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

Basic Information

Gene ID

4856

Name

NOV

Synonymous

nephroblastoma overexpressed;NOV;nephroblastoma overexpressed

Definition

CCN family member 3|IGF-binding protein 9|insulin-like growth factor-binding protein 9|nephroblastoma-overexpressed gene protein homolog|protein NOV homolog

Position

8q24.1

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 0.02.

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.152C>T; p.A51V; 8:119416811-119416811

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.71A>G; p.H24R; 8:119416603-119416603

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.741G>T; p.R247R; 8:119419309-119419309

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1032C>A; p.F344L; 8:119423090-119423090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.380G>A; p.C127Y; 8:119418127-119418127

 livercarcinomaSubstitution - Missense

c.687C>T; p.T229T; 8:119419255-119419255

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.125G>A; p.R42Q; 8:119416784-119416784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.272G>C; p.R91P; 8:119416931-119416931

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.125G>A; p.R42Q; 8:119416784-119416784

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.125G>A; p.R42Q; 8:119416784-119416784

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.125G>A; p.R42Q; 8:119416784-119416784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.125G>A; p.R42Q; 8:119416784-119416784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.274A>T; p.S92C; 8:119416933-119416933

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.720G>T; p.Q240H; 8:119419288-119419288

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.351C>T; p.Y117Y; 8:119418098-119418098

 skinmalignant_melanomaSubstitution - coding silent

c.844A>C; p.T282P; 8:119422902-119422902

 thyroidother; neoplasmSubstitution - Missense

c.724C>T; p.R242W; 8:119419292-119419292

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.955C>T; p.Q319*; 8:119423013-119423013

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.72T>C; p.H24H; 8:119416604-119416604

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.72T>C; p.H24H; 8:119416604-119416604

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.72T>C; p.H24H; 8:119416604-119416604

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.481G>C; p.V161L; 8:119418228-119418228

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.369T>G; p.F123L; 8:119418116-119418116

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.387C>A; p.F129L; 8:119418134-119418134

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.863A>G; p.K288R; 8:119422921-119422921

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.863A>G; p.K288R; 8:119422921-119422921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.451C>T; p.P151S; 8:119418198-119418198

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.801C>A; p.T267T; 8:119422859-119422859

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.864G>C; p.K288N; 8:119422922-119422922

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.311C>T; p.A104V; 8:119418058-119418058

 pancreascarcinomaSubstitution - Missense

c.311C>T; p.A104V; 8:119418058-119418058

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.796C>T; p.R266C; 8:119422854-119422854

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.859T>A; p.Y287N; 8:119422917-119422917

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.706G>A; p.E236K; 8:119419274-119419274

 breastcarcinomaSubstitution - Missense

c.698G>A; p.R233H; 8:119419266-119419266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.523C>G; p.P175A; 8:119418270-119418270

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.525A>G; p.P175P; 8:119418272-119418272

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.523C>T; p.P175S; 8:119418270-119418270

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.523C>T; p.P175S; 8:119418270-119418270

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.967A>G; p.K323E; 8:119423025-119423025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.299G>C; p.G100A; 8:119416958-119416958

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.117C>T; p.C39C; 8:119416776-119416776

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.120G>T; p.P40P; 8:119416779-119416779

 livercarcinomaSubstitution - coding silent

c.345C>T; p.V115V; 8:119418092-119418092

 skinmalignant_melanomaSubstitution - coding silent

c.862A>G; p.K288E; 8:119422920-119422920

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.392G>A; p.C131Y; 8:119418139-119418139

 skinmalignant_melanomaSubstitution - Missense

c.524C>T; p.P175L; 8:119418271-119418271

 pancreascarcinomaSubstitution - Missense

c.970C>T; p.P324S; 8:119423028-119423028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.992G>T; p.C331F; 8:119423050-119423050

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.311C>A; p.A104E; 8:119418058-119418058

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.312G>A; p.A104A; 8:119418059-119418059

 pancreascarcinomaSubstitution - coding silent

c.312G>A; p.A104A; 8:119418059-119418059

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.312G>A; p.A104A; 8:119418059-119418059

 pancreascarcinomaSubstitution - coding silent

c.312G>A; p.A104A; 8:119418059-119418059

 pancreascarcinomaSubstitution - coding silent

c.337G>C; p.D113H; 8:119418084-119418084

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.593A>T; p.E198V; 8:119419161-119419161

 kidneyother; neoplasmSubstitution - Missense

c.982A>T; p.I328F; 8:119423040-119423040

 NSNSSubstitution - Missense

c.1032C>T; p.F344F; 8:119423090-119423090

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.804G>T; p.K268N; 8:119422862-119422862

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.167C>T; p.A56V; 8:119416826-119416826

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.740G>T; p.R247L; 8:119419308-119419308

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1059C>T; p.T353T; 8:119423117-119423117

 skinmalignant_melanomaSubstitution - coding silent

c.792T>C; p.C264C; 8:119422850-119422850

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.792T>C; p.C264C; 8:119422850-119422850

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.679C>T; p.R227W; 8:119419247-119419247

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.916A>G; p.T306A; 8:119422974-119422974

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.679C>T; p.R227W; 8:119419247-119419247

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.895C>T; p.R299C; 8:119422953-119422953

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.563C>T; p.A188V; 8:119419131-119419131

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.738G>A; p.V246V; 8:119419306-119419306

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.692G>A; p.R231K; 8:119419260-119419260

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.447A>T; p.L149L; 8:119418194-119418194

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.447A>T; p.L149L; 8:119418194-119418194

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.139C>A; p.P47T; 8:119416798-119416798

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.978G>T; p.M326I; 8:119423036-119423036

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.657C>T; p.S219S; 8:119419225-119419225

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.401G>C; p.R134T; 8:119418148-119418148

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.277G>A; p.A93T; 8:119416936-119416936

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.336C>T; p.F112F; 8:119418083-119418083

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.336C>T; p.F112F; 8:119418083-119418083

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1024G>T; p.E342*; 8:119423082-119423082

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.33C>T; p.L11L; 8:119416565-119416565

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.960A>G; p.I320M; 8:119423018-119423018

 livercarcinomaSubstitution - Missense

c.960A>G; p.I320M; 8:119423018-119423018

 livercarcinomaSubstitution - Missense

c.353G>A; p.R118H; 8:119418100-119418100

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1057A>G; p.T353A; 8:119423115-119423115

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.353G>A; p.R118H; 8:119418100-119418100

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.353G>A; p.R118H; 8:119418100-119418100

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.234G>A; p.L78L; 8:119416893-119416893

 skinmalignant_melanomaSubstitution - coding silent

c.705T>G; p.C235W; 8:119419273-119419273

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.265T>C; p.C89R; 8:119416924-119416924

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.265T>C; p.C89R; 8:119416924-119416924

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1073A>T; p.*358L; 8:119423131-119423131

 oesophaguscarcinomaNonstop extension

c.467C>A; p.P156Q; 8:119418214-119418214

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1005C>T; p.T335T; 8:119423063-119423063

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.988A>G; p.T330A; 8:119423046-119423046

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.532G>A; p.E178K; 8:119418279-119418279

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1033C>T; p.L345F; 8:119423091-119423091

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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