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

Basic Information

Gene ID

6390

Name

SDHB

Synonymous

succinate dehydrogenase complex, subunit B, iron sulfur (Ip);SDHB;succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

Definition

iron-sulfur subunit of complex II|succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial

Position

1p36.1-p35

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 0.06.

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.113G>A; p.R38H; 1:17044848-17044848

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.74C>T; p.A25V; 1:17044887-17044887

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.793G>C; p.E265Q; 1:17018931-17018931

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.21C>T; p.L7L; 1:17053999-17053999

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.219_220GG>AA; p.D74N; 1:17033126-17033127

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.187G>A; p.V63I; 1:17044774-17044774

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.543C>T; p.D181D; 1:17024072-17024072

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.426T>G; p.D142E; 1:17027863-17027863

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.634C>T; p.L212F; 1:17023981-17023981

 skinmalignant_melanomaSubstitution - Missense

c.4G>C; p.A2P; 1:17054016-17054016

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.317A>G; p.N106S; 1:17028706-17028706

 breastcarcinomaSubstitution - Missense

c.488C>A; p.S163Y; 1:17027801-17027801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.278G>A; p.C93Y; 1:17033068-17033068

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.593G>A; p.S198N; 1:17024022-17024022

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.281G>C; p.R94T; 1:17033065-17033065

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.688C>T; p.R230C; 1:17022685-17022685

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.688C>T; p.R230C; 1:17022685-17022685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.688C>T; p.R230C; 1:17022685-17022685

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.632T>C; p.V211A; 1:17023983-17023983

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.812C>T; p.A271V; 1:17018912-17018912

 livercarcinomaSubstitution - Missense

c.294T>C; p.C98C; 1:17028729-17028729

 livercarcinomaSubstitution - coding silent

c.294T>C; p.C98C; 1:17028729-17028729

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.626C>A; p.P209H; 1:17023989-17023989

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.482A>G; p.D161G; 1:17027807-17027807

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.98C>T; p.A33V; 1:17044863-17044863

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.386C>G; p.P129R; 1:17028637-17028637

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.553G>A; p.E185K; 1:17024062-17024062

 breastcarcinomaSubstitution - Missense

c.840T>G; p.V280V; 1:17018884-17018884

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.136C>T; p.R46*; 1:17044825-17044825

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

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