| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7291 |
Name | TWIST1 |
Synonymous | ACS3|BPES2|BPES3|CRS1|SCS|TWIST|bHLHa38;twist homolog 1 (Drosophila);TWIST1;twist homolog 1 (Drosophila) |
Definition | B-HLH DNA binding protein|H-twist|TWIST homolog of drosophila|class A basic helix-loop-helix protein 38|twist-related protein 1 |
Position | 7p21.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TWIST1 | ||
PCGP somatic mutation [Top] | ||
There is no record for TWIST1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.590C>A; p.S197Y; |
liver | carcinoma; hepatocellular_carcinoma |
c.358C>T; p.R120C; |
oesophagus | carcinoma; adenocarcinoma |
c.323C>T; p.T108M; |
oesophagus | carcinoma; adenocarcinoma |
c.541G>T; p.E181*; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.260_277del18; p.A87_S93>G; |
lung | carcinoma; adenocarcinoma |
c.381G>A; p.A127A; |
lung | carcinoma; adenocarcinoma |
c.570G>C; p.W190C; |
lung | carcinoma; adenocarcinoma |
c.242G>C; p.C81S; |
lung | carcinoma; adenocarcinoma |
c.494G>C; p.S165T; |
lung | carcinoma; adenocarcinoma |
c.407C>A; p.P136H; |
lung | carcinoma; squamous_cell_carcinoma |
c.380C>T; p.A127V; |
lung | carcinoma; adenocarcinoma |
c.352C>T; p.R118C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.598G>A; p.A200T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.387C>T; p.A129A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.384C>T; p.F128F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.528C>T; p.S176S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.438T>G; p.I146M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.541G>A; p.E181K; |
large_intestine; caecum | carcinoma; adenocarcinoma |