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

Basic Information

Gene ID

54739

Name

XAF1

Synonymous

XIAP associated factor 1;XAF1;XIAP associated factor 1

Definition

BIRC4 binding protein|BIRC4-binding protein|XIAP-associated factor 1

Position

17p13.1

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 0.07.

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.291G>A; p.K97K; 17:6760471-6760471

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.203A>G; p.K68R; 17:6759696-6759696

 skinmalignant_melanomaSubstitution - Missense

c.559C>G; p.P187A; 17:6770694-6770694

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.767G>A; p.G256E; 17:6770902-6770902

 oesophaguscarcinomaSubstitution - Missense

c.830C>T; p.P277L; 17:6770965-6770965

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.176G>A; p.C59Y; 17:6759669-6759669

 ovaryother; neoplasmSubstitution - Missense

c.631C>T; p.R211C; 17:6770766-6770766

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.893G>C; p.R298T; 17:6773156-6773156

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.404A>G; p.Q135R; 17:6760584-6760584

 skinmalignant_melanomaSubstitution - Missense

c.373G>A; p.A125T; 17:6760553-6760553

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.373G>A; p.A125T; 17:6760553-6760553

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.76T>C; p.Y26H; 17:6758132-6758132

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4G>A; p.E2K; 17:6756082-6756082

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.225+1G>T; p.?; 17:6759719-6759719

 soft_tissue; blood_vesselangiosarcomaUnknown

c.804T>C; p.S268S; 17:6770939-6770939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.50C>A; p.S17Y; 17:6758106-6758106

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.484G>T; p.E162*; 17:6762217-6762217

 central_nervous_system; braingliomaSubstitution - Nonsense

c.244C>T; p.R82C; 17:6760424-6760424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.244C>T; p.R82C; 17:6760424-6760424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.244C>T; p.R82C; 17:6760424-6760424

 large_intestine; coloncarcinomaSubstitution - Missense

c.244C>T; p.R82C; 17:6760424-6760424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.81C>T; p.C27C; 17:6758137-6758137

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.516T>C; p.C172C; 17:6770651-6770651

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.309C>T; p.S103S; 17:6760489-6760489

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.785A>T; p.D262V; 17:6770920-6770920

 central_nervous_system; midbrainglioma; oligoastrocytoma_Grade_IIISubstitution - Missense

c.859C>T; p.R287W; 17:6773122-6773122

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.859C>T; p.R287W; 17:6773122-6773122

 breastcarcinomaSubstitution - Missense

c.395G>A; p.R132H; 17:6760575-6760575

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.396C>G; p.R132R; 17:6760576-6760576

 thyroidother; neoplasmSubstitution - coding silent

c.214G>C; p.E72Q; 17:6759707-6759707

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.166C>A; p.Q56K; 17:6758222-6758222

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.166C>A; p.Q56K; 17:6758222-6758222

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.560C>T; p.P187L; 17:6770695-6770695

 skinmalignant_melanomaSubstitution - Missense

c.651A>T; p.I217I; 17:6770786-6770786

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.48C>T; p.V16V; 17:6758104-6758104

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.691G>A; p.A231T; 17:6770826-6770826

 skinmalignant_melanomaSubstitution - Missense

c.394C>T; p.R132C; 17:6760574-6760574

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.564A>T; p.E188D; 17:6770699-6770699

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.633T>C; p.R211R; 17:6770768-6770768

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.209C>T; p.S70L; 17:6759702-6759702

 skinmalignant_melanomaSubstitution - Missense

c.28A>T; p.N10Y; 17:6756106-6756106

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.335G>A; p.C112Y; 17:6760515-6760515

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.335G>A; p.C112Y; 17:6760515-6760515

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

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