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

Basic Information

Gene ID

8651

Name

SOCS1

Synonymous

suppressor of cytokine signaling 1;SOCS1;suppressor of cytokine signaling 1

Definition

JAK binding protein|JAK-binding protein|STAT induced SH3 protein 1|STAT-induced STAT inhibitor 1|TIP-3|Tec-interacting protein 3|cytokine-inducible SH2 protein 1

Position

16p13.13

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

Top

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.50.

The copy number variations for various cancers

Top

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.314A>C; p.D105A; 16:11255165-11255165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.227C>T; p.A76V; 16:11255252-11255252

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.379C>T; p.R127C; 16:11255100-11255100

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.379C>T; p.R127C; 16:11255100-11255100

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.614G>A; p.S205N; 16:11254865-11254865

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.353_367del15; p.K118_P123>T; 16:11255112-11255126

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaComplex - deletion inframe

c.343_349delCTTAGCG; p.L115fs*1; 16:11255130-11255136

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.435_448>GG; p.D145_L150>EV; 16:11255031-11255044

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaComplex - deletion inframe

c.192_541del350; p.Y64fs*1; 16:11254938-11255287

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.193_203del11; p.R65fs*48; 16:11255276-11255286

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.203C>T; p.T68M; 16:11255276-11255276

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.342C>T; p.A114A; 16:11255137-11255137

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.318_377del60; p.R107_I126del; 16:11255102-11255161

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - In frame

c.388_402del15; p.F130_R134del; 16:11255077-11255091

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - In frame

c.616T>C; p.S206P; 16:11254863-11254863

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.622C>T; p.P208S; 16:11254857-11254857

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.260A>G; p.H87R; 16:11255219-11255219

 pancreascarcinomaSubstitution - Missense

c.195G>A; p.R65R; 16:11255284-11255284

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.195G>A; p.R65R; 16:11255284-11255284

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.195G>A; p.R65R; 16:11255284-11255284

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.479G>A; p.R160H; 16:11255000-11255000

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.297C>A; p.G99G; 16:11255182-11255182

 central_nervous_system; braingliomaSubstitution - coding silent

c.358G>A; p.A120T; 16:11255121-11255121

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.358G>A; p.A120T; 16:11255121-11255121

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.541C>T; p.R181C; 16:11254938-11254938

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.541C>T; p.R181C; 16:11254938-11254938

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.236_237ins39; p.F79_Y80ins13; 16:11255242-11255243

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaInsertion - In frame

c.108_171del64; p.A37fs*27; 16:11255308-11255371

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.108_171del64; p.A37fs*27; 16:11255308-11255371

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.528G>A; p.E176E; 16:11254951-11254951

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.526_533delGAGCTGTG; p.E176fs*35; 16:11254946-11254953

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.526_533delGAGCTGTG; p.E176fs*35; 16:11254946-11254953

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.526_533delGAGCTGTG; p.E176fs*35; 16:11254946-11254953

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.190T>A; p.Y64N; 16:11255289-11255289

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.186_323del138; p.D63_Q108del; 16:11255156-11255293

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - In frame

c.511_537del27; p.V171_R179del; 16:11254942-11254968

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - In frame

c.534C>G; p.C178W; 16:11254945-11254945

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.208_257del50; p.S71fs*29; 16:11255222-11255271

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.491_492insG; p.L166fs*>47; 16:11254987-11254988

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.356T>C; p.M119T; 16:11255123-11255123

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.372G>A; p.T124T; 16:11255107-11255107

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.?; p.?; 16:11255480-11255480

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.318C>G; p.S106R; 16:11255161-11255161

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.345T>G; p.L115L; 16:11255134-11255134

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.191_218del28; p.Y64fs*12; 16:11255261-11255288

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.145_149delGCCCC; p.A49fs*66; 16:11255330-11255334

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisDeletion - Frameshift

c.83C>T; p.S28F; 16:11255396-11255396

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.18G>C; p.Q6H; 16:11255461-11255461

