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

Basic Information

Gene ID

1021

Name

CDK6

Synonymous

cyclin-dependent kinase 6;CDK6;cyclin-dependent kinase 6

Definition

cell division protein kinase 6|serine/threonine-protein kinase PLSTIRE

Position

7q21-q22

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 0.06.

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.741T>G; p.V247V; 7:92618165-92618165

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.417C>A; p.H139Q; 7:92725746-92725746

 breastcarcinomaSubstitution - Missense

c.460A>T; p.T154S; 7:92725703-92725703

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.883C>T; p.L295L; 7:92615238-92615238

 skinmalignant_melanomaSubstitution - coding silent

c.658C>T; p.R220C; 7:92623076-92623076

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.52G>A; p.E18K; 7:92833272-92833272

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.492C>T; p.F164F; 7:92725671-92725671

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.793T>A; p.F265I; 7:92618113-92618113

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.966G>T; p.E322D; 7:92615155-92615155

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.444A>T; p.P148P; 7:92725719-92725719

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.914G>A; p.R305K; 7:92615207-92615207

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.596C>T; p.P199L; 7:92671477-92671477

 skinmalignant_melanomaSubstitution - Missense

c.596C>T; p.P199L; 7:92671477-92671477

 skinmalignant_melanomaSubstitution - Missense

c.596C>T; p.P199L; 7:92671477-92671477

 skinmalignant_melanomaSubstitution - Missense

c.352C>T; p.P118S; 7:92774713-92774713

 breastcarcinomaSubstitution - Missense

c.969G>A; p.L323L; 7:92615152-92615152

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.969G>A; p.L323L; 7:92615152-92615152

 breastcarcinomaSubstitution - coding silent

c.417C>T; p.H139H; 7:92725746-92725746

 skinmalignant_melanomaSubstitution - coding silent

c.540C>T; p.V180V; 7:92671533-92671533

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.138G>A; p.R46R; 7:92833186-92833186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.576C>G; p.L192L; 7:92671497-92671497

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.641G>A; p.R214H; 7:92671432-92671432

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.748C>T; p.P250S; 7:92618158-92618158

 skinmalignant_melanomaSubstitution - Missense

c.511A>G; p.S171G; 7:92725652-92725652

 pancreascarcinomaSubstitution - Missense

c.270A>T; p.R90S; 7:92774795-92774795

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.672T>C; p.D224D; 7:92623062-92623062

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.250A>T; p.T84S; 7:92774815-92774815

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.652C>A; p.L218I; 7:92623082-92623082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.431G>A; p.R144H; 7:92725732-92725732

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144H; 7:92725732-92725732

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.749C>T; p.P250L; 7:92618157-92618157

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.929T>C; p.L310P; 7:92615192-92615192

 skinmalignant_melanomaSubstitution - Missense

c.337C>A; p.P113T; 7:92774728-92774728

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.473A>T; p.Q158L; 7:92725690-92725690

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.658C>A; p.R220S; 7:92623076-92623076

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.588C>T; p.Y196Y; 7:92671485-92671485

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.260G>A; p.R87Q; 7:92774805-92774805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.588C>T; p.Y196Y; 7:92671485-92671485

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.260G>A; p.R87Q; 7:92774805-92774805

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.981+3C>T; p.?; 7:92615137-92615137

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.183G>A; p.E61E; 7:92833141-92833141

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.945G>A; p.P315P; 7:92615176-92615176

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.53A>T; p.E18V; 7:92833271-92833271

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.469G>T; p.G157*; 7:92725694-92725694

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.807C>T; p.I269I; 7:92618099-92618099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.807C>T; p.I269I; 7:92618099-92618099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.22C>T; p.R8C; 7:92833302-92833302

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.195G>A; p.L65L; 7:92833129-92833129

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.700G>A; p.V234M; 7:92618206-92618206

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.826C>T; p.L276L; 7:92618080-92618080

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.608_609GG>CT; p.W203S; 7:92671464-92671465

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.620G>T; p.C207F; 7:92671453-92671453

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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