| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 429 |
Name | ASCL1 |
Synonymous | ASH1|HASH1|MASH1|bHLHa46;achaete-scute complex homolog 1 (Drosophila);ASCL1;achaete-scute complex homolog 1 (Drosophila) |
Definition | ASH-1|achaete scute protein|achaete-scute complex-like 1|achaete-scute homolog 1|class A basic helix-loop-helix protein 46 |
Position | 12q23.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ASCL1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ASCL1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.529C>T; p.H177Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.307C>T; p.L103F; |
pancreas | carcinoma; acinar_carcinoma |
c.616G>A; p.G206S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.272C>T; p.S91L; |
oesophagus | carcinoma; adenocarcinoma |
c.445G>A; p.A149T; |
oesophagus | carcinoma; adenocarcinoma |
c.561C>G; p.G187G; |
lung | carcinoma; adenocarcinoma |
c.490delG; p.V164fs*17; |
NS | NS |
c.488_490CGG>CG; p.A163fs; |
NS | NS |
c.488_490CGG>CG; p.A163fs; |
NS | NS |
c.330C>A; p.Y110*; |
lung | carcinoma; squamous_cell_carcinoma |
c.389G>A; p.R130H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.389G>A; p.R130H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.351G>A; p.P117P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.339G>A; p.P113P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.441C>T; p.N147N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.447G>A; p.A149A; |
large_intestine; caecum | carcinoma; adenocarcinoma |