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

Basic Information

Gene ID

9021

Name

SOCS3

Synonymous

suppressor of cytokine signaling 3;SOCS3;suppressor of cytokine signaling 3

Definition

STAT-induced STAT inhibitor 3|cytokine-inducible SH2 protein 3

Position

17q25.3

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 0.08.

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.318C>T; p.S106S; 17:78358778-78358778

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.92A>G; p.Y31C; 17:78359004-78359004

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.211C>T; p.R71C; 17:78358885-78358885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.429C>T; p.P143P; 17:78358667-78358667

 skinmalignant_melanomaSubstitution - coding silent

c.246C>T; p.L82L; 17:78358850-78358850

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.221C>T; p.S74L; 17:78358875-78358875

 skinmalignant_melanomaSubstitution - Missense

c.133G>T; p.G45C; 17:78358963-78358963

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.160G>A; p.G54S; 17:78358936-78358936

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.417A>T; p.P139P; 17:78358679-78358679

 skinmalignant_melanomaSubstitution - coding silent

c.212G>A; p.R71H; 17:78358884-78358884

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.624C>T; p.T208T; 17:78358472-78358472

 skinmalignant_melanomaSubstitution - coding silent

c.346C>T; p.R116C; 17:78358750-78358750

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.183T>G; p.S61R; 17:78358913-78358913

 kidneyother; neoplasmSubstitution - Missense

c.280C>T; p.R94C; 17:78358816-78358816

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.280C>T; p.R94C; 17:78358816-78358816

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.507C>T; p.S169S; 17:78358589-78358589

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.589G>A; p.V197I; 17:78358507-78358507

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.294G>A; p.E98E; 17:78358802-78358802

 skinmalignant_melanomaSubstitution - coding silent

c.328A>G; p.S110G; 17:78358768-78358768

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.634G>A; p.G212R; 17:78358462-78358462

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.214G>T; p.D72Y; 17:78358882-78358882

 livercarcinomaSubstitution - Missense

c.214G>T; p.D72Y; 17:78358882-78358882

 livercarcinomaSubstitution - Missense

c.214G>T; p.D72Y; 17:78358882-78358882

 livercarcinomaSubstitution - Missense

c.624C>A; p.T208T; 17:78358472-78358472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.299delG; p.G100fs*79; 17:78358797-78358797

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.299delG; p.G100fs*79; 17:78358797-78358797

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.299delG; p.G100fs*79; 17:78358797-78358797

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.632C>T; p.P211L; 17:78358464-78358464

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.414G>A; p.S138S; 17:78358682-78358682

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.131G>A; p.S44N; 17:78358965-78358965

 skin; armmalignant_melanomaSubstitution - Missense

c.281G>T; p.R94L; 17:78358815-78358815

 ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.347G>A; p.R116H; 17:78358749-78358749

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.218G>A; p.S73N; 17:78358878-78358878

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.654G>A; p.L218L; 17:78358442-78358442

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.582G>A; p.R194R; 17:78358514-78358514

 pancreascarcinoma; adenocarcinomaSubstitution - coding silent

c.447G>A; p.E149E; 17:78358649-78358649

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.281G>A; p.R94H; 17:78358815-78358815

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.469C>T; p.P157S; 17:78358627-78358627

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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