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

Basic Information

Gene ID

10273

Name

STUB1

Synonymous

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase;STUB1;STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase

Definition

CLL-associated antigen KW-8|E3 ubiquitin-protein ligase CHIP|antigen NY-CO-7|carboxy terminus of Hsp70-interacting protein|heat shock protein A binding protein 2 (c-terminal)|serologically defined colon cancer antigen 7

Position

16p13.3

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 0.16.

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.571A>C; p.S191R; 16:681839-681839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.373A>G; p.K125E; 16:681452-681452

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.597C>T; p.C199C; 16:681865-681865

 breastcarcinomaSubstitution - coding silent

c.840C>T; p.L280L; 16:682417-682417

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.400G>A; p.D134N; 16:681479-681479

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.731G>A; p.C244Y; 16:682226-682226

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.460C>T; p.R154C; 16:681539-681539

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.629A>C; p.D210A; 16:682036-682036

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.331G>C; p.D111H; 16:681323-681323

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.294C>A; p.F98L; 16:681286-681286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535G>C; p.E179Q; 16:681803-681803

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.535G>C; p.E179Q; 16:681803-681803

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.613-1G>T; p.?; 16:682019-682019

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.613-1G>T; p.?; 16:682019-682019

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.786+8delC; p.?; 16:682289-682289

 soft_tissue; striated_musclerhabdomyosarcoma; alveolarUnknown

c.658G>A; p.E220K; 16:682065-682065

 breastcarcinomaSubstitution - Missense

c.27C>T; p.G9G; 16:680552-680552

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.426_428delGAA; p.K145delK; 16:681505-681507

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.426_428delGAA; p.K145delK; 16:681505-681507

 breastcarcinomaDeletion - In frame

c.424G>A; p.A142T; 16:681503-681503

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.555G>T; p.E185D; 16:681823-681823

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.875C>T; p.A292V; 16:682452-682452

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.458G>A; p.R153Q; 16:681537-681537

 skinmalignant_melanomaSubstitution - Missense

c.796C>T; p.H266Y; 16:682373-682373

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.863_865delAGG; p.E288delE; 16:682440-682442

 ovarycarcinomaDeletion - In frame

c.788G>A; p.R263H; 16:682365-682365

 thyroidcarcinomaSubstitution - Missense

c.285G>A; p.K95K; 16:681277-681277

 skinmalignant_melanomaSubstitution - coding silent

c.225G>A; p.Q75Q; 16:681217-681217

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.194A>T; p.N65I; 16:681186-681186

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.710T>C; p.F237S; 16:682205-682205

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.547A>C; p.N183H; 16:681815-681815

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.738G>A; p.T246T; 16:682233-682233

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.717G>C; p.L239L; 16:682212-682212

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.760C>A; p.R254S; 16:682255-682255

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.461G>A; p.R154H; 16:681540-681540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.874G>A; p.A292T; 16:682451-682451

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.433A>C; p.K145Q; 16:681512-681512

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; non_functioningSubstitution - Missense

c.433A>C; p.K145Q; 16:681512-681512

 large_intestine; rectumadenomaSubstitution - Missense

c.341T>C; p.I114T; 16:681333-681333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.690_691insAGT; p.Y230_L231insS; 16:682185-682186

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.766G>C; p.D256H; 16:682261-682261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.123G>A; p.K41K; 16:680648-680648

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.394G>A; p.G132R; 16:681473-681473

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.636C>T; p.D212D; 16:682043-682043

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.378G>A; p.E126E; 16:681457-681457

 breastcarcinomaSubstitution - coding silent

c.454G>A; p.E152K; 16:681533-681533

 skinmalignant_melanomaSubstitution - Missense

c.674G>A; p.R225Q; 16:682169-682169

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.513G>A; p.A171A; 16:681592-681592

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.326G>A; p.S109N; 16:681318-681318

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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