hematopoietic stem cell fibroblast lymphoid progenitor cell progenitor cell mesangial cell megakaryocyte hematopoietic progenitor cell Other: Cellular responses to stress Cell Cycle, Mitotic RNA Polymerase II Transcription CDKN1A Gene Information Basic Information Ensembl ID: ENSG00000124762 Description: cyclin dependent kinase inhibitor 1A [Source:HGNC Symbol;Acc:HGNC:1784] Location: 6:36676460-36687397 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte dendritic cell smooth muscle cell fibroblast muscle cell monocyte Other: Cytokine Signaling in Immune system Cellular responses to stress Post-translational protein modification E2F1 Gene Information Basic Information Ensembl ID: ENSG00000101412 Description: E2F transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:3113] Location: 20:33675477-33686385 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Signaling by NOTCH Cellular responses to stress RB1 Gene Information Basic Information Ensembl ID: ENSG00000139687 Description: RB transcriptional corepressor 1 [Source:HGNC Symbol;Acc:HGNC:9884] Location: 13:48303744-48599436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell endothelial cell microglia neuron Other: Epigenetic regulation of gene expression Cellular responses to stress Cell junction organization
Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate Pathway Hierarchies & Genes Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate (1 genes) Disease Diseases of metabolism Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate 1 genes	IDH1 Gene Information Basic Information Ensembl ID: ENSG00000138413 Description: isocitrate dehydrogenase (NADP(+)) 1 [Source:HGNC Symbol;Acc:HGNC:5382] Location: 2:208236229-208266074 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Metabolism of vitamins and cofactors Cellular responses to stress
Bacterial Infection Pathways Pathway Hierarchies & Genes Inhibition of nitric oxide production (1 genes) Disease Infectious disease Bacterial Infection Pathways Infection with Mycobacterium tuberculosis Response of Mtb to phagocytosis Suppression of phagosomal maturation Inhibition of nitric oxide production 1 genes Attachment of bacteria to epithelial cells (4 genes) Disease Infectious disease Bacterial Infection Pathways Infection with Enterobacteria Biofilm formation Attachment of bacteria to epithelial cells 4 genes Suppression of apoptosis (2 genes) Disease Infectious disease Bacterial Infection Pathways Infection with Mycobacterium tuberculosis Response of Mtb to phagocytosis Suppression of apoptosis 2 genes InlA-mediated entry of Listeria monocytogenes into host cells (2 genes) Disease Infectious disease Bacterial Infection Pathways Listeria monocytogenes entry into host cells InlA-mediated entry of Listeria monocytogenes into host cells 2 genes InlB-mediated entry of Listeria monocytogenes into host cell (1 genes) Disease Infectious disease Bacterial Infection Pathways Listeria monocytogenes entry into host cells InlB-mediated entry of Listeria monocytogenes into host cell 1 genes Modulation by Mtb of host immune system (2 genes) Disease Infectious disease Bacterial Infection Pathways Infection with Mycobacterium tuberculosis Modulation by Mtb of host immune system 2 genes Uptake and function of anthrax toxins (2 genes) Disease Infectious disease Bacterial Infection Pathways Uptake and actions of bacterial toxins Uptake and function of anthrax toxins 2 genes	CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT EPCAM Gene Information Basic Information Ensembl ID: ENSG00000119888 Description: epithelial cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:11529] Location: 2:47345158-47387601 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell epithelial cell tuft cell enterocyte fibroblast secretory cell keratinocyte hepatocyte cancer cell Other: Cell surface interactions at the vascular wall Developmental Cell Lineages Bacterial Infection Pathways LAMB3 Gene Information Basic Information Ensembl ID: ENSG00000196878 Description: laminin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6490] Location: 1:209614870-209652425 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell stem cell pancreatic cell goblet cell M cell Other: Degradation of the extracellular matrix Collagen formation Laminin interactions LAMC2 Gene Information Basic Information Ensembl ID: ENSG00000058085 Description: laminin subunit gamma 2 [Source:HGNC Symbol;Acc:HGNC:6493] Location: 1:183186238-183245127 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell goblet cell M cell stem cell Other: Degradation of the extracellular matrix Collagen formation Laminin interactions MAP2K1 Gene Information Basic Information Ensembl ID: ENSG00000169032 Description: mitogen-activated protein kinase kinase 1 [Source:HGNC Symbol;Acc:HGNC:6840] Location: 15:66386837-66491656 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Innate Immune System MAPK family signaling cascades MAP2K4 Gene Information Basic Information Ensembl ID: ENSG00000065559 Description: mitogen-activated protein kinase kinase 4 [Source:HGNC Symbol;Acc:HGNC:6844] Location: 17:12020829-12143830 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell Other: Cytokine Signaling in Immune system Innate Immune System Cellular responses to stress MAPK1 Gene Information Basic Information Ensembl ID: ENSG00000100030 Description: mitogen-activated protein kinase 1 [Source:HGNC Symbol;Acc:HGNC:6871] Location: 22:21759657-21867680 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MAPK3 Gene Information Basic Information Ensembl ID: ENSG00000102882 Description: mitogen-activated protein kinase 3 [Source:HGNC Symbol;Acc:HGNC:6877] Location: 16:30114105-30123506 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers MRC1 Gene Information Basic Information Ensembl ID: ENSG00000260314 Description: mannose receptor C-type 1 [Source:HGNC Symbol;Acc:HGNC:7228] Location: 10:17809348-17911164 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell macrophage dendritic cell phagocyte myeloid cell antigen presenting cell hematopoietic cell microglia Other: Adaptive Immune System Bacterial Infection Pathways NOS2 Gene Information Basic Information Ensembl ID: ENSG00000007171 Description: nitric oxide synthase 2 [Source:HGNC Symbol;Acc:HGNC:7873] Location: 17:27756766-27800529 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Innate Immune System Platelet homeostasis TLR2 Gene Information Basic Information Ensembl ID: ENSG00000137462 Description: toll like receptor 2 [Source:HGNC Symbol;Acc:HGNC:11848] Location: 4:153684050-153706260 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage phagocyte microglia granulocyte neutrophil Other: Adaptive Immune System Innate Immune System Diseases associated with the TLR signaling cascade
Defective Intrinsic Pathway for Apoptosis Pathway Hierarchies & Genes Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models (2 genes) Disease Diseases of programmed cell death Defective Intrinsic Pathway for Apoptosis Neurodegenerative Diseases Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models 2 genes Loss of function of TP53 in cancer due to loss of tetramerization ability (1 genes) Disease Diseases of programmed cell death Defective Intrinsic Pathway for Apoptosis Loss of Function of TP53 in Cancer Loss of function of TP53 in cancer due to loss of tetramerization ability 1 genes	CDC25C Gene Information Basic Information Ensembl ID: ENSG00000158402 Description: cell division cycle 25C [Source:HGNC Symbol;Acc:HGNC:1727] Location: 5:138285269-138338355 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cell Cycle, Mitotic Cell Cycle Checkpoints RNA Polymerase II Transcription FASLG Gene Information Basic Information Ensembl ID: ENSG00000117560 Description: Fas ligand [Source:HGNC Symbol;Acc:HGNC:11936] Location: 1:172659103-172666876 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell T cell Specialized T cell CD8+ T cell Other: Apoptosis Cytokine Signaling in Immune system Regulated Necrosis TP53 Gene Information Basic Information Ensembl ID: ENSG00000141510 Description: tumor protein p53 [Source:HGNC Symbol;Acc:HGNC:11998] Location: 17:7661779-7687546 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Signaling by NOTCH
Defective RIPK1-mediated regulated necrosis Pathway Hierarchies & Genes Microbial modulation of RIPK1-mediated regulated necrosis (1 genes) Disease Diseases of programmed cell death Defective RIPK1-mediated regulated necrosis Microbial modulation of RIPK1-mediated regulated necrosis 1 genes Defective RIPK1-mediated regulated necrosis (2 genes) Disease Diseases of programmed cell death Defective RIPK1-mediated regulated necrosis 2 genes	CASP8 Gene Information Basic Information Ensembl ID: ENSG00000064012 Description: caspase 8 [Source:HGNC Symbol;Acc:HGNC:1509] Location: 2:201233443-201361836 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Innate Immune System FADD Gene Information Basic Information Ensembl ID: ENSG00000168040 Description: Fas associated via death domain [Source:HGNC Symbol;Acc:HGNC:3573] Location: 11:70203296-70207390 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Innate Immune System Regulated Necrosis TRAF2 Gene Information Basic Information Ensembl ID: ENSG00000127191 Description: TNF receptor associated factor 2 [Source:HGNC Symbol;Acc:HGNC:12032] Location: 9:136881912-136929221 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Innate Immune System
Defective pyroptosis Pathway Hierarchies & Genes Defective pyroptosis (3 genes) Disease Diseases of programmed cell death Defective pyroptosis 3 genes	DNMT1 Gene Information Basic Information Ensembl ID: ENSG00000130816 Description: DNA methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:2976] Location: 19:10133342-10231286 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell lymphoid progenitor cell Follicular B cell Other: Epigenetic regulation of gene expression Post-translational protein modification Signaling by Receptor Tyrosine Kinases DNMT3A Gene Information Basic Information Ensembl ID: ENSG00000119772 Description: DNA methyltransferase 3 alpha [Source:HGNC Symbol;Acc:HGNC:2978] Location: 2:25227855-25342590 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Defective pyroptosis Epigenetic regulation of gene expression Chromatin modifying enzymes EZH2 Gene Information Basic Information Ensembl ID: ENSG00000106462 Description: enhancer of zeste 2 polycomb repressive complex 2 subunit [Source:HGNC Symbol;Acc:HGNC:3527] Location: 7:148807257-148884321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell Other: Epigenetic regulation of gene expression Cellular responses to stress Chromatin modifying enzymes
Diseases associated with surfactant metabolism Pathway Hierarchies & Genes Defective CSF2RA causes SMDP4 (2 genes) Disease Diseases of metabolism Diseases associated with surfactant metabolism Defective CSF2RB causes SMDP5 Defective CSF2RA causes SMDP4 2 genes	CSF2RA Gene Information Basic Information Ensembl ID: ENSG00000198223 Description: colony stimulating factor 2 receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:2435] Location: X:1268793-1325373 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron dendritic cell macrophage phagocyte microglia monocyte antigen presenting cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Surfactant metabolism CSF2RB Gene Information Basic Information Ensembl ID: ENSG00000100368 Description: colony stimulating factor 2 receptor subunit beta [Source:HGNC Symbol;Acc:HGNC:2436] Location: 22:36913628-36940439 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell mast cell antigen presenting cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Surfactant metabolism
