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

Basic Information

Gene ID

6767

Name

ST13

Synonymous

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein);ST13;suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)

Definition

Hsp70-interacting protein|aging-associated protein 2|heat shock 70kD protein binding protein|hsc70-interacting protein|progesterone receptor-associated p48 protein|putative tumor suppressor ST13|renal carcinoma antigen NY-REN-33|suppression of tumorigenic

Position

22q13.2

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 0.08.

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.505C>G; p.R169G; 22:40835633-40835633

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.734G>A; p.R245Q; 22:40830904-40830904

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.730G>C; p.E244Q; 22:40830908-40830908

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.24G>T; p.E8D; 22:40856517-40856517

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.247A>C; p.I83L; 22:40844907-40844907

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.949C>A; p.L317I; 22:40827128-40827128

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.241C>T; p.L81L; 22:40848297-40848297

 skinmalignant_melanomaSubstitution - coding silent

c.131C>T; p.P44L; 22:40850860-40850860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.959C>T; p.P320L; 22:40827118-40827118

 skinmalignant_melanomaSubstitution - Missense

c.562C>T; p.R188W; 22:40835576-40835576

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.355G>T; p.V119L; 22:40840653-40840653

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.157G>A; p.E53K; 22:40850834-40850834

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157G>A; p.E53K; 22:40850834-40850834

 skin; extremitymalignant_melanomaSubstitution - Missense

c.799-10T>C; p.?; 22:40829684-40829684

 livercarcinoma; hepatocellular_carcinomaUnknown

c.224C>T; p.S75L; 22:40848314-40848314

 skinmalignant_melanomaSubstitution - Missense

c.704G>A; p.R235Q; 22:40830934-40830934

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.30G>A; p.R10R; 22:40856511-40856511

 livercarcinomaSubstitution - coding silent

c.21C>T; p.N7N; 22:40856520-40856520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.902G>T; p.G301V; 22:40827175-40827175

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.724C>T; p.R242C; 22:40830914-40830914

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.758G>A; p.R253Q; 22:40830880-40830880

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.792C>A; p.A264A; 22:40830846-40830846

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.F30F; 22:40856451-40856451

 skinmalignant_melanomaSubstitution - coding silent

c.772C>T; p.R258*; 22:40830866-40830866

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.961G>C; p.E321Q; 22:40827116-40827116

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1107G>T; p.A369A; 22:40826541-40826541

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.33C>T; p.A11A; 22:40856508-40856508

 skinmalignant_melanomaSubstitution - coding silent

c.903A>C; p.G301G; 22:40827174-40827174

 skinmalignant_melanomaSubstitution - coding silent

c.1107G>A; p.A369A; 22:40826541-40826541

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.293A>G; p.E98G; 22:40844861-40844861

 livercarcinomaSubstitution - Missense

c.293A>G; p.E98G; 22:40844861-40844861

 livercarcinomaSubstitution - Missense

c.597A>G; p.E199E; 22:40832653-40832653

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.597A>G; p.E199E; 22:40832653-40832653

 livercarcinomaSubstitution - coding silent

c.312G>C; p.A104A; 22:40844842-40844842

 livercarcinomaSubstitution - coding silent

c.761T>A; p.V254D; 22:40830877-40830877

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.311C>T; p.A104V; 22:40844843-40844843

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1103A>G; p.Q368R; 22:40826545-40826545

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.437G>A; p.R146H; 22:40835833-40835833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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