| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3280 |
Name | HES1 |
Synonymous | HES-1|HHL|HRY|bHLHb39;hairy and enhancer of split 1, (Drosophila);HES1;hairy and enhancer of split 1, (Drosophila) |
Definition | class B basic helix-loop-helix protein 39|hairy homolog|hairy-like protein|transcription factor HES-1 |
Position | 3q28-q29 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HES1 | ||
PCGP somatic mutation [Top] | ||
There is no record for HES1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.82C>T; p.P28S; |
NS | malignant_melanoma |
c.82C>T; p.P28S; |
NS | malignant_melanoma |
c.32C>T; p.S11L; |
oesophagus | carcinoma; adenocarcinoma |
c.251C>T; p.T84I; |
lung | carcinoma; small_cell_carcinoma |
c.632A>T; p.E211V; |
lung | carcinoma; non_small_cell_carcinoma |
c.52C>A; p.P18T; |
liver | carcinoma; hepatocellular_carcinoma |
c.549G>T; p.P183P; |
liver | carcinoma |
c.323G>A; p.G108E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.843delA; p.?; |
lung | carcinoma; adenocarcinoma |
c.215A>G; p.H72R; |
lung | carcinoma; adenocarcinoma |
c.534_535CG>TT; p.A179>S; 3:195338407-195338408 |
lung | carcinoma; non_small_cell_carcinoma |
c.49A>C; p.T17P; |
lung | carcinoma; small_cell_carcinoma |
c.812C>T; p.A271V; 3:195338685-195338685 |
ovary | carcinoma; serous_carcinoma |
c.273G>A; p.L91L; |
ovary | carcinoma; serous_carcinoma |
c.329A>G; p.Y110C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.759C>T; p.G253G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.159_160delTC; p.L54fs*15; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.33G>A; p.S11S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.186G>A; p.L62L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.222G>A; p.K74K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13A>C; p.I5L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.137G>A; p.R46Q; |
urinary_tract; bladder | carcinoma |
c.450C>T; p.I150I; |
urinary_tract; bladder | carcinoma |