Diseases associated with the TLR signaling cascade Pathway Hierarchies & Genes IRAK4 deficiency (TLR2/4) (6 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade MyD88 deficiency (TLR2/4) MyD88 deficiency (TLR5) 5 genes IRAK4 deficiency (TLR5) IRAK4 deficiency (TLR2/4) 1 genes TRAF3 deficiency - HSE (1 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade TLR3 deficiency - HSE UNC93B1 deficiency - HSE TICAM1 deficiency - HSE TRAF3 deficiency - HSE 1 genes IkBA variant leads to EDA-ID (2 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade IKBKB deficiency causes SCID IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) IkBA variant leads to EDA-ID 2 genes IRAK4 deficiency (TLR2/4) (1 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade IRAK4 deficiency (TLR5) IRAK4 deficiency (TLR2/4) 1 genes IRAK4 deficiency (TLR5) (1 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade MyD88 deficiency (TLR5) IRAK4 deficiency (TLR5) 1 genes TRAF3 deficiency - HSE (1 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade TICAM1 deficiency - HSE TRAF3 deficiency - HSE 1 genes Defective regulation of TLR7 by endogenous ligand (1 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade Defective regulation of TLR7 by endogenous ligand 1 genes IkBA variant leads to EDA-ID (3 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade IkBA variant leads to EDA-ID 3 genes	BTK Gene Information Basic Information Ensembl ID: ENSG00000010671 Description: Bruton tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:1133] Location: X:101349338-101390796 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Naive B cell mast cell granulocyte Other: Adaptive Immune System Innate Immune System Signaling by GPCR CD14 Gene Information Basic Information Ensembl ID: ENSG00000170458 Description: CD14 molecule [Source:HGNC Symbol;Acc:HGNC:1628] Location: 5:140631728-140633700 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage dendritic cell phagocyte myeloid cell antigen presenting cell monocyte Other: Apoptosis Adaptive Immune System Innate Immune System CHUK Gene Information Basic Information Ensembl ID: ENSG00000213341 Description: component of inhibitor of nuclear factor kappa B kinase complex [Source:HGNC Symbol;Acc:HGNC:1974] Location: 10:100188300-100229596 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Intracellular signaling by second messengers Cytokine Signaling in Immune system Adaptive Immune System IKBKB Gene Information Basic Information Ensembl ID: ENSG00000104365 Description: inhibitor of nuclear factor kappa B kinase subunit beta [Source:HGNC Symbol;Acc:HGNC:5960] Location: 8:42271302-42332460 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell secretory cell T cell Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System IRAK4 Gene Information Basic Information Ensembl ID: ENSG00000198001 Description: interleukin 1 receptor associated kinase 4 [Source:HGNC Symbol;Acc:HGNC:17967] Location: 12:43758944-43798307 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Innate Immune System Intracellular signaling by second messengers MYD88 Gene Information Basic Information Ensembl ID: ENSG00000172936 Description: MYD88 innate immune signal transduction adaptor [Source:HGNC Symbol;Acc:HGNC:7562] Location: 3:38138552-38143024 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: monocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System NFKB1 Gene Information Basic Information Ensembl ID: ENSG00000109320 Description: nuclear factor kappa B subunit 1 [Source:HGNC Symbol;Acc:HGNC:7794] Location: 4:102501330-102617302 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System NFKB2 Gene Information Basic Information Ensembl ID: ENSG00000077150 Description: nuclear factor kappa B subunit 2 [Source:HGNC Symbol;Acc:HGNC:7795] Location: 10:102394110-102402524 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: CD4+ T cell Other: Cytokine Signaling in Immune system Innate Immune System Chromatin modifying enzymes RELA Gene Information Basic Information Ensembl ID: ENSG00000173039 Description: RELA proto-oncogene%2C NF-kB subunit [Source:HGNC Symbol;Acc:HGNC:9955] Location: 11:65653599-65663090 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System TICAM1 Gene Information Basic Information Ensembl ID: ENSG00000127666 Description: TIR domain containing adaptor molecule 1 [Source:HGNC Symbol;Acc:HGNC:18348] Location: 19:4815932-4831712 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Innate Immune System Diseases associated with the TLR signaling cascade TLR1 Gene Information Basic Information Ensembl ID: ENSG00000174125 Description: toll like receptor 1 [Source:HGNC Symbol;Acc:HGNC:11847] Location: 4:38787555-38856817 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Adaptive Immune System Innate Immune System Diseases associated with the TLR signaling cascade TLR2 Gene Information Basic Information Ensembl ID: ENSG00000137462 Description: toll like receptor 2 [Source:HGNC Symbol;Acc:HGNC:11848] Location: 4:153684050-153706260 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage phagocyte microglia granulocyte neutrophil Other: Adaptive Immune System Innate Immune System Diseases associated with the TLR signaling cascade TLR3 Gene Information Basic Information Ensembl ID: ENSG00000164342 Description: toll like receptor 3 [Source:HGNC Symbol;Acc:HGNC:11849] Location: 4:186068911-186088073 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Diseases associated with the TLR signaling cascade Viral Infection Pathways TLR4 Gene Information Basic Information Ensembl ID: ENSG00000136869 Description: toll like receptor 4 [Source:HGNC Symbol;Acc:HGNC:11850] Location: 9:117704175-117724735 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell myeloid cell Other: Apoptosis Adaptive Immune System Innate Immune System TLR5 Gene Information Basic Information Ensembl ID: ENSG00000187554 Description: toll like receptor 5 [Source:HGNC Symbol;Acc:HGNC:11851] Location: 1:223109404-223143292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Diseases associated with the TLR signaling cascade Innate Immune System TLR7 Gene Information Basic Information Ensembl ID: ENSG00000196664 Description: toll like receptor 7 [Source:HGNC Symbol;Acc:HGNC:15631] Location: X:12867072-12890361 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: Diseases associated with the TLR signaling cascade Viral Infection Pathways Innate Immune System
Diseases of Cellular Senescence Pathway Hierarchies & Genes Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 (1 genes) Disease Diseases of cellular response to stress Diseases of Cellular Senescence Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 1 genes Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 (1 genes) Disease Diseases of cellular response to stress Diseases of Cellular Senescence Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 1 genes	CDK4 Gene Information Basic Information Ensembl ID: ENSG00000135446 Description: cyclin dependent kinase 4 [Source:HGNC Symbol;Acc:HGNC:1773] Location: 12:57747727-57756013 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: T cell schwann cell progenitor cell neural crest cell Other: Adipogenesis Meiosis Cellular responses to stress CDK6 Gene Information Basic Information Ensembl ID: ENSG00000105810 Description: cyclin dependent kinase 6 [Source:HGNC Symbol;Acc:HGNC:1777] Location: 7:92604921-92836573 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell skeletal muscle cell hematopoietic stem cell fibroblast lymphoid progenitor cell progenitor cell mesangial cell megakaryocyte hematopoietic progenitor cell Other: Cellular responses to stress Cell Cycle, Mitotic RNA Polymerase II Transcription
Diseases of DNA Double-Strand Break Repair Pathway Hierarchies & Genes Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function (4 genes) Disease Diseases of DNA repair Diseases of DNA Double-Strand Break Repair Defective DNA double strand break response due to BRCA1 loss of function Defective DNA double strand break response due to BARD1 loss of function 1 genes Defective homologous recombination repair (HRR) due to BRCA2 loss of function Impaired BRCA2 binding to RAD51 Defective homologous recombination repair (HRR) due to BRCA1 loss of function 2 genes Defective homologous recombination repair (HRR) due to PALB2 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function 1 genes	ATM Gene Information Basic Information Ensembl ID: ENSG00000149311 Description: ATM serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:795] Location: 11:108222804-108369102 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell T cell phagocyte hematopoietic cell Specialized T cell developing T cell Naive B cell lymphocyte Other: Meiosis Macroautophagy Cellular responses to stress ATR Gene Information Basic Information Ensembl ID: ENSG00000175054 Description: ATR serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:882] Location: 3:142449007-142578733 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Meiosis Cellular responses to stress DNA Double-Strand Break Repair BRCA1 Gene Information Basic Information Ensembl ID: ENSG00000012048 Description: BRCA1 DNA repair associated [Source:HGNC Symbol;Acc:HGNC:1100] Location: 17:43044295-43170245 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: cancer cell Other: Meiosis Cellular responses to stress DNA Double-Strand Break Repair RAD51 Gene Information Basic Information Ensembl ID: ENSG00000051180 Description: RAD51 recombinase [Source:HGNC Symbol;Acc:HGNC:9817] Location: 15:40694774-40732340 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Meiosis DNA Double-Strand Break Repair RNA Polymerase II Transcription
Diseases of Mismatch Repair (MMR) Pathway Hierarchies & Genes Defective Mismatch Repair Associated With MSH6 (1 genes) Disease Diseases of DNA repair Diseases of Mismatch Repair (MMR) Defective Mismatch Repair Associated With MSH3 Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6 1 genes Defective Mismatch Repair Associated With MSH6 (1 genes) Disease Diseases of DNA repair Diseases of Mismatch Repair (MMR) Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6 1 genes Defective Mismatch Repair Associated With PMS2 (1 genes) Disease Diseases of DNA repair Diseases of Mismatch Repair (MMR) Defective Mismatch Repair Associated With MLH1 Defective Mismatch Repair Associated With PMS2 1 genes	MLH1 Gene Information Basic Information Ensembl ID: ENSG00000076242 Description: mutL homolog 1 [Source:HGNC Symbol;Acc:HGNC:7127] Location: 3:36993226-37050896 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Meiosis Mismatch Repair RNA Polymerase II Transcription MSH2 Gene Information Basic Information Ensembl ID: ENSG00000095002 Description: mutS homolog 2 [Source:HGNC Symbol;Acc:HGNC:7325] Location: 2:47403067-47663146 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Diseases of Mismatch Repair (MMR) Mismatch Repair RNA Polymerase II Transcription MSH6 Gene Information Basic Information Ensembl ID: ENSG00000116062 Description: mutS homolog 6 [Source:HGNC Symbol;Acc:HGNC:7329] Location: 2:47695530-47810063 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Diseases of Mismatch Repair (MMR) Mismatch Repair
Diseases of glycosylation Pathway Hierarchies & Genes Defective B3GALTL causes PpS (1 genes) Disease Diseases of metabolism Diseases of glycosylation Diseases associated with O-glycosylation of proteins Defective B3GALTL causes PpS 1 genes Defective GALNT3 causes HFTC (1 genes) Disease Diseases of metabolism Diseases of glycosylation Diseases associated with O-glycosylation of proteins Defective GALNT3 causes HFTC 1 genes Defective LFNG causes SCDO3 (2 genes) Disease Diseases of metabolism Diseases of glycosylation Diseases associated with O-glycosylation of proteins Defective LFNG causes SCDO3 2 genes	MUC1 Gene Information Basic Information Ensembl ID: ENSG00000185499 Description: mucin 1%2C cell surface associated [Source:HGNC Symbol;Acc:HGNC:7508] Location: 1:155185824-155192916 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pneumocyte goblet cell enterocyte secretory cell cancer cell Other: Cytokine Signaling in Immune system Innate Immune System Post-translational protein modification NOTCH1 Gene Information Basic Information Ensembl ID: ENSG00000148400 Description: notch receptor 1 [Source:HGNC Symbol;Acc:HGNC:7881] Location: 9:136494433-136546048 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte T cell stem cell cancer cell Other: Signaling by NOTCH Regulation of beta-cell development Cellular responses to stress NOTCH2 Gene Information Basic Information Ensembl ID: ENSG00000134250 Description: notch receptor 2 [Source:HGNC Symbol;Acc:HGNC:7882] Location: 1:119911553-120100779 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell Other: Signaling by NOTCH RNA Polymerase II Transcription Diseases of glycosylation THBS1 Gene Information Basic Information Ensembl ID: ENSG00000137801 Description: thrombospondin 1 [Source:HGNC Symbol;Acc:HGNC:11785] Location: 15:39581079-39599466 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell epithelial cell macrophage fibroblast phagocyte stromal cell smooth muscle cell monocyte neutrophil megakaryocyte pericyte Other: Diseases of glycosylation Integrin cell surface interactions Non-integrin membrane-ECM interactions
Disorders of Nervous System Development Pathway Hierarchies & Genes Loss of MECP2 binding ability to the NCoR/SMRT complex (1 genes) Disease Disorders of Developmental Biology Disorders of Nervous System Development Pervasive developmental disorders Loss of function of MECP2 in Rett syndrome Loss of MECP2 binding ability to the NCoR/SMRT complex 1 genes	HDAC3 Gene Information Basic Information Ensembl ID: ENSG00000171720 Description: histone deacetylase 3 [Source:HGNC Symbol;Acc:HGNC:4854] Location: 5:141620876-141636849 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Death Receptor Signaling Signaling by NOTCH Mitochondrial biogenesis
