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

Basic Information

Gene ID

8099

Name

CDK2AP1

Synonymous

cyclin-dependent kinase 2 associated protein 1;CDK2AP1;cyclin-dependent kinase 2 associated protein 1

Definition

CDK2-associated protein 1|Deleted in oral cancer-1|cyclin-dependent kinase 2-associated protein 1|deleted in oral cancer 1|putative oral cancer suppressor

Position

12q24.31

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.243C>T; p.Y81Y; 12:123265233-123265233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.212A>G; p.E71G; 12:123265264-123265264

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.240G>A; p.T80T; 12:123265236-123265236

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.140T>C; p.L47P; 12:123267198-123267198

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.84C>T; p.S28S; 12:123267254-123267254

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.203C>T; p.A68V; 12:123265273-123265273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.327G>A; p.T109T; 12:123261757-123261757

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.77C>T; p.S26F; 12:123267261-123267261

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.190G>A; p.A64T; 12:123265286-123265286

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.153+6T>G; p.?; 12:123267179-123267179

 stomachcarcinoma; adenocarcinomaUnknown

c.291C>T; p.H97H; 12:123261793-123261793

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.98C>T; p.S33L; 12:123267240-123267240

 skinmalignant_melanomaSubstitution - Missense

c.110A>T; p.Q37L; 12:123267228-123267228

 livercarcinomaSubstitution - Missense

c.192G>A; p.A64A; 12:123265284-123265284

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.255G>T; p.K85N; 12:123265221-123265221

 skinmalignant_melanomaSubstitution - Missense

c.134C>T; p.P45L; 12:123267204-123267204

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

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