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

Basic Information

Gene ID

1017

Name

CDK2

Synonymous

cyclin-dependent kinase 2;CDK2;cyclin-dependent kinase 2

Definition

cdc2-related protein kinase|cell division protein kinase 2|p33 protein kinase

Position

12q13

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 0.05.

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.889C>A; p.R297R; 12:55971617-55971617

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.373C>T; p.H125Y; 12:55968835-55968835

 skin; legmalignant_melanomaSubstitution - Missense

c.373C>T; p.H125Y; 12:55968835-55968835

 skin; legmalignant_melanomaSubstitution - Missense

c.266A>C; p.K89T; 12:55968120-55968120

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367G>A; p.V123I; 12:55968829-55968829

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.779G>A; p.R260Q; 12:55971234-55971234

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.758C>T; p.P253L; 12:55971213-55971213

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.610C>A; p.P204T; 12:55971065-55971065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.339G>T; p.Q113H; 12:55968801-55968801

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.234delG; p.V79fs*37; 12:55968088-55968088

 breastcarcinomaDeletion - Frameshift

c.448A>G; p.R150G; 12:55968910-55968910

 pancreascarcinomaSubstitution - Missense

c.353G>T; p.C118F; 12:55968815-55968815

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.523C>A; p.L175M; 12:55969511-55969511

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.361C>T; p.H121Y; 12:55968823-55968823

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.38G>A; p.G13D; 12:55967046-55967046

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.734G>A; p.R245Q; 12:55971189-55971189

 stomachcarcinomaSubstitution - Missense

c.846T>C; p.A282A; 12:55971574-55971574

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.37G>T; p.G13C; 12:55967045-55967045

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.519C>A; p.I173I; 12:55969507-55969507

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.364C>G; p.R122G; 12:55968826-55968826

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.733C>T; p.R245W; 12:55971188-55971188

 pancreascarcinomaSubstitution - Missense

c.371T>C; p.L124P; 12:55968833-55968833

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.135C>T; p.P45P; 12:55967875-55967875

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.845C>A; p.A282D; 12:55971573-55971573

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.365G>T; p.R122L; 12:55968827-55968827

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.134C>T; p.P45L; 12:55967874-55967874

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.134C>T; p.P45L; 12:55967874-55967874

 central_nervous_system; braingliomaSubstitution - Missense

c.134C>T; p.P45L; 12:55967874-55967874

 central_nervous_system; braingliomaSubstitution - Missense

c.134C>T; p.P45L; 12:55967874-55967874

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37G>A; p.G13S; 12:55967045-55967045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37G>A; p.G13S; 12:55967045-55967045

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.609_610CC>TT; p.P204S; 12:55971064-55971065

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.552G>A; p.V184V; 12:55969540-55969540

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.552G>A; p.V184V; 12:55969540-55969540

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.58A>G; p.K20E; 12:55967066-55967066

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.327C>G; p.F109L; 12:55968789-55968789

 breastcarcinomaSubstitution - Missense

c.339G>A; p.Q113Q; 12:55968801-55968801

 livercarcinomaSubstitution - coding silent

c.339G>A; p.Q113Q; 12:55968801-55968801

 livercarcinomaSubstitution - coding silent

c.298C>T; p.P100S; 12:55968152-55968152

 NSmalignant_melanomaSubstitution - Missense

c.101A>C; p.K34T; 12:55967109-55967109

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.598C>T; p.R200W; 12:55971053-55971053

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6G>T; p.E2D; 12:55967014-55967014

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.202G>A; p.D68N; 12:55968056-55968056

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.721C>T; p.P241S; 12:55971176-55971176

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.490G>T; p.V164L; 12:55969478-55969478

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.250C>T; p.H84Y; 12:55968104-55968104

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.720C>T; p.F240F; 12:55971175-55971175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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