Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2272

Name

FHIT

Synonymous

fragile histidine triad;FHIT;fragile histidine triad

Definition

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

Position

3p14.2

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.06.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

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

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