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.431_512del82; p.F144fs*34; 16:11254967-11255048

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.236T>G; p.F79C; 16:11255243-11255243

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.80C>T; p.S27F; 16:11255399-11255399

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; plasmacytomaSubstitution - Missense

c.177_195del19; p.S60fs*19; 16:11255284-11255302

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.46G>C; p.A16P; 16:11255433-11255433

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.495_502delGCTGCGCC; p.L166fs*45; 16:11254977-11254984

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.454_464del11; p.E152fs*58; 16:11255015-11255025

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.454_464del11; p.E152fs*58; 16:11255015-11255025

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.404T>G; p.F135C; 16:11255075-11255075

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.483_489delGCTGGGG; p.L162fs*41; 16:11254990-11254996

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.46G>A; p.A16T; 16:11255433-11255433

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.630G>C; p.Q210H; 16:11254849-11254849

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.46G>A; p.A16T; 16:11255433-11255433

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.46G>A; p.A16T; 16:11255433-11255433

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.621C>T; p.F207F; 16:11254858-11254858

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.630G>C; p.Q210H; 16:11254849-11254849

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.630G>C; p.Q210H; 16:11254849-11254849

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.197G>C; p.R66P; 16:11255282-11255282

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.347G>A; p.S116N; 16:11255132-11255132

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.265G>A; p.A89T; 16:11255214-11255214

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.348C>A; p.S116R; 16:11255131-11255131

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.490delG; p.A164fs*41; 16:11254989-11254989

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.241T>A; p.W81R; 16:11255238-11255238

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.617C>A; p.S206Y; 16:11254862-11254862

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.190_200del11; p.Y64fs*49; 16:11255279-11255289

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.?; p.?; 16:11254783-11254784

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.7G>A; p.A3T; 16:11255472-11255472

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.393_407del15; p.Q131_H136>H; 16:11255072-11255086

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - In frame

c.7G>A; p.A3T; 16:11255472-11255472

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.391C>A; p.Q131K; 16:11255088-11255088

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.379_636del258; p.R127_*212del; 16:11254843-11255100

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - In frame

c.636+24A>G; p.?; 16:11254819-11254819

 breastcarcinomaUnknown

c.240C>G; p.Y80*; 16:11255239-11255239

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.4G>A; p.V2I; 16:11255475-11255475

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.150_166del17; p.G51fs*60; 16:11255313-11255329

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.384G>A; p.V128V; 16:11255095-11255095

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.14A>G; p.N5S; 16:11255465-11255465

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.99C>T; p.P33P; 16:11255380-11255380

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.127C>T; p.P43S; 16:11255352-11255352

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.99C>T; p.P33P; 16:11255380-11255380

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.349_359del11; p.V117fs*93; 16:11255120-11255130

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.349_359del11; p.V117fs*93; 16:11255120-11255130

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; Hodgkin_lymphomaDeletion - Frameshift

c.360C>T; p.A120A; 16:11255119-11255119

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.592C>T; p.P198S; 16:11254887-11254887

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.592C>T; p.P198S; 16:11254887-11254887

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.471_482del12; p.P158_M161del; 16:11254997-11255008

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - In frame

c.602G>A; p.R201H; 16:11254877-11254877

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.552_575del24; p.A184_L191del; 16:11254904-11254927

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - In frame

c.552_575del24; p.A184_L191del; 16:11254904-11254927

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - In frame

c.184G>C; p.A62P; 16:11255295-11255295

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.49G>A; p.A17T; 16:11255430-11255430

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.49G>A; p.A17T; 16:11255430-11255430

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.216_225del10; p.L73fs*9; 16:11255254-11255263

 haematopoietic_and_lymphoid_tissue; mediastinumlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.603C>T; p.R201R; 16:11254876-11254876

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.16C>T; p.Q6*; 16:11255463-11255463

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

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