| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2272 |
Name | FHIT |
Synonymous | AP3Aase|FRA3B;fragile histidine triad gene;FHIT;fragile histidine triad gene |
Definition | AP3A hydrolase|bis(5'-adenosyl)-triphosphatase|diadenosine 5',5'''-P1,P3-triphosphate hydrolase|dinucleosidetriphosphatase|fragile histidine triad protein|tumor suppressor protein |
Position | 3p14.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for FHIT | ||
PCGP somatic mutation [Top] | ||
There is no record for FHIT | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.349-9_349-8insT; p.?; |
NS | malignant_melanoma |
c.101G>T; p.G34V; |
lung | carcinoma; small_cell_carcinoma |
c.100G>T; p.G34*; |
lung | carcinoma; small_cell_carcinoma |
c.174G>T; p.L58F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.294T>C; p.H98H; |
stomach | carcinoma; adenocarcinoma |
c.152G>A; p.R51H; |
breast | carcinoma |
c.394G>C; p.E132Q; |
NS | NS |
c.182C>T; p.T61M; |
bone | other; giant_cell_tumour |
c.51C>G; p.L17L; |
lung | carcinoma; squamous_cell_carcinoma |
c.411A>T; p.A137A; |
lung | carcinoma; adenocarcinoma |
c.283G>C; p.V95L; |
lung | carcinoma; adenocarcinoma |
c.70G>A; p.A24T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.124C>T; p.R42W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.289G>A; p.V97I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.195C>T; p.V65V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6G>C; p.S2S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.416C>T; p.A139V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.145G>T; p.D49Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.417C>T; p.A139A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.64T>C; p.S22P; |
breast | carcinoma |
c.113T>C; p.V38A; |
prostate | carcinoma; adenocarcinoma |
c.370G>T; p.D124Y; |
skin | malignant_melanoma |
c.103C>A; p.H35N; |
skin; neck | malignant_melanoma |
c.182C>T; p.T61M; |
stomach | adenocarcinoma |