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

Basic Information

Gene ID

6392

Name

SDHD

Synonymous

succinate dehydrogenase complex, subunit D, integral membrane protein;SDHD;succinate dehydrogenase complex, subunit D, integral membrane protein

Definition

succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial|succinate-ubiquinone oxidoreductase cytochrome b small subunit|succinate-ubiquinone reductase membrane anchor subunit

Position

11q23

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.291A>T; p.A97A; 11:112088988-112088988

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.10C>T; p.L4F; 11:112086917-112086917

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.479G>T; p.*160L; 11:112094969-112094969

 skinmalignant_melanomaNonstop extension

c.91A>G; p.I31V; 11:112087895-112087895

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.209G>A; p.R70K; 11:112088906-112088906

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.466C>A; p.L156M; 11:112094956-112094956

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.134G>A; p.G45E; 11:112087938-112087938

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.168T>C; p.H56H; 11:112087972-112087972

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.350G>T; p.G117V; 11:112094840-112094840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205G>A; p.E69K; 11:112088902-112088902

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.375G>T; p.K125N; 11:112094865-112094865

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.227T>A; p.L76H; 11:112088924-112088924

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.159G>A; p.P53P; 11:112087963-112087963

 breastcarcinomaSubstitution - coding silent

c.207G>A; p.E69E; 11:112088904-112088904

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.376G>T; p.A126S; 11:112094866-112094866

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.90T>A; p.H30Q; 11:112087894-112087894

 livercarcinomaSubstitution - Missense

c.200C>T; p.T67I; 11:112088897-112088897

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.216C>T; p.V72V; 11:112088913-112088913

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.139C>T; p.Q47*; 11:112087943-112087943

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.477C>G; p.L159L; 11:112094967-112094967

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.201T>C; p.T67T; 11:112088898-112088898

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.359T>C; p.L120S; 11:112094849-112094849

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.266C>G; p.S89C; 11:112088963-112088963

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.65G>A; p.R22Q; 11:112087869-112087869

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.65G>A; p.R22Q; 11:112087869-112087869

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.65G>A; p.R22Q; 11:112087869-112087869

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.65G>A; p.R22Q; 11:112087869-112087869

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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