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

Basic Information

Gene ID

29948

Name

OSGIN1

Synonymous

oxidative stress induced growth inhibitor 1;OSGIN1;oxidative stress induced growth inhibitor 1

Definition

bone marrow stromal cell-derived growth inhibitor|ovary, kidney and liver protein 38|oxidative stress-induced growth inhibitor 1|pregnancy-induced growth inhibitor OKL38

Position

16q23.3

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

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

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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

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.1502A>G; p.Q501R; 16:83965826-83965826

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.1330C>A; p.L444I; 16:83965654-83965654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367C>T; p.P123S; 16:83959310-83959310

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.529C>T; p.R177C; 16:83960644-83960644

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.502G>A; p.V168M; 16:83960617-83960617

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.357C>T; p.S119S; 16:83959300-83959300

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1179G>A; p.P393P; 16:83965503-83965503

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1125C>T; p.G375G; 16:83965449-83965449

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.594C>T; p.H198H; 16:83960709-83960709

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1143C>T; p.A381A; 16:83965467-83965467

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1153C>T; p.L385F; 16:83965477-83965477

 skinmalignant_melanomaSubstitution - Missense

c.1153C>T; p.L385F; 16:83965477-83965477

 skinmalignant_melanomaSubstitution - Missense

c.968G>A; p.R323H; 16:83965292-83965292

 thyroidcarcinomaSubstitution - Missense

c.1562G>A; p.R521H; 16:83965886-83965886

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1251C>T; p.Y417Y; 16:83965575-83965575

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1104A>G; p.S368S; 16:83965428-83965428

 thyroidother; neoplasmSubstitution - coding silent

c.871C>G; p.P291A; 16:83965195-83965195

 skinmalignant_melanomaSubstitution - Missense

c.738-5A>G; p.?; 16:83965057-83965057

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.763G>T; p.A255S; 16:83965087-83965087

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.727A>G; p.K243E; 16:83961062-83961062

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1418C>T; p.S473F; 16:83965742-83965742

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1418C>T; p.S473F; 16:83965742-83965742

 skinmalignant_melanomaSubstitution - Missense

c.1020C>T; p.I340I; 16:83965344-83965344

 skinmalignant_melanomaSubstitution - coding silent

c.584G>A; p.R195Q; 16:83960699-83960699

 skinmalignant_melanomaSubstitution - Missense

c.1643C>T; p.A548V; 16:83965967-83965967

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.37A>G; p.N13D; 16:83949486-83949486

 thyroidother; neoplasmSubstitution - Missense

c.1203C>T; p.A401A; 16:83965527-83965527

 pancreascarcinomaSubstitution - coding silent

c.1072G>A; p.A358T; 16:83965396-83965396

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.321C>T; p.N107N; 16:83959264-83959264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.407T>C; p.L136P; 16:83959350-83959350

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.280G>A; p.A94T; 16:83957702-83957702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.101A>C; p.N34T; 16:83951171-83951171

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.101A>C; p.N34T; 16:83951171-83951171

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.604C>A; p.H202N; 16:83960719-83960719

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.604C>A; p.H202N; 16:83960719-83960719

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.101A>C; p.N34T; 16:83951171-83951171

 thyroidother; neoplasmSubstitution - Missense

c.298C>T; p.L100F; 16:83957720-83957720

 livercarcinomaSubstitution - Missense

c.298C>T; p.L100F; 16:83957720-83957720

 livercarcinomaSubstitution - Missense

c.583C>T; p.R195W; 16:83960698-83960698

 central_nervous_system; braingliomaSubstitution - Missense

c.766G>C; p.G256R; 16:83965090-83965090

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.575G>A; p.W192*; 16:83960690-83960690

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.630C>T; p.P210P; 16:83960745-83960745

 skinmalignant_melanomaSubstitution - coding silent

c.630C>T; p.P210P; 16:83960745-83960745

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.630C>T; p.P210P; 16:83960745-83960745

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1423G>A; p.V475M; 16:83965747-83965747

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.481G>A; p.E161K; 16:83960596-83960596

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1597delG; p.D534fs*4; 16:83965921-83965921

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1089G>T; p.A363A; 16:83965413-83965413

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1437C>T; p.I479I; 16:83965761-83965761

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1414G>A; p.V472I; 16:83965738-83965738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.429C>T; p.A143A; 16:83959372-83959372

 skinmalignant_melanomaSubstitution - coding silent

c.1136C>G; p.S379*; 16:83965460-83965460

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1009C>T; p.R337W; 16:83965333-83965333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.277G>A; p.G93S; 16:83957699-83957699

 pancreascarcinomaSubstitution - Missense

c.388A>T; p.I130F; 16:83959331-83959331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1578C>T; p.Y526Y; 16:83965902-83965902

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1046A>G; p.H349R; 16:83965370-83965370

 livercarcinomaSubstitution - Missense

c.1046A>G; p.H349R; 16:83965370-83965370

 livercarcinomaSubstitution - Missense

c.513C>T; p.L171L; 16:83960628-83960628

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.907T>G; p.F303V; 16:83965231-83965231

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.850G>A; p.V284M; 16:83965174-83965174

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.317-4C>T; p.?; 16:83959256-83959256

 kidneyother; neoplasmUnknown

c.1461C>T; p.F487F; 16:83965785-83965785

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1623delG; p.G543fs*10; 16:83965947-83965947

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1078A>G; p.R360G; 16:83965402-83965402

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.445C>T; p.L149L; 16:83959388-83959388

 skinmalignant_melanomaSubstitution - coding silent

c.1151T>C; p.V384A; 16:83965475-83965475

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1151T>C; p.V384A; 16:83965475-83965475

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.745C>T; p.R249C; 16:83965069-83965069

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.57+7C>A; p.?; 16:83949513-83949513

 livercarcinoma; hepatocellular_carcinomaUnknown

c.1418_1419CC>TT; p.S473F; 16:83965742-83965743

 skinmalignant_melanomaSubstitution - Missense

c.470C>T; p.S157F; 16:83960585-83960585

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29G>T; p.C10F; 16:83949478-83949478

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.996C>T; p.F332F; 16:83965320-83965320

 skinmalignant_melanomaSubstitution - coding silent

c.619C>T; p.R207W; 16:83960734-83960734

 skinmalignant_melanomaSubstitution - Missense

c.1210G>C; p.D404H; 16:83965534-83965534

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.922T>C; p.F308L; 16:83965246-83965246

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.430C>T; p.P144S; 16:83959373-83959373

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.871C>T; p.P291S; 16:83965195-83965195

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.871C>T; p.P291S; 16:83965195-83965195

 skinmalignant_melanomaSubstitution - Missense

c.311T>C; p.I104T; 16:83957733-83957733

 pancreascarcinomaSubstitution - Missense

c.1327A>C; p.S443R; 16:83965651-83965651

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.38A>T; p.N13I; 16:83949487-83949487

 thyroidother; neoplasmSubstitution - Missense

c.766G>A; p.G256R; 16:83965090-83965090

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.501C>T; p.P167P; 16:83960616-83960616

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.930C>A; p.T310T; 16:83965254-83965254

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.857G>T; p.W286L; 16:83965181-83965181

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1534G>A; p.V512M; 16:83965858-83965858

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.991A>G; p.T331A; 16:83965315-83965315

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1396G>A; p.V466I; 16:83965720-83965720

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.830C>G; p.S277C; 16:83965154-83965154

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.568C>A; p.L190I; 16:83960683-83960683

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1516A>G; p.K506E; 16:83965840-83965840

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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