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

Basic Information

Gene ID

79626

Name

TNFAIP8L2

Synonymous

tumor necrosis factor, alpha-induced protein 8-like 2;TNFAIP8L2;tumor necrosis factor, alpha-induced protein 8-like 2

Definition

TNF alpha-induced protein 8-like protein 2|TNFAIP8-like protein 2|inflammation factor 20|inflammation factor protein 20|tumor necrosis factor alpha-induced protein 8-like protein 2|tumor necrosis factor, alpha-induced protein 8-like protein 2

Position

1q21.3

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.246T>A; p.S82R; 1:151158943-151158943

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.24C>A; p.S8R; 1:151158721-151158721

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.182A>C; p.K61T; 1:151158879-151158879

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.370C>T; p.R124W; 1:151159067-151159067

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.510G>C; p.K170N; 1:151159207-151159207

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.545G>A; p.G182E; 1:151159242-151159242

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.481delG; p.P162fs*18; 1:151159178-151159178

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.146A>G; p.Y49C; 1:151158843-151158843

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.146A>G; p.Y49C; 1:151158843-151158843

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.189G>A; p.L63L; 1:151158886-151158886

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.470C>T; p.T157M; 1:151159167-151159167

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.137C>T; p.S46F; 1:151158834-151158834

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.285G>A; p.R95R; 1:151158982-151158982

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.130C>T; p.R44C; 1:151158827-151158827

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.71G>A; p.R24H; 1:151158768-151158768

 breastcarcinomaSubstitution - Missense

c.71G>A; p.R24H; 1:151158768-151158768

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.498G>A; p.Q166Q; 1:151159195-151159195

 skinmalignant_melanomaSubstitution - coding silent

c.112G>A; p.V38M; 1:151158809-151158809

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.59A>C; p.K20T; 1:151158756-151158756

 skinmalignant_melanomaSubstitution - Missense

c.212C>T; p.A71V; 1:151158909-151158909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.184G>A; p.D62N; 1:151158881-151158881

 skin; extremitymalignant_melanomaSubstitution - Missense

c.333C>T; p.F111F; 1:151159030-151159030

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.399C>G; p.H133Q; 1:151159096-151159096

 large_intestine; rectumadenomaSubstitution - Missense

c.289G>A; p.G97S; 1:151158986-151158986

 skinmalignant_melanomaSubstitution - Missense

c.87C>G; p.L29L; 1:151158784-151158784

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.268T>C; p.F90L; 1:151158965-151158965

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.521G>A; p.G174E; 1:151159218-151159218

 skinmalignant_melanomaSubstitution - Missense

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