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

Basic Information

Gene ID

857

Name

CAV1

Synonymous

caveolin 1, caveolae protein, 22kDa;CAV1;caveolin 1, caveolae protein, 22kDa

Definition

caveolin-1|cell growth-inhibiting protein 32

Position

7q31.1

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 0.00.

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.32G>C; p.G11A; 7:116526526-116526526

 breastcarcinomaSubstitution - Missense

c.129C>T; p.D43D; 7:116526623-116526623

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.43A>G; p.T15A; 7:116526537-116526537

 skinmalignant_melanomaSubstitution - Missense

c.386C>A; p.A129E; 7:116559136-116559136

 breastcarcinomaSubstitution - Missense

c.305T>G; p.L102W; 7:116559055-116559055

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.56G>A; p.R19Q; 7:116526550-116526550

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.436C>T; p.R146C; 7:116559186-116559186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.38T>A; p.L13H; 7:116526532-116526532

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.272C>T; p.T91I; 7:116559022-116559022

 skinmalignant_melanomaSubstitution - Missense

c.58G>A; p.E20K; 7:116526552-116526552

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.263G>C; p.S88T; 7:116559013-116559013

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.525G>A; p.Q175Q; 7:116559275-116559275

 skinmalignant_melanomaSubstitution - coding silent

c.177C>G; p.L59L; 7:116526671-116526671

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.330G>A; p.P110P; 7:116559080-116559080

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.284C>T; p.T95M; 7:116559034-116559034

 pancreascarcinomaSubstitution - Missense

c.284C>T; p.T95M; 7:116559034-116559034

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.46G>A; p.V16I; 7:116526540-116526540

 pancreascarcinomaSubstitution - Missense

c.394C>T; p.P132S; 7:116559144-116559144

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.266T>C; p.F89S; 7:116559016-116559016

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.219A>G; p.A73A; 7:116558969-116558969

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.529G>C; p.E177Q; 7:116559279-116559279

 breastcarcinomaSubstitution - Missense

c.329C>T; p.P110L; 7:116559079-116559079

 large_intestine; caecumadenomaSubstitution - Missense

c.273C>A; p.T91T; 7:116559023-116559023

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.301C>T; p.R101C; 7:116559051-116559051

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.62A>T; p.Q21L; 7:116526556-116526556

 breastcarcinomaSubstitution - Missense

c.199G>T; p.D67Y; 7:116558949-116558949

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.283A>G; p.T95A; 7:116559033-116559033

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.358G>A; p.A120T; 7:116559108-116559108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.135C>T; p.H45H; 7:116526629-116526629

 breastcarcinomaSubstitution - coding silent

c.511C>T; p.R171C; 7:116559261-116559261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.511C>T; p.R171C; 7:116559261-116559261

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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