FLT3 signaling in disease Pathway Hierarchies & Genes FLT3 signaling by CBL mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers FLT3 signaling in disease Drug resistance of FLT3 mutants KW2449-resistant FLT3 mutants FLT3 mutants bind TKIs Signaling by FLT3 ITD and TKD mutants STAT5 activation downstream of FLT3 ITD mutants FLT3 signaling by CBL mutants 1 genes Signaling by FLT3 fusion proteins (5 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers FLT3 signaling in disease Signaling by FLT3 ITD and TKD mutants STAT5 activation downstream of FLT3 ITD mutants 2 genes Signaling by FLT3 fusion proteins 3 genes Signaling by FLT3 ITD and TKD mutants (4 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers FLT3 signaling in disease Signaling by FLT3 fusion proteins Signaling by FLT3 ITD and TKD mutants 4 genes	BCL2L1 Gene Information Basic Information Ensembl ID: ENSG00000171552 Description: BCL2 like 1 [Source:HGNC Symbol;Acc:HGNC:992] Location: 20:31664452-31723989 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Innate Immune System CDKN1A Gene Information Basic Information Ensembl ID: ENSG00000124762 Description: cyclin dependent kinase inhibitor 1A [Source:HGNC Symbol;Acc:HGNC:1784] Location: 6:36676460-36687397 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte dendritic cell smooth muscle cell fibroblast muscle cell monocyte Other: Cytokine Signaling in Immune system Cellular responses to stress Post-translational protein modification FLT3 Gene Information Basic Information Ensembl ID: ENSG00000122025 Description: fms related receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3765] Location: 13:28003274-28100592 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: MAPK family signaling cascades Cytokine Signaling in Immune system Intracellular signaling by second messengers HRAS Gene Information Basic Information Ensembl ID: ENSG00000174775 Description: HRas proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:5173] Location: 11:532242-537321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Adaptive Immune System KRAS Gene Information Basic Information Ensembl ID: ENSG00000133703 Description: KRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:6407] Location: 12:25205246-25250936 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Non-Receptor Tyrosine Kinases Transmission across Chemical Synapses Cytokine Signaling in Immune system NRAS Gene Information Basic Information Ensembl ID: ENSG00000213281 Description: NRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:7989] Location: 1:114704469-114716771 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell cancer cell Other: Signaling by Erythropoietin Signaling by Non-Receptor Tyrosine Kinases Signaling by Nuclear Receptors PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System PTPN11 Gene Information Basic Information Ensembl ID: ENSG00000179295 Description: protein tyrosine phosphatase non-receptor type 11 [Source:HGNC Symbol;Acc:HGNC:9644] Location: 12:112418351-112509918 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System STAT5A Gene Information Basic Information Ensembl ID: ENSG00000126561 Description: signal transducer and activator of transcription 5A [Source:HGNC Symbol;Acc:HGNC:11366] Location: 17:42287547-42311943 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell CD4+ T cell adipocyte Other: Cytokine Signaling in Immune system Signaling by Leptin Signaling by Erythropoietin STAT5B Gene Information Basic Information Ensembl ID: ENSG00000173757 Description: signal transducer and activator of transcription 5B [Source:HGNC Symbol;Acc:HGNC:11367] Location: 17:42199176-42288633 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell CD4+ T cell Other: Cytokine Signaling in Immune system Signaling by Leptin Signaling by Erythropoietin
Oncogenic MAPK signaling Pathway Hierarchies & Genes Signaling by RAF1 mutants (5 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Oncogenic MAPK signaling Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by RAS mutants Signaling downstream of RAS mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF 1 genes Signaling by MAP2K mutants 1 genes Signaling by MAPK mutants 2 genes Signaling by RAF1 mutants 1 genes Signaling by RAF1 mutants (3 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Oncogenic MAPK signaling Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by RAS mutants RAS GTPase cycle mutants Signaling by RAS GAP mutants Signaling by BRAF and RAF1 fusions RAS signaling downstream of NF1 loss-of-function variants Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling by RAF1 mutants 3 genes RAS signaling downstream of NF1 loss-of-function variants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Oncogenic MAPK signaling RAS signaling downstream of NF1 loss-of-function variants 1 genes Signaling by MAPK mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Oncogenic MAPK signaling Signaling by MAPK mutants 1 genes	DUSP6 Gene Information Basic Information Ensembl ID: ENSG00000139318 Description: dual specificity phosphatase 6 [Source:HGNC Symbol;Acc:HGNC:3072] Location: 12:89347235-89352501 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell phagocyte mast cell monocyte granulocyte myeloid cell innate lymphoid cell Other: Cytokine Signaling in Immune system Innate Immune System MAPK family signaling cascades HRAS Gene Information Basic Information Ensembl ID: ENSG00000174775 Description: HRas proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:5173] Location: 11:532242-537321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Adaptive Immune System ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall JAK2 Gene Information Basic Information Ensembl ID: ENSG00000096968 Description: Janus kinase 2 [Source:HGNC Symbol;Acc:HGNC:6192] Location: 9:4984390-5129948 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast basophil dendritic cell Other: Chromatin modifying enzymes Cytokine Signaling in Immune system Signaling by Leptin KRAS Gene Information Basic Information Ensembl ID: ENSG00000133703 Description: KRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:6407] Location: 12:25205246-25250936 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Non-Receptor Tyrosine Kinases Transmission across Chemical Synapses Cytokine Signaling in Immune system MAP2K1 Gene Information Basic Information Ensembl ID: ENSG00000169032 Description: mitogen-activated protein kinase kinase 1 [Source:HGNC Symbol;Acc:HGNC:6840] Location: 15:66386837-66491656 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Innate Immune System MAPK family signaling cascades MAPK1 Gene Information Basic Information Ensembl ID: ENSG00000100030 Description: mitogen-activated protein kinase 1 [Source:HGNC Symbol;Acc:HGNC:6871] Location: 22:21759657-21867680 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MAPK3 Gene Information Basic Information Ensembl ID: ENSG00000102882 Description: mitogen-activated protein kinase 3 [Source:HGNC Symbol;Acc:HGNC:6877] Location: 16:30114105-30123506 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL NF1 Gene Information Basic Information Ensembl ID: ENSG00000196712 Description: neurofibromin 1 [Source:HGNC Symbol;Acc:HGNC:7765] Location: 17:31094927-31382116 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell monocyte endothelial cell Other: MAPK family signaling cascades Oncogenic MAPK signaling NRAS Gene Information Basic Information Ensembl ID: ENSG00000213281 Description: NRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:7989] Location: 1:114704469-114716771 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell cancer cell Other: Signaling by Erythropoietin Signaling by Non-Receptor Tyrosine Kinases Signaling by Nuclear Receptors
PI3K/AKT Signaling in Cancer Pathway Hierarchies & Genes Constitutive Signaling by AKT1 E17K in Cancer (7 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers PI3K/AKT Signaling in Cancer Constitutive Signaling by AKT1 E17K in Cancer 7 genes Constitutive Signaling by Aberrant PI3K in Cancer (29 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers PI3K/AKT Signaling in Cancer Constitutive Signaling by Aberrant PI3K in Cancer 29 genes	AKT1 Gene Information Basic Information Ensembl ID: ENSG00000142208 Description: AKT serine/threonine kinase 1 [Source:HGNC Symbol;Acc:HGNC:391] Location: 14:104769349-104795759 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Integrin signaling Apoptosis Cytokine Signaling in Immune system AKT2 Gene Information Basic Information Ensembl ID: ENSG00000105221 Description: AKT serine/threonine kinase 2 [Source:HGNC Symbol;Acc:HGNC:392] Location: 19:40230317-40285536 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: T cell Other: Apoptosis Cytokine Signaling in Immune system Adaptive Immune System AKT3 Gene Information Basic Information Ensembl ID: ENSG00000117020 Description: AKT serine/threonine kinase 3 [Source:HGNC Symbol;Acc:HGNC:393] Location: 1:243488233-243851079 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron epithelial cell T cell fibroblast glial cell CD8+ T cell schwann cell Specialized T cell excitatory neuron smooth muscle cell Other: Apoptosis Cytokine Signaling in Immune system Adaptive Immune System CD19 Gene Information Basic Information Ensembl ID: ENSG00000177455 Description: CD19 molecule [Source:HGNC Symbol;Acc:HGNC:1633] Location: 16:28931965-28939342 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell Follicular B cell Regulatory plasma cell cancer cell follicular cell plasmablast memory B cell fibroblast Other: Adaptive Immune System Innate Immune System Intracellular signaling by second messengers CD28 Gene Information Basic Information Ensembl ID: ENSG00000178562 Description: CD28 molecule [Source:HGNC Symbol;Acc:HGNC:1653] Location: 2:203706517-203739756 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell Regulatory T cell CD8+ T cell CD4+ T cell T cell Specialized T cell Other: Adaptive Immune System Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer CD80 Gene Information Basic Information Ensembl ID: ENSG00000121594 Description: CD80 molecule [Source:HGNC Symbol;Acc:HGNC:1700] Location: 3:119524293-119559614 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: Cytokine Signaling in Immune system Adaptive Immune System Intracellular signaling by second messengers CD86 Gene Information Basic Information Ensembl ID: ENSG00000114013 Description: CD86 molecule [Source:HGNC Symbol;Acc:HGNC:1705] Location: 3:122055362-122121139 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage phagocyte monocyte immune cell Other: Cytokine Signaling in Immune system Adaptive Immune System Intracellular signaling by second messengers CDKN1A Gene Information Basic Information Ensembl ID: ENSG00000124762 Description: cyclin dependent kinase inhibitor 1A [Source:HGNC Symbol;Acc:HGNC:1784] Location: 6:36676460-36687397 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte dendritic cell smooth muscle cell fibroblast muscle cell monocyte Other: Cytokine Signaling in Immune system Cellular responses to stress Post-translational protein modification CHUK Gene Information Basic Information Ensembl ID: ENSG00000213341 Description: component of inhibitor of nuclear factor kappa B kinase complex [Source:HGNC Symbol;Acc:HGNC:1974] Location: 10:100188300-100229596 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Intracellular signaling by second messengers Cytokine Signaling in Immune system Adaptive Immune System EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR ERBB3 Gene Information Basic Information Ensembl ID: ENSG00000065361 Description: erb-b2 receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3431] Location: 12:56076799-56103505 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron glial cell schwann cell neural crest cell progenitor cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Non-Receptor Tyrosine Kinases ESR1 Gene Information Basic Information Ensembl ID: ENSG00000091831 Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] Location: 6:151656691-152129619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell plasma cell Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription FGF18 Gene Information Basic Information Ensembl ID: ENSG00000156427 Description: fibroblast growth factor 18 [Source:HGNC Symbol;Acc:HGNC:3674] Location: 5:171419647-171457626 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FGF2 Gene Information Basic Information Ensembl ID: ENSG00000138685 Description: fibroblast growth factor 2 [Source:HGNC Symbol;Acc:HGNC:3676] Location: 4:122826682-122898236 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast glial cell adipocyte Other: Non-integrin membrane-ECM interactions Cytokine Signaling in Immune system Transcriptional regulation of pluripotent stem cells FGFR1 Gene Information Basic Information Ensembl ID: ENSG00000077782 Description: fibroblast growth factor receptor 1 [Source:HGNC Symbol;Acc:HGNC:3688] Location: 8:38400215-38468834 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell fibroblast epithelial cell stem cell stromal cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FGFR3 Gene Information Basic Information Ensembl ID: ENSG00000068078 Description: fibroblast growth factor receptor 3 [Source:HGNC Symbol;Acc:HGNC:3690] Location: 4:1793293-1808872 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell astrocyte epithelial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FLT3 Gene Information Basic Information Ensembl ID: ENSG00000122025 Description: fms related receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3765] Location: 13:28003274-28100592 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: MAPK family signaling cascades Cytokine Signaling in Immune system Intracellular signaling by second messengers FYN Gene Information Basic Information Ensembl ID: ENSG00000010810 Description: FYN proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:4037] Location: 6:111660332-111873452 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Cellular responses to mechanical stimuli HGF Gene Information Basic Information Ensembl ID: ENSG00000019991 Description: hepatocyte growth factor [Source:HGNC Symbol;Acc:HGNC:4893] Location: 7:81699010-81770438 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell fibroblast stromal cell bone cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Platelet activation, signaling and aggregation ICOS Gene Information Basic Information Ensembl ID: ENSG00000163600 Description: inducible T cell costimulator [Source:HGNC Symbol;Acc:HGNC:5351] Location: 2:203936763-203961577 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell Regulatory T cell CD4+ T cell memory T cell T helper cell T cell Other: Adaptive Immune System Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer IRS1 Gene Information Basic Information Ensembl ID: ENSG00000169047 Description: insulin receptor substrate 1 [Source:HGNC Symbol;Acc:HGNC:6125] Location: 