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

Basic Information

Gene ID

54556

Name

ING3

Synonymous

inhibitor of growth family, member 3;ING3;inhibitor of growth family, member 3

Definition

inhibitor of growth protein 3

Position

7q31

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.962C>T; p.S321F; 7:120970741-120970741

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.728G>A; p.R243Q; 7:120969024-120969024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.44C>T; p.P15L; 7:120951179-120951179

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1048C>G; p.Q350E; 7:120970827-120970827

 livercarcinomaSubstitution - Missense

c.96G>T; p.V32V; 7:120951231-120951231

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1046G>T; p.S349I; 7:120970825-120970825

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.966A>T; p.L322F; 7:120970745-120970745

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.312T>A; p.F104L; 7:120964786-120964786

 kidneyother; neoplasmSubstitution - Missense

c.947C>T; p.S316F; 7:120970726-120970726

 skinmalignant_melanomaSubstitution - Missense

c.424A>T; p.T142S; 7:120966685-120966685

 kidneyother; neoplasmSubstitution - Missense

c.677C>A; p.T226N; 7:120968054-120968054

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.542A>C; p.K181T; 7:120967634-120967634

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.528G>A; p.T176T; 7:120967620-120967620

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.593A>G; p.N198S; 7:120967970-120967970

 livercarcinomaSubstitution - Missense

c.593A>G; p.N198S; 7:120967970-120967970

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1027C>T; p.P343S; 7:120970806-120970806

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.215_216insT; p.L73fs*6; 7:120955572-120955573

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.271G>A; p.D91N; 7:120964745-120964745

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.118G>C; p.E40Q; 7:120953321-120953321

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.162A>G; p.K54K; 7:120953365-120953365

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.630_641del12; p.Y211_G214delYNIG; 7:120968007-120968018

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.898C>T; p.R300*; 7:120969194-120969194

 skinmalignant_melanomaSubstitution - Nonsense

c.399G>T; p.V133V; 7:120966660-120966660

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.739A>C; p.S247R; 7:120969035-120969035

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.967T>A; p.S323T; 7:120970746-120970746

 eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.282G>C; p.L94F; 7:120964756-120964756

 pancreascarcinomaSubstitution - Missense

c.608A>T; p.N203I; 7:120967985-120967985

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.337G>T; p.A113S; 7:120964811-120964811

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.368C>A; p.S123Y; 7:120966629-120966629

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1160A>C; p.H387P; 7:120974747-120974747

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.557-2A>T; p.?; 7:120967932-120967932

 livercarcinomaUnknown

c.243G>T; p.Q81H; 7:120955600-120955600

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.536C>T; p.A179V; 7:120967628-120967628

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.668G>C; p.G223A; 7:120968045-120968045

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.10C>T; p.L4L; 7:120950906-120950906

 skinmalignant_melanomaSubstitution - coding silent

c.720G>A; p.K240K; 7:120969016-120969016

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.872C>T; p.S291L; 7:120969168-120969168

 skinmalignant_melanomaSubstitution - Missense

c.1051G>A; p.V351I; 7:120970830-120970830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.72A>T; p.E24D; 7:120951207-120951207

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.171G>A; p.W57*; 7:120953374-120953374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.557-4A>G; p.?; 7:120967930-120967930

 livercarcinomaUnknown

c.557-4A>G; p.?; 7:120967930-120967930

 livercarcinomaUnknown

c.364C>T; p.R122*; 7:120964838-120964838

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.872C>A; p.S291*; 7:120969168-120969168

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.706A>G; p.T236A; 7:120968083-120968083

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.209A>G; p.Y70C; 7:120955566-120955566

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.85G>A; p.D29N; 7:120951220-120951220

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.773A>G; p.N258S; 7:120969069-120969069

 pancreascarcinomaSubstitution - Missense

c.503C>T; p.S168F; 7:120967595-120967595

 NSmalignant_melanomaSubstitution - Missense

c.219G>T; p.L73F; 7:120955576-120955576

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.622C>T; p.L208L; 7:120967999-120967999

 skinmalignant_melanomaSubstitution - coding silent

c.138C>A; p.F46L; 7:120953341-120953341

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.49G>T; p.D17Y; 7:120951184-120951184

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.563G>A; p.R188Q; 7:120967940-120967940

 breastcarcinomaSubstitution - Missense

c.563G>A; p.R188Q; 7:120967940-120967940

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.34G>C; p.E12Q; 7:120951169-120951169

 kidneyWilms_tumourSubstitution - Missense

c.563G>A; p.R188Q; 7:120967940-120967940

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.809G>C; p.R270T; 7:120969105-120969105

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.896G>T; p.G299V; 7:120969192-120969192

 skinmalignant_melanomaSubstitution - Missense

c.1154G>T; p.W385L; 7:120974741-120974741

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1124G>T; p.G375V; 7:120973227-120973227

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.475G>T; p.D159Y; 7:120967567-120967567

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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