| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3091 |
Name | HIF1A |
Synonymous | HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78;hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor);HIF1A;hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) |
Definition | ARNT interacting protein|ARNT-interacting protein|HIF-1-alpha|PAS domain-containing protein 8|basic-helix-loop-helix-PAS protein MOP1|class E basic helix-loop-helix protein 78|hypoxia-inducible factor 1 alpha isoform I.3|hypoxia-inducible factor 1, alpha |
Position | 14q23.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HIF1A | ||
PCGP somatic mutation [Top] | ||
There is no record for HIF1A | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.984G>C; p.K328N; |
liver | carcinoma; hepatocellular_carcinoma |
c.40A>C; p.S14R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2043A>C; p.E681D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2311A>C; p.I771L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2384_2393del10; p.T796fs*>28; |
pancreas | carcinoma |
c.2180C>A; p.S727*; 14:61281262-61281262 |
kidney | carcinoma; renal_cell_carcinoma |
c.2322A>G; p.I774M; |
oesophagus | carcinoma; adenocarcinoma |
c.1327T>A; p.L443I; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.2089C>G; p.Q697E; 14:61277655-61277655 |
lung | carcinoma; adenocarcinoma |
c.1918G>C; p.A640P; |
lung | carcinoma; non_small_cell_carcinoma |
c.1825G>T; p.E609*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.496A>C; p.S166R; |
liver | carcinoma |
c.2384_2393del10; p.T796fs*>28; |
pancreas | carcinoma; ductal_carcinoma |
c.750G>C; p.M250I; |
lung | carcinoma; adenocarcinoma |
c.1996A>T; p.T666S; |
lung | carcinoma; adenocarcinoma |
c.2089C>G; p.Q697E; 14:61277655-61277655 |
lung | carcinoma; non_small_cell_carcinoma |
c.2423G>T; p.G808V; |
pancreas | carcinoma; ductal_carcinoma |
c.2120delA; p.N707fs*5; 14:61281202-61281202 |
kidney | carcinoma |
c.373-5delTACAGTTTGAACTAACTGGA; p.?; 14:61258205-61258224 |
kidney | carcinoma |
c.2260C>T; p.R754C; |
lung | carcinoma; small_cell_carcinoma |
c.2068G>A; p.V690M; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2188C>T; p.Q730*; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.700G>A; p.E234K; |
prostate | adenoma |
c.1281A>C; p.E427D; |
endometrium | carcinoma; serous_carcinoma |
c.541A>C; p.T181P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2135C>A; p.A712D; |
autonomic_ganglia | neuroblastoma |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.637A>C; p.K213Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.712G>A; p.D238N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.805G>T; p.E269*; |
lung | carcinoma; adenocarcinoma |
c.197A>G; p.Y66C; |
lung | carcinoma; squamous_cell_carcinoma |
c.49C>G; p.R17G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2179T>C; p.S727P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1938C>T; p.H646H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.123T>G; p.A41A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2091A>G; p.Q697Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.359T>C; p.M120T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1031G>A; p.G344D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2179T>C; p.S727P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.97G>T; p.E33*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1321G>A; p.E441K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.120T>C; p.L40L; |
breast | carcinoma |
c.2067C>T; p.N689N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1571A>G; p.D524G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1732G>A; p.D578N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2382G>A; p.Q794Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.984G>T; p.K328N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1897G>A; p.E633K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.875A>G; p.H292R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1468A>G; p.T490A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.525A>G; p.L175L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.89G>A; p.R30Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2043A>T; p.E681D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2180C>A; p.S727*; 14:61281262-61281262 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.734G>A; p.R245Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2163A>C; p.K721N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2227G>A; p.D743N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1924C>T; p.P642S; |
breast | carcinoma |
c.361G>T; p.G121*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.53G>A; p.R18Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.996A>G; p.P332P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1641G>T; p.K547N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1548C>A; p.P516P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1299T>G; p.D433E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1321G>T; p.E441*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2068G>A; p.V690M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.805G>T; p.E269*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2094-1G>C; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.160C>A; p.L54I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.106_107insT; p.Y38fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1021G>A; p.V341I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.67C>T; p.R23*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1857C>T; p.A619A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1005T>C; p.I335I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.55A>C; p.K19Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2113G>T; p.E705*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1135G>A; p.E379K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.507C>G; p.L169L; |
breast | carcinoma |
c.357C>A; p.Y119*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1914G>A; p.L638L; |
urinary_tract; bladder | carcinoma |
c.2261G>A; p.R754H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1537-1G>A; p.?; |
skin | malignant_melanoma |
c.513G>T; p.M171I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.446C>G; p.T149R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.881-9delc; p.?; |
stomach | adenocarcinoma |