2:226731312-226799820 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Signaling by Leptin MAPK family signaling cascades KIT Gene Information Basic Information Ensembl ID: ENSG00000157404 Description: KIT proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342] Location: 4:54657267-54740783 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell intercalated cell tuft cell brush cell mast cell progenitor cell stem cell melanocyte Specialized T cell hematopoietic progenitor cell hematopoietic cell cancer stem cell stromal cell interstitial cell Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers MTOR Gene Information Basic Information Ensembl ID: ENSG00000198793 Description: mechanistic target of rapamycin kinase [Source:HGNC Symbol;Acc:HGNC:3942] Location: 1:11106535-11262556 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Adaptive Immune System Macroautophagy MTOR signalling NR4A1 Gene Information Basic Information Ensembl ID: ENSG00000123358 Description: nuclear receptor subfamily 4 group A member 1 [Source:HGNC Symbol;Acc:HGNC:7980] Location: 12:52022832-52059507 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: RNA Polymerase II Transcription Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer PDGFA Gene Information Basic Information Ensembl ID: ENSG00000197461 Description: platelet derived growth factor subunit A [Source:HGNC Symbol;Acc:HGNC:8799] Location: 7:497258-520296 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte smooth muscle cell Specialized T cell secretory cell Other: Cellular responses to stress Non-integrin membrane-ECM interactions MAPK family signaling cascades PDGFB Gene Information Basic Information Ensembl ID: ENSG00000100311 Description: platelet derived growth factor subunit B [Source:HGNC Symbol;Acc:HGNC:8800] Location: 22:39223359-39244982 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Non-integrin membrane-ECM interactions MAPK family signaling cascades Platelet activation, signaling and aggregation PDGFRA Gene Information Basic Information Ensembl ID: ENSG00000134853 Description: platelet derived growth factor receptor alpha [Source:HGNC Symbol;Acc:HGNC:8803] Location: 4:54229280-54298245 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stellate cell stem cell embryonic cell stromal cell smooth muscle cell oligodendrocyte precursor cell epithelial cell oligodendrocyte progenitor cell mesodermal cell valve interstitial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PDGFRB Gene Information Basic Information Ensembl ID: ENSG00000113721 Description: platelet derived growth factor receptor beta [Source:HGNC Symbol;Acc:HGNC:8804] Location: 5:150113839-150155872 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell stellate cell endothelial cell pericyte fibroblast stromal cell mural cell adipocyte neuron mesenchymal cell vascular cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System PIK3CD Gene Information Basic Information Ensembl ID: ENSG00000171608 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit delta [Source:HGNC Symbol;Acc:HGNC:8977] Location: 1:9629889-9729114 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell T cell hematopoietic cell Other: Cytokine Signaling in Immune system Adaptive Immune System Metabolism of lipids PIK3CG Gene Information Basic Information Ensembl ID: ENSG00000105851 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit gamma [Source:HGNC Symbol;Acc:HGNC:8978] Location: 7:106865278-106908980 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: tuft cell Other: Adaptive Immune System Signaling by GPCR Metabolism of lipids PTPN11 Gene Information Basic Information Ensembl ID: ENSG00000179295 Description: protein tyrosine phosphatase non-receptor type 11 [Source:HGNC Symbol;Acc:HGNC:9644] Location: 12:112418351-112509918 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System TRAT1 Gene Information Basic Information Ensembl ID: ENSG00000163519 Description: T cell receptor associated transmembrane adaptor 1 [Source:HGNC Symbol;Acc:HGNC:30698] Location: 3:108822770-108855005 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell Specialized T cell CD4+ T cell Other: Adaptive Immune System Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer
Parasitic Infection Pathways Pathway Hierarchies & Genes ADORA2B mediated anti-inflammatory cytokines production (1 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Leishmania parasite growth and survival Anti-inflammatory response favouring Leishmania parasite infection ADORA2B mediated anti-inflammatory cytokines production 1 genes CD163 mediating an anti-inflammatory response (3 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Leishmania parasite growth and survival Anti-inflammatory response favouring Leishmania parasite infection CD163 mediating an anti-inflammatory response 3 genes FCGR3A-mediated IL10 synthesis (4 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Leishmania parasite growth and survival Anti-inflammatory response favouring Leishmania parasite infection FCGR3A-mediated IL10 synthesis 4 genes FCGR3A-mediated phagocytosis (4 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Parasite infection Leishmania phagocytosis FCGR3A-mediated phagocytosis 4 genes Purinergic signaling in leishmaniasis infection (9 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Cell recruitment (pro-inflammatory response) Purinergic signaling in leishmaniasis infection 9 genes WNT5:FZD7-mediated leishmania damping (3 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Killing mechanisms WNT5:FZD7-mediated leishmania damping 3 genes	ABL1 Gene Information Basic Information Ensembl ID: ENSG00000097007 Description: ABL proto-oncogene 1%2C non-receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:76] Location: 9:130713043-130887675 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Epigenetic regulation of gene expression Myogenesis BTK Gene Information Basic Information Ensembl ID: ENSG00000010671 Description: Bruton tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:1133] Location: X:101349338-101390796 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Naive B cell mast cell granulocyte Other: Adaptive Immune System Innate Immune System Signaling by GPCR CD163 Gene Information Basic Information Ensembl ID: ENSG00000177575 Description: CD163 molecule [Source:HGNC Symbol;Acc:HGNC:1631] Location: 12:7470811-7503893 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage phagocyte monocyte myeloid cell antigen presenting cell hematopoietic cell lymphocyte Other: Parasitic Infection Pathways Binding and Uptake of Ligands by Scavenger Receptors ENTPD1 Gene Information Basic Information Ensembl ID: ENSG00000138185 Description: ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363] Location: 10:95711779-95877266 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell endothelial cell monocyte Specialized T cell leukocyte granulocyte T cell Regulatory T cell macrophage CD8+ T cell Other: Metabolism of nucleotides Parasitic Infection Pathways FCGR2A Gene Information Basic Information Ensembl ID: ENSG00000143226 Description: Fc gamma receptor IIa [Source:HGNC Symbol;Acc:HGNC:3616] Location: 1:161505430-161524013 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell neuron macrophage dendritic cell phagocyte microglia myeloid cell antigen presenting cell monocyte Other: Parasitic Infection Pathways Innate Immune System FYN Gene Information Basic Information Ensembl ID: ENSG00000010810 Description: FYN proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:4037] Location: 6:111660332-111873452 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Cellular responses to mechanical stimuli FZD7 Gene Information Basic Information Ensembl ID: ENSG00000155760 Description: frizzled class receptor 7 [Source:HGNC Symbol;Acc:HGNC:4045] Location: 2:202033855-202038441 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Parasitic Infection Pathways Signaling by WNT Signaling by GPCR IL10 Gene Information Basic Information Ensembl ID: ENSG00000136634 Description: interleukin 10 [Source:HGNC Symbol;Acc:HGNC:5962] Location: 1:206767602-206774541 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Specialized T cell CD4+ T cell monocyte Naive B cell Regulatory T cell Other: Cytokine Signaling in Immune system Signaling by ALK in cancer Parasitic Infection Pathways IL18 Gene Information Basic Information Ensembl ID: ENSG00000150782 Description: interleukin 18 [Source:HGNC Symbol;Acc:HGNC:5986] Location: 11:112143251-112164096 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell dendritic cell macrophage hematopoietic stem cell phagocyte stem cell leukocyte epithelial cell mast cell myeloid cell antigen presenting cell pneumocyte progenitor cell neutrophil monocyte Other: Cytokine Signaling in Immune system Regulated Necrosis Parasitic Infection Pathways IL1A Gene Information Basic Information Ensembl ID: ENSG00000115008 Description: interleukin 1 alpha [Source:HGNC Symbol;Acc:HGNC:5991] Location: 2:112773925-112784493 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: Cytokine Signaling in Immune system Cellular responses to stress Regulated Necrosis IL1B Gene Information Basic Information Ensembl ID: ENSG00000125538 Description: interleukin 1 beta [Source:HGNC Symbol;Acc:HGNC:5992] Location: 2:112829751-112836816 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell neuron macrophage dendritic cell phagocyte monocyte progenitor cell myeloid cell antigen presenting cell Other: Regulated Necrosis Cytokine Signaling in Immune system Innate Immune System IL6 Gene Information Basic Information Ensembl ID: ENSG00000136244 Description: interleukin 6 [Source:HGNC Symbol;Acc:HGNC:6018] Location: 7:22725884-22732002 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte endothelial cell stromal cell smooth muscle cell CD4+ T cell vascular cell immune cell Other: Cytokine Signaling in Immune system Cellular responses to stress Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) LYN Gene Information Basic Information Ensembl ID: ENSG00000254087 Description: LYN proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6735] Location: 8:55879835-56014169 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System MAPK1 Gene Information Basic Information Ensembl ID: ENSG00000100030 Description: mitogen-activated protein kinase 1 [Source:HGNC Symbol;Acc:HGNC:6871] Location: 22:21759657-21867680 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MAPK14 Gene Information Basic Information Ensembl ID: ENSG00000112062 Description: mitogen-activated protein kinase 14 [Source:HGNC Symbol;Acc:HGNC:6876] Location: 6:36027752-36122511 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Platelet homeostasis Cytokine Signaling in Immune system Mitochondrial biogenesis MAPK3 Gene Information Basic Information Ensembl ID: ENSG00000102882 Description: mitogen-activated protein kinase 3 [Source:HGNC Symbol;Acc:HGNC:6877] Location: 16:30114105-30123506 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MAPK8 Gene Information Basic Information Ensembl ID: ENSG00000107643 Description: mitogen-activated protein kinase 8 [Source:HGNC Symbol;Acc:HGNC:6881] Location: 10:48306639-48439360 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Innate Immune System NFKB1 Gene Information Basic Information Ensembl ID: ENSG00000109320 Description: nuclear factor kappa B subunit 1 [Source:HGNC Symbol;Acc:HGNC:7794] Location: 4:102501330-102617302 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System NFKB2 Gene Information Basic Information Ensembl ID: ENSG00000077150 Description: nuclear factor kappa B subunit 2 [Source:HGNC Symbol;Acc:HGNC:7795] Location: 10:102394110-102402524 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: CD4+ T cell Other: Cytokine Signaling in Immune system Innate Immune System Chromatin modifying enzymes NLRP3 Gene Information Basic Information Ensembl ID: ENSG00000162711 Description: NLR family pyrin domain containing 3 [Source:HGNC Symbol;Acc:HGNC:16400] Location: 1:247332331-247449108 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte monocyte Other: Parasitic Infection Pathways Viral Infection Pathways Innate Immune System NT5E Gene Information Basic Information Ensembl ID: ENSG00000135318 Description: 5'-nucleotidase ecto [Source:HGNC Symbol;Acc:HGNC:8021] Location: 6:85449584-85495791 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell epithelial cell stem cell pericyte mesenchymal stem cell stromal cell progenitor cell fibroblast Naive B cell activated B cell Other: Metabolism of nucleotides Metabolism of vitamins and cofactors Parasitic Infection Pathways RELA Gene Information Basic Information Ensembl ID: ENSG00000173039 Description: RELA proto-oncogene%2C NF-kB subunit [Source:HGNC Symbol;Acc:HGNC:9955] Location: 11:65653599-65663090 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System SYK Gene Information Basic Information Ensembl ID: ENSG00000165025 Description: spleen associated tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:11491] Location: 9:90801787-90898549 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell phagocyte microglia Follicular B cell myeloid cell antigen presenting cell hematopoietic cell dendritic cell macrophage Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System WNT5A Gene Information Basic Information Ensembl ID: ENSG00000114251 Description: Wnt family member 5A [Source:HGNC Symbol;Acc:HGNC:12784] Location: 3:55465715-55490539 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast mesenchymal cell Other: Signaling by WNT Membrane Trafficking Signaling by GPCR
