| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2034 |
Name | EPAS1 |
Synonymous | ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73;endothelial PAS domain protein 1;EPAS1;endothelial PAS domain protein 1 |
Definition | EPAS-1|HIF-1-alpha-like factor|HIF-1alpha-like factor|HIF-2-alpha|HIF2-alpha|PAS domain-containing protein 2|basic-helix-loop-helix-PAS protein MOP2|class E basic helix-loop-helix protein 73|endothelial PAS domain-containing protein 1|hypoxia-inducible fa |
Position | 2p21-p16 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EPAS1 | ||
PCGP somatic mutation [Top] | ||
There is no record for EPAS1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2432A>G; p.Y811C; |
lung | carcinoma; small_cell_carcinoma |
c.1516G>A; p.A506T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.772G>A; p.D258N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2092G>A; p.A698T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1898G>A; p.G633D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.836A>T; p.E279V; |
liver | carcinoma; hepatocellular_carcinoma |
c.836A>T; p.E279V; |
liver | carcinoma; hepatocellular_carcinoma |
c.1916G>T; p.W639L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.1736C>A; p.P579Q; |
oesophagus | carcinoma; adenocarcinoma |
c.1625T>G; p.L542R; |
liver | carcinoma |
c.430C>T; p.R144C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.669C>G; p.I223M; |
lung | carcinoma; adenocarcinoma |
c.1003C>T; p.Q335*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.827C>T; p.S276L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1565A>G; p.N522S; |
lung | carcinoma; adenocarcinoma |
c.1755G>C; p.L585L; |
lung | carcinoma; adenocarcinoma |
c.1775T>A; p.L592Q; |
lung | carcinoma; adenocarcinoma |
c.941G>A; p.G314E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.1249+1G>C; p.?; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.941G>A; p.G314E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.941G>A; p.G314E; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1958C>T; p.A653V; |
skin; extremity | malignant_melanoma |
c.2372C>T; p.P791L; 2:46463152-46463152 |
skin | malignant_melanoma |
c.2356C>A; p.P786T; |
prostate | carcinoma |
c.2128C>T; p.R710*; |
NS | NS |
c.742C>A; p.H248N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2080G>A; p.V694M; |
ovary | carcinoma; serous_carcinoma |
c.1749C>T; p.F583F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2474_2475GG>CC; p.R825P; |
ovary | carcinoma; serous_carcinoma |
c.215C>T; p.S72L; |
lung | carcinoma; adenocarcinoma |
c.2129G>A; p.R710Q; |
lung | carcinoma; adenocarcinoma |
c.95A>T; p.E32V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1637G>T; p.C546F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.829G>C; p.A277P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1448A>G; p.N483S; 2:46459304-46459304 |
ovary | carcinoma; serous_carcinoma |
c.2591G>T; p.R864I; |
lung | carcinoma; adenocarcinoma |
c.1659G>C; p.A553A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.779G>T; p.R260I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.588G>A; p.T196T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1733C>T; p.A578V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1900A>G; p.R634G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.971C>T; p.T324M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1828G>A; p.D610N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.172C>T; p.R58*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1483G>A; p.D495N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.948C>T; p.Y316Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1130G>A; p.S377N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.625A>G; p.N209D; |
breast | carcinoma |
c.186C>T; p.S62S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1876A>G; p.T626A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1532C>T; p.A511V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.138T>C; p.S46S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2565G>A; p.T855T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2022C>A; p.P674P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.68C>T; p.A23V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2437C>A; p.L813M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.435G>T; p.E145D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1263C>T; p.F421F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.414C>T; p.C138C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1515C>T; p.F505F; |
breast | carcinoma |
c.2061T>G; p.F687L; |
breast | carcinoma |
c.164C>T; p.S55F; |
breast | carcinoma |
c.1917G>A; p.W639*; |
breast | carcinoma |
c.824G>A; p.R275H; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1522G>A; p.D508N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.497G>T; p.R166L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1472C>A; p.S491Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.294C>A; p.F98L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.415G>A; p.D139N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2169C>T; p.S723S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1309C>T; p.P437S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1482C>T; p.N494N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1917G>A; p.W639*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1808C>A; p.P603H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2547C>T; p.P849P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1503T>C; p.I501I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2565G>A; p.T855T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2069G>A; p.R690Q; |
urinary_tract; bladder | carcinoma |
c.493G>C; p.E165Q; |
breast | carcinoma |
c.276G>A; p.L92L; |
urinary_tract; bladder | carcinoma |
c.441G>C; p.L147L; |
urinary_tract; bladder | carcinoma |
c.1660G>A; p.E554K; |
skin | malignant_melanoma |
c.1504G>A; p.E502K; |
skin; ear | carcinoma; squamous_cell_carcinoma |