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

Basic Information

Gene ID

10010

Name

TANK

Synonymous

TRAF family member-associated NFKB activator;TANK;TRAF family member-associated NFKB activator

Definition

TRAF family member-associated NF-kappa-B activator|TRAF-interacting protein

Position

2q24.2

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 0.21.

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.411T>C; p.N137N; 2:161224637-161224637

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1139C>T; p.S380L; 2:161235379-161235379

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1139C>T; p.S380L; 2:161235379-161235379

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1139C>T; p.S380L; 2:161235379-161235379

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.923A>C; p.K308T; 2:161231373-161231373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1219_1220ins59; p.T408fs*4; 2:161235459-161235460

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningInsertion - Frameshift

c.415G>A; p.E139K; 2:161224641-161224641

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.981G>A; p.A327A; 2:161231431-161231431

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.512C>T; p.T171I; 2:161224738-161224738

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.575C>T; p.A192V; 2:161231025-161231025

 breastcarcinomaSubstitution - Missense

c.575C>T; p.A192V; 2:161231025-161231025

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.37T>C; p.Y13H; 2:161179699-161179699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.689C>A; p.S230Y; 2:161231139-161231139

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.670A>T; p.T224S; 2:161231120-161231120

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.420G>T; p.K140N; 2:161224646-161224646

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.919G>A; p.D307N; 2:161231369-161231369

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1074G>A; p.P358P; 2:161231524-161231524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1155C>T; p.G385G; 2:161235395-161235395

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1155C>T; p.G385G; 2:161235395-161235395

 prostatecarcinomaSubstitution - coding silent

c.646G>T; p.G216*; 2:161231096-161231096

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.286G>C; p.D96H; 2:161204752-161204752

 ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.1044T>A; p.S348S; 2:161231494-161231494

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.997G>A; p.D333N; 2:161231447-161231447

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.935C>G; p.S312*; 2:161231385-161231385

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.605T>C; p.I202T; 2:161231055-161231055

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.219T>C; p.Y73Y; 2:161204685-161204685

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.398_399insT; p.E134fs*1; 2:161223985-161223986

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaInsertion - Frameshift

c.472G>A; p.A158T; 2:161224698-161224698

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.472G>A; p.A158T; 2:161224698-161224698

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.120A>T; p.R40S; 2:161203507-161203507

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.88T>A; p.L30I; 2:161179750-161179750

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.932C>T; p.P311L; 2:161231382-161231382

 central_nervous_system; braingliomaSubstitution - Missense

c.458G>A; p.C153Y; 2:161224684-161224684

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.672C>T; p.T224T; 2:161231122-161231122

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1243C>T; p.R415W; 2:161235483-161235483

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.726C>G; p.D242E; 2:161231176-161231176

 breastcarcinomaSubstitution - Missense

c.911A>C; p.K304T; 2:161231361-161231361

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.L193L; 2:161231027-161231027

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.49C>T; p.R17W; 2:161179711-161179711

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.13A>G; p.I5V; 2:161179675-161179675

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1103C>T; p.P368L; 2:161235343-161235343

 skin; neckmalignant_melanomaSubstitution - Missense

c.368C>A; p.S123*; 2:161223955-161223955

 pancreascarcinoma; acinar_carcinomaSubstitution - Nonsense

c.295delA; p.I99fs*4; 2:161204761-161204761

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.35C>T; p.A12V; 2:161179697-161179697

 central_nervous_system; braingliomaSubstitution - Missense

c.1033C>G; p.L345V; 2:161231483-161231483

 breastcarcinomaSubstitution - Missense

c.548G>A; p.C183Y; 2:161230998-161230998

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.18C>T; p.G6G; 2:161179680-161179680

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.64G>A; p.D22N; 2:161179726-161179726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.888A>G; p.I296M; 2:161231338-161231338

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1070C>A; p.S357Y; 2:161231520-161231520

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.930G>A; p.K310K; 2:161231380-161231380

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1189G>T; p.E397*; 2:161235429-161235429

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.927_928delAA; p.K310fs*15; 2:161231377-161231378

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1061C>G; p.S354*; 2:161231511-161231511

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

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