Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2272
Symbol

FHIT

Synonymous

AP3Aase|FRA3B

Full name

fragile histidine triad

Gene description

AP3A hydrolase|bis(5'-adenosyl)-triphosphatase|diadenosine 5',5'''-P1,P3-triphosphate hydrolase|dinucleosidetriphosphatase|tumor suppressor protein

Cytoband

3p14.2

Gene type

protein-coding

Synonymous

MIM:601153; HGNC:HGNC:3701; Ensembl:ENSG00000189283; HPRD:03096; Vega:OTTHUMG00000158591

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.313G>C; p.G105R; 3:59922381-59922381

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.291C>T; p.V97V; 3:59922403-59922403

 skinmalignant_melanomaSubstitution - coding silent

c.289G>A; p.V97I; 3:59922405-59922405

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.289G>A; p.V97I; 3:59922405-59922405

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.113T>C; p.V38A; 3:60014143-60014143

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.411A>T; p.A137A; 3:59752259-59752259

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.117C>T; p.C39C; 3:60014139-60014139

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.294T>C; p.H98H; 3:59922400-59922400

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.191G>C; p.R64T; 3:60014065-60014065

 breastcarcinomaSubstitution - Missense

c.417C>T; p.A139A; 3:59752253-59752253

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.84G>A; p.R28R; 3:60536879-60536879

 skinmalignant_melanomaSubstitution - coding silent

c.64T>C; p.S22P; 3:60536899-60536899

 breastcarcinomaSubstitution - Missense

c.259G>A; p.E87K; 3:60011391-60011391

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.414A>C; p.E138D; 3:59752256-59752256

 skinmalignant_melanomaSubstitution - Missense

c.345G>T; p.E115D; 3:59922349-59922349

 pancreascarcinomaSubstitution - Missense

c.101G>T; p.G34V; 3:60536862-60536862

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.6G>C; p.S2S; 3:60536957-60536957

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.152G>A; p.R51H; 3:60014104-60014104

 breastcarcinomaSubstitution - Missense

c.182C>T; p.T61M; 3:60014074-60014074

 stomachadenocarcinomaSubstitution - Missense

c.182C>T; p.T61M; 3:60014074-60014074

 bone; pelvischondrosarcomaSubstitution - Missense

c.137G>A; p.R46H; 3:60014119-60014119

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.49C>A; p.L17I; 3:60536914-60536914

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.195C>T; p.V65V; 3:60014061-60014061

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.70G>A; p.A24T; 3:60536893-60536893

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.100G>T; p.G34*; 3:60536863-60536863

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.103C>A; p.H35N; 3:60536860-60536860

 skin; neckmalignant_melanomaSubstitution - Missense

c.263C>T; p.A88V; 3:60011387-60011387

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.263C>T; p.A88V; 3:60011387-60011387

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.124C>T; p.R42W; 3:60014132-60014132

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.283G>C; p.V95L; 3:59922411-59922411

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.349-9_349-8insT; p.?; 3:59752329-59752330

 skinmalignant_melanomaUnknown

c.145G>T; p.D49Y; 3:60014111-60014111

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.155C>T; p.P52L; 3:60014101-60014101

 skinmalignant_melanomaSubstitution - Missense

c.416C>T; p.A139V; 3:59752254-59752254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.370G>T; p.D124Y; 3:59752300-59752300

 skinmalignant_melanomaSubstitution - Missense

c.51C>G; p.L17L; 3:60536912-60536912

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.262G>A; p.A88T; 3:60011388-60011388

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.374T>A; p.F125Y; 3:59752296-59752296

 skinmalignant_melanomaSubstitution - Missense

c.174G>T; p.L58F; 3:60014082-60014082

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.394G>C; p.E132Q; 3:59752276-59752276

 NSNSSubstitution - Missense