Signaling by ALK in cancer Pathway Hierarchies & Genes Nuclear events stimulated by ALK signaling in cancer (15 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by ALK in cancer Signaling by ALK fusions and activated point mutants Nuclear events stimulated by ALK signaling in cancer 15 genes Signaling by ALK fusions and activated point mutants (8 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by ALK in cancer Signaling by ALK fusions and activated point mutants 8 genes	CCNB1 Gene Information Basic Information Ensembl ID: ENSG00000134057 Description: cyclin B1 [Source:HGNC Symbol;Acc:HGNC:1579] Location: 5:69167135-69178245 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cell Cycle, Mitotic Cell Cycle Checkpoints RNA Polymerase II Transcription CDKN1A Gene Information Basic Information Ensembl ID: ENSG00000124762 Description: cyclin dependent kinase inhibitor 1A [Source:HGNC Symbol;Acc:HGNC:1784] Location: 6:36676460-36687397 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte dendritic cell smooth muscle cell fibroblast muscle cell monocyte Other: Cytokine Signaling in Immune system Cellular responses to stress Post-translational protein modification DNMT1 Gene Information Basic Information Ensembl ID: ENSG00000130816 Description: DNA methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:2976] Location: 19:10133342-10231286 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell lymphoid progenitor cell Follicular B cell Other: Epigenetic regulation of gene expression Post-translational protein modification Signaling by Receptor Tyrosine Kinases GZMB Gene Information Basic Information Ensembl ID: ENSG00000100453 Description: granzyme B [Source:HGNC Symbol;Acc:HGNC:4709] Location: 14:24630954-24634267 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: CD8+ T cell T cell innate lymphoid cell natural killer cell developing T cell Other: Apoptosis Signaling by NOTCH Regulated Necrosis ICOS Gene Information Basic Information Ensembl ID: ENSG00000163600 Description: inducible T cell costimulator [Source:HGNC Symbol;Acc:HGNC:5351] Location: 2:203936763-203961577 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell Regulatory T cell CD4+ T cell memory T cell T helper cell T cell Other: Adaptive Immune System Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer IL10 Gene Information Basic Information Ensembl ID: ENSG00000136634 Description: interleukin 10 [Source:HGNC Symbol;Acc:HGNC:5962] Location: 1:206767602-206774541 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Specialized T cell CD4+ T cell monocyte Naive B cell Regulatory T cell Other: Cytokine Signaling in Immune system Signaling by ALK in cancer Parasitic Infection Pathways IL10RA Gene Information Basic Information Ensembl ID: ENSG00000110324 Description: interleukin 10 receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:5964] Location: 11:117986370-118003037 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell leukocyte hematopoietic cell macrophage innate lymphoid cell Other: Cytokine Signaling in Immune system Signaling by ALK in cancer IRF4 Gene Information Basic Information Ensembl ID: ENSG00000137265 Description: interferon regulatory factor 4 [Source:HGNC Symbol;Acc:HGNC:6119] Location: 6:391739-411443 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell dendritic cell plasma cell antigen presenting cell lymphocyte plasmablast Other: Cytokine Signaling in Immune system MITF-M-regulated melanocyte development Signaling by ALK in cancer IRS1 Gene Information Basic Information Ensembl ID: ENSG00000169047 Description: insulin receptor substrate 1 [Source:HGNC Symbol;Acc:HGNC:6125] Location: 2:226731312-226799820 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Signaling by Leptin MAPK family signaling cascades MAPK1 Gene Information Basic Information Ensembl ID: ENSG00000100030 Description: mitogen-activated protein kinase 1 [Source:HGNC Symbol;Acc:HGNC:6871] Location: 22:21759657-21867680 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MAPK3 Gene Information Basic Information Ensembl ID: ENSG00000102882 Description: mitogen-activated protein kinase 3 [Source:HGNC Symbol;Acc:HGNC:6877] Location: 16:30114105-30123506 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MAPK8 Gene Information Basic Information Ensembl ID: ENSG00000107643 Description: mitogen-activated protein kinase 8 [Source:HGNC Symbol;Acc:HGNC:6881] Location: 10:48306639-48439360 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Innate Immune System NOTCH1 Gene Information Basic Information Ensembl ID: ENSG00000148400 Description: notch receptor 1 [Source:HGNC Symbol;Acc:HGNC:7881] Location: 9:136494433-136546048 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte T cell stem cell cancer cell Other: Signaling by NOTCH Regulation of beta-cell development Cellular responses to stress PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System PRF1 Gene Information Basic Information Ensembl ID: ENSG00000180644 Description: perforin 1 [Source:HGNC Symbol;Acc:HGNC:9360] Location: 10:70597348-70602759 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell T cell memory T cell Other: Signaling by ALK in cancer RB1 Gene Information Basic Information Ensembl ID: ENSG00000139687 Description: RB transcriptional corepressor 1 [Source:HGNC Symbol;Acc:HGNC:9884] Location: 13:48303744-48599436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell endothelial cell microglia neuron Other: Epigenetic regulation of gene expression Cellular responses to stress Cell junction organization STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription STAT3 Gene Information Basic Information Ensembl ID: ENSG00000168610 Description: signal transducer and activator of transcription 3 [Source:HGNC Symbol;Acc:HGNC:11364] Location: 17:42313324-42388568 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: cancer cell Other: Apoptosis Cytokine Signaling in Immune system Cellular responses to stress STAT5A Gene Information Basic Information Ensembl ID: ENSG00000126561 Description: signal transducer and activator of transcription 5A [Source:HGNC Symbol;Acc:HGNC:11366] Location: 17:42287547-42311943 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell CD4+ T cell adipocyte Other: Cytokine Signaling in Immune system Signaling by Leptin Signaling by Erythropoietin TP53 Gene Information Basic Information Ensembl ID: ENSG00000141510 Description: tumor protein p53 [Source:HGNC Symbol;Acc:HGNC:11998] Location: 17:7661779-7687546 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Signaling by NOTCH TWIST1 Gene Information Basic Information Ensembl ID: ENSG00000122691 Description: twist family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:12428] Location: 7:19020991-19117636 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte embryonic cell fibroblast stromal cell epithelial cell mesenchymal cell Other: Cytokine Signaling in Immune system Cell junction organization RNA Polymerase II Transcription TYK2 Gene Information Basic Information Ensembl ID: ENSG00000105397 Description: tyrosine kinase 2 [Source:HGNC Symbol;Acc:HGNC:12440] Location: 19:10350528-10380608 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Signaling by ALK in cancer ZAP70 Gene Information Basic Information Ensembl ID: ENSG00000115085 Description: zeta chain of T cell receptor associated protein kinase 70 [Source:HGNC Symbol;Acc:HGNC:12858] Location: 2:97713576-97744327 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell developing T cell T cell CD8+ T cell Specialized T cell Other: Adaptive Immune System Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by ALK in cancer
Signaling by EGFR in Cancer Pathway Hierarchies & Genes Inhibition of Signaling by Overexpressed EGFR (6 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by EGFR in Cancer Signaling by Ligand-Responsive EGFR Variants in Cancer Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by EGFRvIII in Cancer Constitutive Signaling by EGFRvIII 4 genes Signaling by Overexpressed Wild-Type EGFR in Cancer Inhibition of Signaling by Overexpressed EGFR 2 genes	EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR HRAS Gene Information Basic Information Ensembl ID: ENSG00000174775 Description: HRas proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:5173] Location: 11:532242-537321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Adaptive Immune System KRAS Gene Information Basic Information Ensembl ID: ENSG00000133703 Description: KRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:6407] Location: 12:25205246-25250936 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Non-Receptor Tyrosine Kinases Transmission across Chemical Synapses Cytokine Signaling in Immune system NRAS Gene Information Basic Information Ensembl ID: ENSG00000213281 Description: NRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:7989] Location: 1:114704469-114716771 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell cancer cell Other: Signaling by Erythropoietin Signaling by Non-Receptor Tyrosine Kinases Signaling by Nuclear Receptors PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System
Signaling by ERBB2 in Cancer Pathway Hierarchies & Genes Signaling by ERBB2 TMD/JMD mutants (3 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by ERBB2 in Cancer Constitutive Signaling by Overexpressed ERBB2 Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants 3 genes Signaling by ERBB2 TMD/JMD mutants (4 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by ERBB2 in Cancer Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants 2 genes Signaling by ERBB2 TMD/JMD mutants 2 genes	EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR ERBB3 Gene Information Basic Information Ensembl ID: ENSG00000065361 Description: erb-b2 receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3431] Location: 12:56076799-56103505 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron glial cell schwann cell neural crest cell progenitor cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Non-Receptor Tyrosine Kinases HRAS Gene Information Basic Information Ensembl ID: ENSG00000174775 Description: HRas proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:5173] Location: 11:532242-537321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Adaptive Immune System KRAS Gene Information Basic Information Ensembl ID: ENSG00000133703 Description: KRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:6407] Location: 12:25205246-25250936 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Non-Receptor Tyrosine Kinases Transmission across Chemical Synapses Cytokine Signaling in Immune system NRAS Gene Information Basic Information Ensembl ID: ENSG00000213281 Description: NRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:7989] Location: 1:114704469-114716771 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell cancer cell Other: Signaling by Erythropoietin Signaling by Non-Receptor Tyrosine Kinases Signaling by Nuclear Receptors PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System
Signaling by FGFR in disease Pathway Hierarchies & Genes Signaling by activated point mutants of FGFR3 (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR1 in disease FGFR1 mutant receptor activation Signaling by activated point mutants of FGFR1 Signaling by FGFR2 in disease FGFR2 mutant receptor activation Activated point mutants of FGFR2 Signaling by FGFR3 in disease FGFR3 mutant receptor activation Signaling by activated point mutants of FGFR3 1 genes Signaling by FGFR3 in disease (5 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR1 in disease FGFR1 mutant receptor activation Signaling by cytosolic FGFR1 fusion mutants 4 genes Signaling by FGFR2 in disease Signaling by FGFR4 in disease Signaling by FGFR3 in disease 1 genes Signaling by activated point mutants of FGFR3 (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR2 in disease FGFR2 mutant receptor activation Activated point mutants of FGFR2 Signaling by FGFR3 in disease FGFR3 mutant receptor activation Signaling by activated point mutants of FGFR3 1 genes Signaling by FGFR3 in disease (3 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR2 in disease Signaling by FGFR4 in disease Signaling by FGFR1 in disease Signaling by FGFR3 in disease 3 genes Signaling by FGFR1 amplification mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR1 in disease FGFR1 mutant receptor activation Signaling by FGFR1 amplification mutants 1 genes Signaling by activated point mutants of FGFR3 (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR3 in disease FGFR3 mutant receptor activation Signaling by activated point mutants of FGFR3 1 genes	FGF18 Gene Information Basic Information Ensembl ID: ENSG00000156427 Description: fibroblast growth factor 18 [Source:HGNC Symbol;Acc:HGNC:3674] Location: 5:171419647-171457626 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FGF2 Gene Information Basic Information Ensembl ID: ENSG00000138685 Description: fibroblast growth factor 2 [Source:HGNC Symbol;Acc:HGNC:3676] Location: 4:122826682-122898236 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast glial cell adipocyte Other: Non-integrin membrane-ECM interactions Cytokine Signaling in Immune system Transcriptional regulation of pluripotent stem cells FGFR1 Gene Information Basic Information Ensembl ID: ENSG00000077782 Description: fibroblast growth factor receptor 1 [Source:HGNC Symbol;Acc:HGNC:3688] Location: 8:38400215-38468834 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell