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

Basic Information

Gene ID

6502

Name

SKP2

Synonymous

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase;SKP2;S-phase kinase-associated protein 2, E3 ubiquitin protein ligase

Definition

CDK2/cyclin A-associated protein p45|F-box/LRR-repeat protein 1|S-phase kinase-associated protein 2|S-phase kinase-associated protein 2 (p45)|p45skp2

Position

5p13

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 0.00.

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.213G>A; p.K71K; 5:36152975-36152975

breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.902-1G>C; p.?; 5:36176964-36176964

ovarycarcinoma; serous_carcinomaUnknown

c.503C>T; p.S168L; 5:36166629-36166629

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.404C>T; p.S135F; 5:36166530-36166530

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense


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