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

Basic Information

Gene ID

3605

Name

IL17A

Synonymous

interleukin 17A;IL17A;interleukin 17A

Definition

CTLA-8|cytotoxic T-lymphocyte-associated antigen 8|cytotoxic T-lymphocyte-associated protein 8|interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)|interleukin-17A

Position

6p12

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.71G>A; p.G24E; 6:52187646-52187646

 skin; trunkmalignant_melanomaSubstitution - Missense

c.206G>A; p.R69Q; 6:52187781-52187781

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.444C>A; p.T148T; 6:52189268-52189268

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.173C>A; p.T58N; 6:52187748-52187748

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.180C>G; p.P60P; 6:52187755-52187755

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.401G>T; p.R134L; 6:52189225-52189225

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.18C>T; p.T6T; 6:52186449-52186449

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.27+7C>T; p.?; 6:52186465-52186465

 oesophaguscarcinoma; adenocarcinomaUnknown

c.284G>A; p.R95H; 6:52189108-52189108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.399_400CC>AA; p.F133L; 6:52189223-52189224

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.422C>A; p.S141Y; 6:52189246-52189246

 ovaryother; neoplasmSubstitution - Missense

c.42G>A; p.L14L; 6:52187617-52187617

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.206G>T; p.R69L; 6:52187781-52187781

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.G32R; 6:52187669-52187669

 skinmalignant_melanomaSubstitution - Missense

c.426G>T; p.V142V; 6:52189250-52189250

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.160C>T; p.R54W; 6:52187735-52187735

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.395C>T; p.S132F; 6:52189219-52189219

 skinmalignant_melanomaSubstitution - Missense

c.174C>T; p.T58T; 6:52187749-52187749

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.345C>A; p.I115I; 6:52189169-52189169

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.186G>A; p.R62R; 6:52187761-52187761

 skinmalignant_melanomaSubstitution - coding silent

c.86G>A; p.R29Q; 6:52187661-52187661

 skinmalignant_melanomaSubstitution - Missense

c.86G>A; p.R29Q; 6:52187661-52187661

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.123C>T; p.F41F; 6:52187698-52187698

 skinmalignant_melanomaSubstitution - coding silent

c.123C>T; p.F41F; 6:52187698-52187698

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.352G>A; p.E118K; 6:52189176-52189176

 skinmalignant_melanomaSubstitution - Missense

c.253T>C; p.Y85H; 6:52189077-52189077

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.253T>C; p.Y85H; 6:52189077-52189077

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.253T>C; p.Y85H; 6:52189077-52189077

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.291_292GG>TT; p.L97_G98>FC; 6:52189115-52189116

 lung; right_upper_lobecarcinoma; adenocarcinomaComplex - compound substitution

c.373G>T; p.E125*; 6:52189197-52189197

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.428G>A; p.G143D; 6:52189252-52189252

 prostatecarcinomaSubstitution - Missense

c.82C>T; p.P28S; 6:52187657-52187657

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.399C>A; p.F133L; 6:52189223-52189223

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.232C>T; p.R78C; 6:52189056-52189056

 prostateadenomaSubstitution - Missense

c.238G>A; p.E80K; 6:52189062-52189062

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274G>T; p.A92S; 6:52189098-52189098

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.147G>A; p.L49L; 6:52187722-52187722

 skinmalignant_melanomaSubstitution - coding silent

c.12G>A; p.G4G; 6:52186443-52186443

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.401G>A; p.R134Q; 6:52189225-52189225

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.468A>C; p.*156Y; 6:52189292-52189292

 large_intestinecarcinoma; adenocarcinomaNonstop extension

c.468A>C; p.*156Y; 6:52189292-52189292

 large_intestine; coloncarcinomaNonstop extension

c.393C>T; p.N131N; 6:52189217-52189217

 pancreascarcinomaSubstitution - coding silent

c.7C>T; p.P3S; 6:52186438-52186438

 skinmalignant_melanomaSubstitution - Missense

c.7C>T; p.P3S; 6:52186438-52186438

 skinmalignant_melanomaSubstitution - Missense

c.449T>C; p.I150T; 6:52189273-52189273

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.107C>A; p.S36Y; 6:52187682-52187682

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.188C>A; p.S63Y; 6:52187763-52187763

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.216A>C; p.S72S; 6:52187791-52187791

 breastcarcinomaSubstitution - coding silent

c.326A>C; p.H109P; 6:52189150-52189150

 ovaryother; neoplasmSubstitution - Missense

c.304G>A; p.A102T; 6:52189128-52189128

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.124C>T; p.P42S; 6:52187699-52187699

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.11G>A; p.G4E; 6:52186442-52186442

 skinmalignant_melanomaSubstitution - Missense

c.447G>A; p.P149P; 6:52189271-52189271

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.179C>T; p.P60L; 6:52187754-52187754

 skinmalignant_melanomaSubstitution - Missense

c.371G>A; p.R124K; 6:52189195-52189195

 skinmalignant_melanomaSubstitution - Missense

c.462G>A; p.V154V; 6:52189286-52189286

 skinmalignant_melanomaSubstitution - coding silent

c.180C>A; p.P60P; 6:52187755-52187755

 prostatecarcinomaSubstitution - coding silent

c.458A>G; p.H153R; 6:52189282-52189282

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.342C>A; p.P114P; 6:52189166-52189166

 breastcarcinomaSubstitution - coding silent

c.161G>A; p.R54Q; 6:52187736-52187736

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.161G>A; p.R54Q; 6:52187736-52187736

 skinmalignant_melanomaSubstitution - Missense

c.125C>T; p.P42L; 6:52187700-52187700

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.211A>C; p.T71P; 6:52187786-52187786

 breastcarcinomaSubstitution - Missense

c.283C>T; p.R95C; 6:52189107-52189107

 prostatecarcinomaSubstitution - Missense

c.95G>A; p.G32E; 6:52187670-52187670

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.43C>T; p.L15L; 6:52187618-52187618

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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