fibroblast epithelial cell stem cell stromal cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FGFR3 Gene Information Basic Information Ensembl ID: ENSG00000068078 Description: fibroblast growth factor receptor 3 [Source:HGNC Symbol;Acc:HGNC:3690] Location: 4:1793293-1808872 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell astrocyte epithelial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases HRAS Gene Information Basic Information Ensembl ID: ENSG00000174775 Description: HRas proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:5173] Location: 11:532242-537321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Adaptive Immune System KRAS Gene Information Basic Information Ensembl ID: ENSG00000133703 Description: KRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:6407] Location: 12:25205246-25250936 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Non-Receptor Tyrosine Kinases Transmission across Chemical Synapses Cytokine Signaling in Immune system NRAS Gene Information Basic Information Ensembl ID: ENSG00000213281 Description: NRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:7989] Location: 1:114704469-114716771 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell cancer cell Other: Signaling by Erythropoietin Signaling by Non-Receptor Tyrosine Kinases Signaling by Nuclear Receptors PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription STAT3 Gene Information Basic Information Ensembl ID: ENSG00000168610 Description: signal transducer and activator of transcription 3 [Source:HGNC Symbol;Acc:HGNC:11364] Location: 17:42313324-42388568 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: cancer cell Other: Apoptosis Cytokine Signaling in Immune system Cellular responses to stress STAT5A Gene Information Basic Information Ensembl ID: ENSG00000126561 Description: signal transducer and activator of transcription 5A [Source:HGNC Symbol;Acc:HGNC:11366] Location: 17:42287547-42311943 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell CD4+ T cell adipocyte Other: Cytokine Signaling in Immune system Signaling by Leptin Signaling by Erythropoietin STAT5B Gene Information Basic Information Ensembl ID: ENSG00000173757 Description: signal transducer and activator of transcription 5B [Source:HGNC Symbol;Acc:HGNC:11367] Location: 17:42199176-42288633 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell CD4+ T cell Other: Cytokine Signaling in Immune system Signaling by Leptin Signaling by Erythropoietin
Signaling by KIT in disease Pathway Hierarchies & Genes Signaling by extracellular domain mutants of KIT (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by KIT in disease Drug resistance of KIT mutants Dasatinib-resistant KIT mutants KIT mutants bind TKIs Signaling by kinase domain mutants of KIT Signaling by juxtamembrane domain KIT mutants Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by extracellular domain mutants of KIT 1 genes Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants (12 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by KIT in disease Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants 12 genes	FYN Gene Information Basic Information Ensembl ID: ENSG00000010810 Description: FYN proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:4037] Location: 6:111660332-111873452 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Cellular responses to mechanical stimuli HRAS Gene Information Basic Information Ensembl ID: ENSG00000174775 Description: HRas proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:5173] Location: 11:532242-537321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Adaptive Immune System JAK2 Gene Information Basic Information Ensembl ID: ENSG00000096968 Description: Janus kinase 2 [Source:HGNC Symbol;Acc:HGNC:6192] Location: 9:4984390-5129948 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast basophil dendritic cell Other: Chromatin modifying enzymes Cytokine Signaling in Immune system Signaling by Leptin KIT Gene Information Basic Information Ensembl ID: ENSG00000157404 Description: KIT proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342] Location: 4:54657267-54740783 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell intercalated cell tuft cell brush cell mast cell progenitor cell stem cell melanocyte Specialized T cell hematopoietic progenitor cell hematopoietic cell cancer stem cell stromal cell interstitial cell Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers KRAS Gene Information Basic Information Ensembl ID: ENSG00000133703 Description: KRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:6407] Location: 12:25205246-25250936 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Non-Receptor Tyrosine Kinases Transmission across Chemical Synapses Cytokine Signaling in Immune system LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System LYN Gene Information Basic Information Ensembl ID: ENSG00000254087 Description: LYN proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6735] Location: 8:55879835-56014169 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System NRAS Gene Information Basic Information Ensembl ID: ENSG00000213281 Description: NRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:7989] Location: 1:114704469-114716771 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell cancer cell Other: Signaling by Erythropoietin Signaling by Non-Receptor Tyrosine Kinases Signaling by Nuclear Receptors PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription STAT3 Gene Information Basic Information Ensembl ID: ENSG00000168610 Description: signal transducer and activator of transcription 3 [Source:HGNC Symbol;Acc:HGNC:11364] Location: 17:42313324-42388568 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: cancer cell Other: Apoptosis Cytokine Signaling in Immune system Cellular responses to stress STAT5A Gene Information Basic Information Ensembl ID: ENSG00000126561 Description: signal transducer and activator of transcription 5A [Source:HGNC Symbol;Acc:HGNC:11366] Location: 17:42287547-42311943 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell CD4+ T cell adipocyte Other: Cytokine Signaling in Immune system Signaling by Leptin Signaling by Erythropoietin STAT5B Gene Information Basic Information Ensembl ID: ENSG00000173757 Description: signal transducer and activator of transcription 5B [Source:HGNC Symbol;Acc:HGNC:11367] Location: 17:42199176-42288633 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell CD4+ T cell Other: Cytokine Signaling in Immune system Signaling by Leptin Signaling by Erythropoietin
Signaling by LTK in cancer Pathway Hierarchies & Genes Signaling by LTK in cancer (3 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by LTK in cancer 3 genes	MAPK1 Gene Information Basic Information Ensembl ID: ENSG00000100030 Description: mitogen-activated protein kinase 1 [Source:HGNC Symbol;Acc:HGNC:6871] Location: 22:21759657-21867680 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL MAPK3 Gene Information Basic Information Ensembl ID: ENSG00000102882 Description: mitogen-activated protein kinase 3 [Source:HGNC Symbol;Acc:HGNC:6877] Location: 16:30114105-30123506 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Transmission across Chemical Synapses Signaling by NODAL PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System
Signaling by NOTCH1 in Cancer Pathway Hierarchies & Genes Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants (5 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by NOTCH1 in Cancer Signaling by NOTCH1 PEST Domain Mutants in Cancer Constitutive Signaling by NOTCH1 PEST Domain Mutants FBXW7 Mutants and NOTCH1 in Cancer Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling 3 genes Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Signaling by NOTCH1 HD Domain Mutants in Cancer Constitutive Signaling by NOTCH1 HD Domain Mutants 1 genes Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants 1 genes	CREBBP Gene Information Basic Information Ensembl ID: ENSG00000005339 Description: CREB binding protein [Source:HGNC Symbol;Acc:HGNC:2348] Location: 16:3725054-3880713 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Expression of BMAL (ARNTL), CLOCK, and NPAS2 Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes BMAL1:CLOCK,NPAS2 activates circadian expression HDAC3 Gene Information Basic Information Ensembl ID: ENSG00000171720 Description: histone deacetylase 3 [Source:HGNC Symbol;Acc:HGNC:4854] Location: 5:141620876-141636849 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Death Receptor Signaling Signaling by NOTCH Mitochondrial biogenesis JAG1 Gene Information Basic Information Ensembl ID: ENSG00000101384 Description: jagged canonical Notch ligand 1 [Source:HGNC Symbol;Acc:HGNC:6188] Location: 20:10637684-10673999 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte smooth muscle cell mural cell Other: Signaling by NOTCH RNA Polymerase II Transcription Signaling by Rho GTPases, Miro GTPases and RHOBTB3 MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT NOTCH1 Gene Information Basic Information Ensembl ID: ENSG00000148400 Description: notch receptor 1 [Source:HGNC Symbol;Acc:HGNC:7881] Location: 9:136494433-136546048 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte T cell stem cell cancer cell Other: Signaling by NOTCH Regulation of beta-cell development Cellular responses to stress
Signaling by PDGFR in disease Pathway Hierarchies & Genes PDGFR mutants bind TKIs (7 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by PDGFR in disease Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants 6 genes Drug resistance of PDGFR mutants Imatinib-resistant PDGFR mutants PDGFR mutants bind TKIs 1 genes Signaling by membrane-tethered fusions of PDGFRA or PDGFRB (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by PDGFR in disease Signaling by membrane-tethered fusions of PDGFRA or PDGFRB 1 genes	HRAS Gene Information Basic Information Ensembl ID: ENSG00000174775 Description: HRas proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:5173] Location: 11:532242-537321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Adaptive Immune System KDR Gene Information Basic Information Ensembl ID: ENSG00000128052 Description: kinase insert domain receptor [Source:HGNC Symbol;Acc:HGNC:6307] Location: 4:55078481-55125595 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell glial cell stromal cell mesothelial cell cancer stem cell Other: Integrin cell surface interactions Signaling by Receptor Tyrosine Kinases Cellular responses to mechanical stimuli KRAS Gene Information Basic Information Ensembl ID: ENSG00000133703 Description: KRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:6407] Location: 12:25205246-25250936 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Non-Receptor Tyrosine Kinases Transmission across Chemical Synapses Cytokine Signaling in Immune system NRAS Gene Information Basic Information Ensembl ID: ENSG00000213281 Description: NRAS proto-oncogene%2C GTPase [Source:HGNC Symbol;Acc:HGNC:7989] Location: 1:114704469-114716771 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell cancer cell Other: Signaling by Erythropoietin Signaling by Non-Receptor Tyrosine Kinases Signaling by Nuclear Receptors PDGFRA Gene Information Basic Information Ensembl ID: ENSG00000134853 Description: platelet derived growth factor receptor alpha [Source:HGNC Symbol;Acc:HGNC:8803] Location: 4:54229280-54298245 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stellate cell stem cell embryonic cell stromal cell smooth muscle cell oligodendrocyte precursor cell epithelial cell oligodendrocyte progenitor cell mesodermal cell valve interstitial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PIK3CA Gene Information Basic Information Ensembl ID: ENSG00000121879 Description: phosphatidylinositol-4%2C5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol;Acc:HGNC:8975] Location: 3:179148114-179240093 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription STAT3 Gene Information Basic Information Ensembl ID: ENSG00000168610 Description: signal transducer and activator of transcription 3 [Source:HGNC Symbol;Acc:HGNC:11364] Location: 17:42313324-42388568 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: cancer cell Other: Apoptosis Cytokine Signaling in Immune system Cellular responses to stress
