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

Basic Information

Gene ID

10210

Name

TOPORS

Synonymous

topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase;TOPORS;topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase

Definition

E3 ubiquitin-protein ligase Topors|SUMO1-protein E3 ligase Topors|topoisomerase I-binding RING finger protein|tumor suppressor p53-binding protein 3

Position

9p21

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

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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 0.14.

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.554C>A; p.T185K; 9:32543971-32543971

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.875G>A; p.C292Y; 9:32543650-32543650

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1194G>A; p.E398E; 9:32543331-32543331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2346C>T; p.T782T; 9:32542179-32542179

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2766G>A; p.E922E; 9:32541759-32541759

 skinmalignant_melanomaSubstitution - coding silent

c.2422G>A; p.E808K; 9:32542103-32542103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1929A>C; p.K643N; 9:32542596-32542596

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1039C>T; p.R347*; 9:32543486-32543486

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.382G>A; p.V128I; 9:32544143-32544143

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.509C>A; p.S170Y; 9:32544016-32544016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.779G>A; p.R260Q; 9:32543746-32543746

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2422G>T; p.E808*; 9:32542103-32542103

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

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