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

Basic Information

Gene ID

5889

Name

RAD51C

Synonymous

RAD51 paralog C;RAD51C;RAD51 paralog C

Definition

DNA repair protein RAD51 homolog 3|RAD51-like protein 2|yeast RAD51 homolog 3

Position

17q22

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 0.25.

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.12G>A; p.K4K; 17:58692655-58692655

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.354G>A; p.M118I; 17:58695139-58695139

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.211A>G; p.N71D; 17:58694996-58694996

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.259G>A; p.A87T; 17:58695044-58695044

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.135G>C; p.E45D; 17:58692778-58692778

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.61C>T; p.P21S; 17:58692704-58692704

breastcarcinomaSubstitution - Missense

c.145+1G>A; p.?; 17:58692789-58692789

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.61C>A; p.P21T; 17:58692704-58692704

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.314delC; p.S105fs*1; 17:58695099-58695099

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.52C>T; p.P18S; 17:58692695-58692695

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.234A>G; p.T78T; 17:58695019-58695019

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent


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