Signaling by TGF-beta Receptor Complex in Cancer Pathway Hierarchies & Genes TGFBR1 KD Mutants in Cancer (3 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by TGF-beta Receptor Complex in Cancer Loss of Function of SMAD2/3 in Cancer SMAD2/3 Phosphorylation Motif Mutants in Cancer Loss of Function of TGFBR2 in Cancer TGFBR2 MSI Frameshift Mutants in Cancer Loss of Function of TGFBR1 in Cancer TGFBR1 KD Mutants in Cancer 3 genes TGFBR1 KD Mutants in Cancer (2 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by TGF-beta Receptor Complex in Cancer Loss of Function of SMAD4 in Cancer SMAD4 MH2 Domain Mutants in Cancer Loss of Function of SMAD2/3 in Cancer SMAD2/3 Phosphorylation Motif Mutants in Cancer Loss of Function of TGFBR1 in Cancer TGFBR1 KD Mutants in Cancer 2 genes	SMAD2 Gene Information Basic Information Ensembl ID: ENSG00000175387 Description: SMAD family member 2 [Source:HGNC Symbol;Acc:HGNC:6768] Location: 18:47808957-47931146 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by NODAL Transcriptional regulation of pluripotent stem cells Post-translational protein modification SMAD3 Gene Information Basic Information Ensembl ID: ENSG00000166949 Description: SMAD family member 3 [Source:HGNC Symbol;Acc:HGNC:6769] Location: 15:67063763-67195173 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell stem cell mesenchymal cell Other: Signaling by NODAL Cytokine Signaling in Immune system Signaling by NOTCH TGFB1 Gene Information Basic Information Ensembl ID: ENSG00000105329 Description: transforming growth factor beta 1 [Source:HGNC Symbol;Acc:HGNC:11766] Location: 19:41301587-41353922 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell developing T cell T cell CD8+ T cell platelet Specialized T cell megakaryocyte Other: Platelet activation, signaling and aggregation RNA Polymerase II Transcription Cytokine Signaling in Immune system TGFBR1 Gene Information Basic Information Ensembl ID: ENSG00000106799 Description: transforming growth factor beta receptor 1 [Source:HGNC Symbol;Acc:HGNC:11772] Location: 9:99104038-99154192 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: T cell phagocyte microglia Other: Post-translational protein modification Signaling by TGFB family members Signaling by TGF-beta Receptor Complex in Cancer TGFBR2 Gene Information Basic Information Ensembl ID: ENSG00000163513 Description: transforming growth factor beta receptor 2 [Source:HGNC Symbol;Acc:HGNC:11773] Location: 3:30606478-30694249 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell glial cell fibroblast Other: Post-translational protein modification Signaling by TGFB family members Signaling by TGF-beta Receptor Complex in Cancer
Signaling by WNT in cancer Pathway Hierarchies & Genes Signaling by GSK3beta mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by WNT in cancer Signaling by AXIN mutants AXIN missense mutants destabilize the destruction complex Signaling by CTNNB1 phospho-site mutants CTNNB1 S33 mutants aren't phosphorylated Signaling by APC mutants APC truncation mutants are not K63 polyubiquitinated Signaling by AMER1 mutants Truncations of AMER1 destabilize the destruction complex Signaling by GSK3beta mutants 1 genes Signaling by GSK3beta mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by WNT in cancer Signaling by CTNNB1 phospho-site mutants CTNNB1 S33 mutants aren't phosphorylated Signaling by GSK3beta mutants 1 genes Signaling by LRP5 mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by WNT in cancer Signaling by LRP5 mutants 1 genes	APC Gene Information Basic Information Ensembl ID: ENSG00000134982 Description: APC regulator of WNT signaling pathway [Source:HGNC Symbol;Acc:HGNC:583] Location: 5:112707518-112846239 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell astrocyte bipolar cell Other: Apoptosis Signaling by WNT Post-translational protein modification CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT DKK1 Gene Information Basic Information Ensembl ID: ENSG00000107984 Description: dickkopf WNT signaling pathway inhibitor 1 [Source:HGNC Symbol;Acc:HGNC:2891] Location: 10:52314281-52318042 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell Other: Signaling by WNT Transcriptional regulation of pluripotent stem cells Signaling by WNT in cancer
Viral Infection Pathways Pathway Hierarchies & Genes Evasion by RSV of host interferon responses (15 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-2 Infection SARS-CoV-2-host interactions SARS-CoV-2 activates/modulates innate and adaptive immune responses 9 genes Respiratory Syncytial Virus Infection Pathway RSV-host interactions 1 genes Evasion by RSV of host interferon responses 5 genes Evasion by RSV of host interferon responses (9 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-1 Infection SARS-CoV-1-host interactions SARS-CoV-1 activates/modulates innate immune responses 5 genes Respiratory Syncytial Virus Infection Pathway RSV-host interactions 1 genes Evasion by RSV of host interferon responses 3 genes SARS-CoV-1 activates/modulates innate immune responses (5 genes) Disease Infectious disease Viral Infection Pathways HCMV Infection HCMV Early Events 2 genes SARS-CoV Infections SARS-CoV-1 Infection 2 genes SARS-CoV-1-host interactions SARS-CoV-1 activates/modulates innate immune responses 1 genes Nef Mediated CD4 Down-regulation (2 genes) Disease Infectious disease Viral Infection Pathways HIV Infection Host Interactions of HIV factors The role of Nef in HIV-1 replication and disease pathogenesis Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters Nef Mediated CD4 Down-regulation 2 genes Nef mediated downregulation of CD28 cell surface expression (1 genes) Disease Infectious disease Viral Infection Pathways HIV Infection Host Interactions of HIV factors The role of Nef in HIV-1 replication and disease pathogenesis Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters Nef mediated downregulation of CD28 cell surface expression 1 genes Replication of the SARS-CoV-2 genome (1 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-2 Infection Early SARS-CoV-2 Infection Events SARS-CoV-2 Genome Replication and Transcription Replication of the SARS-CoV-2 genome 1 genes Attachment and Entry (1 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-2 Infection Early SARS-CoV-2 Infection Events Attachment and Entry 1 genes Binding and entry of HIV virion (1 genes) Disease Infectious disease Viral Infection Pathways HIV Infection HIV Life Cycle Early Phase of HIV Life Cycle Binding and entry of HIV virion 1 genes Nef and signal transduction (1 genes) Disease Infectious disease Viral Infection Pathways HIV Infection Host Interactions of HIV factors The role of Nef in HIV-1 replication and disease pathogenesis Nef and signal transduction 1 genes SARS-CoV-1 targets host intracellular signalling and regulatory pathways (1 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-1 Infection SARS-CoV-1-host interactions SARS-CoV-1 targets host intracellular signalling and regulatory pathways 1 genes SARS-CoV-1-mediated effects on programmed cell death (1 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-1 Infection SARS-CoV-1-host interactions SARS-CoV-1-mediated effects on programmed cell death 1 genes SARS-CoV-2 targets host intracellular signalling and regulatory pathways (3 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-2 Infection SARS-CoV-2-host interactions SARS-CoV-2 targets host intracellular signalling and regulatory pathways 3 genes Influenza Virus Induced Apoptosis (1 genes) Disease Infectious disease Viral Infection Pathways Influenza Infection Influenza Virus Induced Apoptosis 1 genes Potential therapeutics for SARS (14 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections Potential therapeutics for SARS 14 genes RSV-host interactions (2 genes) Disease Infectious disease Viral Infection Pathways Respiratory Syncytial Virus Infection Pathway RSV-host interactions 2 genes Respiratory syncytial virus (RSV) attachment and entry (4 genes) Disease Infectious disease Viral Infection Pathways Respiratory Syncytial Virus Infection Pathway Respiratory syncytial virus (RSV) attachment and entry 4 genes	AKT1 Gene Information Basic Information Ensembl ID: ENSG00000142208 Description: AKT serine/threonine kinase 1 [Source:HGNC Symbol;Acc:HGNC:391] Location: 14:104769349-104795759 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Integrin signaling Apoptosis Cytokine Signaling in Immune system AKT2 Gene Information Basic Information Ensembl ID: ENSG00000105221 Description: AKT serine/threonine kinase 2 [Source:HGNC Symbol;Acc:HGNC:392] Location: 19:40230317-40285536 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: T cell Other: Apoptosis Cytokine Signaling in Immune system Adaptive Immune System AKT3 Gene Information Basic Information Ensembl ID: ENSG00000117020 Description: AKT serine/threonine kinase 3 [Source:HGNC Symbol;Acc:HGNC:393] Location: 1:243488233-243851079 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron epithelial cell T cell fibroblast glial cell CD8+ T cell schwann cell Specialized T cell excitatory neuron smooth muscle cell Other: Apoptosis Cytokine Signaling in Immune system Adaptive Immune System BCL2L1 Gene Information Basic Information Ensembl ID: ENSG00000171552 Description: BCL2 like 1 [Source:HGNC Symbol;Acc:HGNC:992] Location: 20:31664452-31723989 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Cytokine Signaling in Immune system Innate Immune System BRD4 Gene Information Basic Information Ensembl ID: ENSG00000141867 Description: bromodomain containing 4 [Source:HGNC Symbol;Acc:HGNC:13575] Location: 19:15235519-15332545 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell memory B cell Other: Viral Infection Pathways BTK Gene Information Basic Information Ensembl ID: ENSG00000010671 Description: Bruton tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:1133] Location: X:101349338-101390796 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Naive B cell mast cell granulocyte Other: Adaptive Immune System Innate Immune System Signaling by GPCR CCR5 Gene Information Basic Information Ensembl ID: ENSG00000160791 Description: C-C motif chemokine receptor 5 [Source:HGNC Symbol;Acc:HGNC:1606] Location: 3:46370946-46376206 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: CD8+ T cell developing T cell Other: Cytokine Signaling in Immune system Signaling by GPCR Viral Infection Pathways CD14 Gene Information Basic Information Ensembl ID: ENSG00000170458 Description: CD14 molecule [Source:HGNC Symbol;Acc:HGNC:1628] Location: 5:140631728-140633700 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage dendritic cell phagocyte myeloid cell antigen presenting cell monocyte Other: Apoptosis Adaptive Immune System Innate Immune System CD209 Gene Information Basic Information Ensembl ID: ENSG00000090659 Description: CD209 molecule [Source:HGNC Symbol;Acc:HGNC:1641] Location: 19:7739993-7747564 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: phagocyte myeloid cell dendritic cell macrophage Other: Adaptive Immune System Innate Immune System Viral Infection Pathways CD28 Gene Information Basic Information Ensembl ID: ENSG00000178562 Description: CD28 molecule [Source:HGNC Symbol;Acc:HGNC:1653] Location: 2:203706517-203739756 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell Regulatory T cell CD8+ T cell CD4+ T cell T cell Specialized T cell Other: Adaptive Immune System Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer CD4 Gene Information Basic Information Ensembl ID: ENSG00000010610 Description: CD4 molecule [Source:HGNC Symbol;Acc:HGNC:1678] Location: 12:6786858-6820799 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte CD4+ T cell antigen presenting cell hematopoietic cell monocyte macrophage developing T cell Regulatory T cell T cell memory T cell Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System CD79B Gene Information Basic Information Ensembl ID: ENSG00000007312 Description: CD79b molecule [Source:HGNC Symbol;Acc:HGNC:1699] Location: 17:63928738-63932336 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell lymphoid progenitor cell Follicular B cell Other: Adaptive Immune System Viral Infection Pathways CHUK Gene Information Basic Information Ensembl ID: ENSG00000213341 Description: component of inhibitor of nuclear factor kappa B kinase complex [Source:HGNC Symbol;Acc:HGNC:1974] Location: 10:100188300-100229596 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Intracellular signaling by second messengers Cytokine Signaling in Immune system Adaptive Immune System CREBBP Gene Information Basic Information Ensembl ID: ENSG00000005339 Description: CREB binding protein [Source:HGNC Symbol;Acc:HGNC:2348] Location: 16:3725054-3880713 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Expression of BMAL (ARNTL), CLOCK, and NPAS2 Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes BMAL1:CLOCK,NPAS2 activates circadian expression CX3CR1 Gene Information Basic Information Ensembl ID: ENSG00000168329 Description: C-X3-C motif chemokine receptor 1 [Source:HGNC Symbol;Acc:HGNC:2558] Location: 3:39263495-39281735 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell memory T cell macrophage phagocyte monocyte T cell antigen presenting cell Specialized T cell Other: Signaling by GPCR Viral Infection Pathways EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR EZH2 Gene Information Basic Information Ensembl ID: ENSG00000106462 Description: enhancer of zeste 2 polycomb repressive complex 2 subunit [Source:HGNC Symbol;Acc:HGNC:3527] Location: 7:148807257-148884321 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell Other: Epigenetic regulation of gene expression Cellular responses to stress Chromatin modifying enzymes FYN Gene Information Basic Information Ensembl ID: ENSG00000010810 Description: FYN proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:4037] Location: 6:111660332-111873452 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Cellular responses to mechanical stimuli HDAC3 Gene Information Basic Information Ensembl ID: ENSG00000171720 Description: histone deacetylase 3 [Source:HGNC Symbol;Acc:HGNC:4854] Location: 5:141620876-141636849 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Death Receptor Signaling Signaling by NOTCH Mitochondrial biogenesis IFIH1 Gene Information Basic Information Ensembl ID: ENSG00000115267 Description: interferon induced with helicase C domain 1 [Source:HGNC Symbol;Acc:HGNC:18873] Location: 2:162267074-162318684 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: antigen presenting cell Other: Cytokine Signaling in Immune system Innate Immune System Post-translational protein modification IFNAR1 Gene Information Basic Information Ensembl ID: ENSG00000142166 Description: interferon alpha and beta receptor subunit 1 [Source:HGNC Symbol;Acc:HGNC:5432] Location: 21:33324387-33359864 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Viral Infection Pathways IFNAR2 Gene Information Basic Information Ensembl ID: ENSG00000159110 Description: interferon alpha and beta receptor subunit 2 [Source:HGNC Symbol;Acc:HGNC:5433] Location: 21:33205282-33265675 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Regulatory T cell endothelial cell Other: Cytokine Signaling in Immune system Viral Infection Pathways IFNB1 Gene Information Basic Information Ensembl ID: ENSG00000171855 Description: interferon beta 1 [Source:HGNC Symbol;Acc:HGNC:5434] Location: 9:21077104-21077942 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Innate Immune System Cellular responses to stress IFNGR1 Gene Information Basic Information Ensembl ID: ENSG00000027697 Description: interferon gamma receptor 1 [Source:HGNC Symbol;Acc:HGNC:5439] Location: 6:137197483-137219449 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron dendritic cell macrophage phagocyte monocyte Other: Cytokine Signaling in Immune system Viral Infection Pathways IFNGR2 Gene Information Basic Information Ensembl ID: ENSG00000159128 Description: interferon gamma receptor 2 [Source:HGNC Symbol;Acc:HGNC:5440] Location: 21:33403413-33479348 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: phagocyte granulocyte monocyte schwann cell adipocyte Other: Cytokine Signaling in Immune system Viral Infection Pathways IGF1R Gene Information Basic Information Ensembl ID: ENSG00000140443 Description: insulin like growth factor 1 receptor [Source:HGNC Symbol;Acc:HGNC:5465] Location: 15:98648539-98964530 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell fibroblast trophoblast cell adrenal cortical cell granulocyte smooth muscle cell Other: Signaling by Nuclear Receptors Signaling by Receptor Tyrosine Kinases Viral Infection Pathways IKBKB Gene Information Basic Information Ensembl ID: ENSG00000104365 Description: inhibitor of nuclear factor kappa B kinase subunit beta [Source:HGNC Symbol;Acc:HGNC:5960] Location: 8:42271302-42332460 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell secretory cell T cell Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System IL17A Gene Information Basic Information Ensembl ID: ENSG00000112115 Description: interleukin 17A [Source:HGNC Symbol;Acc:HGNC:5981] Location: 6:52186375-52190638 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Viral Infection Pathways IL17RA Gene Information Basic Information Ensembl ID: ENSG00000177663 Description: interleukin 17 receptor A [Source:HGNC Symbol;Acc:HGNC:5985] Location: 22:17084954-17115693 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: granulocyte basophil Other: Cytokine Signaling in Immune system Viral Infection Pathways IL1R1 Gene Information Basic Information Ensembl ID: ENSG00000115594 Description: interleukin 1 receptor type 1 [Source:HGNC Symbol;Acc:HGNC:5993] Location: 2:102064544-102179874 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell blood cell fibroblast trophoblast cell stromal cell granulocyte epithelial cell neutrophil innate lymphoid cell Other: Cytokine Signaling in Immune system Viral Infection Pathways IL6R Gene Information Basic Information Ensembl ID: ENSG00000160712 Description: interleukin 6 receptor [Source:HGNC Symbol;Acc:HGNC:6019] Location: 1:154405193-154469450 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: CD4+ T cell neutrophil Other: Cytokine Signaling in Immune system MAPK family signaling cascades Transcriptional regulation of granulopoiesis IRAK1 Gene Information Basic Information Ensembl ID: ENSG00000184216 Description: interleukin 1 receptor associated kinase 1 [Source:HGNC Symbol;Acc:HGNC:6112] Location: X:154010506-154019902 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: monocyte Other: Cytokine Signaling in Immune system Innate Immune System RNA Polymerase II Transcription IRAK2 Gene Information Basic Information Ensembl ID: ENSG00000134070 Description: interleukin 1 receptor associated kinase 2 [Source:HGNC Symbol;Acc:HGNC:6113] Location: 3:10164919-10243745 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell granulocyte Other: Cytokine Signaling in Immune system Innate Immune System Viral Infection Pathways IRF3 Gene Information Basic Information Ensembl ID: ENSG00000126456 Description: interferon regulatory factor 3 [Source:HGNC Symbol;Acc:HGNC:6118] Location: 19:49659569-49665875 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Innate Immune System Viral Infection Pathways ITGA4 Gene Information Basic Information Ensembl ID: ENSG00000115232 Description: integrin subunit alpha 4 [Source:HGNC Symbol;Acc:HGNC:6140] Location: 2:181457202-181538940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell Naive B cell Specialized T cell mast cell lymphoid progenitor cell CD8+ T cell erythroid lineage cell T cell memory T cell progenitor cell erythroblast projection neuron Other: Cell surface interactions at the vascular wall Integrin cell surface interactions Adaptive Immune System ITGB1 Gene Information Basic Information Ensembl ID: ENSG00000150093 Description: integrin subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:6153] Location: 10:32887273-33005792 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell pericyte trophoblast cell epithelial cell stromal cell stem cell endothelial cell smooth muscle cell fibroblast mesenchymal stem cell Other: Laminin interactions Cell surface interactions at the vascular wall Cytokine Signaling in Immune system JAK2 Gene Information Basic Information Ensembl ID: ENSG00000096968 Description: Janus kinase 2 [Source:HGNC Symbol;Acc:HGNC:6192] Location: 9:4984390-5129948 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast basophil dendritic cell Other: Chromatin modifying enzymes Cytokine Signaling in Immune system Signaling by Leptin JAK3 Gene Information Basic Information Ensembl ID: ENSG00000105639 Description: Janus kinase 3 [Source:HGNC Symbol;Acc:HGNC:6193] Location: 19:17824780-17848071 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Specialized T cell CD4+ T cell T cell CD8+ T cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Signaling by Receptor Tyrosine Kinases LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System NFKB1 Gene Information Basic Information Ensembl ID: ENSG00000109320 Description: nuclear factor kappa B subunit 1 [Source:HGNC Symbol;Acc:HGNC:7794] Location: 4:102501330-102617302 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System NLRP3 Gene Information Basic Information Ensembl ID: ENSG00000162711 Description: NLR family pyrin domain containing 3 [Source:HGNC Symbol;Acc:HGNC:16400] Location: 1:247332331-247449108 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte monocyte Other: Parasitic Infection Pathways Viral Infection Pathways Innate Immune System NRP1 Gene Information Basic Information Ensembl ID: ENSG00000099250 Description: neuropilin 1 [Source:HGNC Symbol;Acc:HGNC:8004] Location: 10:33177492-33336262 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Receptor Tyrosine Kinases Nervous system development Viral Infection Pathways PDCD1 Gene Information Basic Information Ensembl ID: ENSG00000188389 Description: programmed cell death 1 [Source:HGNC Symbol;Acc:HGNC:8760] Location: 2:241849884-241858894 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell CD4+ T cell CD8+ T cell T cell memory T cell lymphocyte progenitor cell T helper cell Other: Adaptive Immune System Viral Infection Pathways PTPN11 Gene Information Basic Information Ensembl ID: ENSG00000179295 Description: protein tyrosine phosphatase non-receptor type 11 [Source:HGNC Symbol;Acc:HGNC:9644] Location: 12:112418351-112509918 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System RB1 Gene Information Basic Information Ensembl ID: ENSG00000139687 Description: RB transcriptional corepressor 1 [Source:HGNC Symbol;Acc:HGNC:9884] Location: 13:48303744-48599436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell endothelial cell microglia neuron Other: Epigenetic regulation of gene expression Cellular responses to stress Cell junction organization RELA Gene Information Basic Information Ensembl ID: ENSG00000173039 Description: RELA proto-oncogene%2C NF-kB subunit [Source:HGNC Symbol;Acc:HGNC:9955] Location: 11:65653599-65663090 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System RIGI Gene Information Basic Information Ensembl ID: ENSG00000107201 Description: RNA sensor RIG-I [Source:HGNC Symbol;Acc:HGNC:19102] Location: 9:32455302-32526348 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cytokine Signaling in Immune system Innate Immune System Post-translational protein modification SMAD3 Gene Information Basic Information Ensembl ID: ENSG00000166949 Description: SMAD family member 3 [Source:HGNC Symbol;Acc:HGNC:6769] Location: 15:67063763-67195173 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell stem cell mesenchymal cell Other: Signaling by NODAL Cytokine Signaling in Immune system Signaling by NOTCH STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription STING1 Gene Information Basic Information Ensembl ID: ENSG00000184584 Description: stimulator of interferon response cGAMP interactor 1 [Source:HGNC Symbol;Acc:HGNC:27962] Location: 5:139475533-139482935 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Viral Infection Pathways Innate Immune System SYK Gene Information Basic Information Ensembl ID: ENSG00000165025 Description: spleen associated tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:11491] Location: 9:90801787-90898549 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell phagocyte microglia Follicular B cell myeloid cell antigen presenting cell hematopoietic cell dendritic cell macrophage Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System TBK1 Gene Information Basic Information Ensembl ID: ENSG00000183735 Description: TANK binding kinase 1 [Source:HGNC Symbol;Acc:HGNC:11584] Location: 12:64452090-64502114 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Other: Cytokine Signaling in Immune system Macroautophagy Innate Immune System TGFB1 Gene Information Basic Information Ensembl ID: ENSG00000105329 Description: transforming growth factor beta 1 [Source:HGNC Symbol;Acc:HGNC:11766] Location: 19:41301587-41353922 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell developing T cell T cell CD8+ T cell platelet Specialized T cell megakaryocyte Other: Platelet activation, signaling and aggregation RNA Polymerase II Transcription Cytokine Signaling in Immune system TLR1 Gene Information Basic Information Ensembl ID: ENSG00000174125 Description: toll like receptor 1 [Source:HGNC Symbol;Acc:HGNC:11847] Location: 4:38787555-38856817 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Adaptive Immune System Innate Immune System Diseases associated with the TLR signaling cascade TLR2 Gene Information Basic Information Ensembl ID: ENSG00000137462 Description: toll like receptor 2 [Source:HGNC Symbol;Acc:HGNC:11848] Location: 4:153684050-153706260 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage phagocyte microglia granulocyte neutrophil Other: Adaptive Immune System Innate Immune System Diseases associated with the TLR signaling cascade TLR3 Gene Information Basic Information Ensembl ID: ENSG00000164342 Description: toll like receptor 3 [Source:HGNC Symbol;Acc:HGNC:11849] Location: 4:186068911-186088073 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Diseases associated with the TLR signaling cascade Viral Infection Pathways TLR4 Gene Information Basic Information Ensembl ID: ENSG00000136869 Description: toll like receptor 4 [Source:HGNC Symbol;Acc:HGNC:11850] Location: 9:117704175-117724735 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell myeloid cell Other: Apoptosis Adaptive Immune System Innate Immune System TLR7 Gene Information Basic Information Ensembl ID: ENSG00000196664 Description: toll like receptor 7 [Source:HGNC Symbol;Acc:HGNC:15631] Location: X:12867072-12890361 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: Diseases associated with the TLR signaling cascade Viral Infection Pathways Innate Immune System TLR8 Gene Information Basic Information Ensembl ID: ENSG00000101916 Description: toll like receptor 8 [Source:HGNC Symbol;Acc:HGNC:15632] Location: X:12906620-12923169 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Viral Infection Pathways Innate Immune System TLR9 Gene Information Basic Information Ensembl ID: ENSG00000239732 Description: toll like receptor 9 [Source:HGNC Symbol;Acc:HGNC:15633] Location: 3:52221080-52225645 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Signaling by Receptor Tyrosine Kinases Viral Infection Pathways TYK2 Gene Information Basic Information Ensembl ID: ENSG00000105397 Description: tyrosine kinase 2 [Source:HGNC Symbol;Acc:HGNC:12440] Location: 19:10350528-10380608 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Signaling by ALK in cancer VEGFA Gene Information Basic Information Ensembl ID: ENSG00000112715 Description: vascular endothelial growth factor A [Source:HGNC Symbol;Acc:HGNC:12680] Location: 6:43770184-43786487 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage epithelial cell stem cell monocyte fibroblast microglia pancreatic cell granulocyte secretory cell astrocyte dendritic cell endothelial cell Other: Cytokine Signaling in Immune system Cellular responses to stress RNA Polymerase II Transcription

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