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

Basic Information

Gene ID

1031

Name

CDKN2C

Synonymous

cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4);CDKN2C;cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)

Definition

CDK6 inhibitor p18|cyclin-dependent inhibitor|cyclin-dependent kinase 4 inhibitor C|cyclin-dependent kinase 6 inhibitor p18|p18-INK6

Position

1p32

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 0.20.

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.295G>A; p.E99K; 1:50974058-50974058

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503A>G; p.Q168R; 1:50974266-50974266

 skinmalignant_melanomaSubstitution - Missense

c.103A>G; p.N35D; 1:50970471-50970471

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.D67N; 1:50973962-50973962

 thyroidcarcinomaSubstitution - Missense

c.116G>C; p.R39T; 1:50970484-50970484

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.196A>G; p.K66E; 1:50973959-50973959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.326T>C; p.L109S; 1:50974089-50974089

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3delG; p.A2fs*17; 1:50970371-50970371

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIIDeletion - Frameshift

c.202C>T; p.R68*; 1:50973965-50973965

 prostatecarcinomaSubstitution - Nonsense

c.178_182delGGTGC; p.G60fs*1; 1:50973941-50973945

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.283G>C; p.D95H; 1:50974046-50974046

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.407_408insG; p.D138fs*5; 1:50974170-50974171

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.43A>T; p.R15W; 1:50970411-50970411

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.341_342insC; p.H115fs*22; 1:50974104-50974105

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.438C>T; p.L146L; 1:50974201-50974201

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.55G>T; p.E19*; 1:50970423-50970423

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.43A>C; p.R15R; 1:50970411-50970411

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.321G>C; p.L107F; 1:50974084-50974084

 kidneyother; neoplasmSubstitution - Missense

c.64A>C; p.T22P; 1:50970432-50970432

 pancreascarcinomaSubstitution - Missense

c.43delA; p.R15fs*4; 1:50970411-50970411

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.425A>C; p.D142A; 1:50974188-50974188

 kidneyother; neoplasmSubstitution - Missense

c.230C>T; p.A77V; 1:50973993-50973993

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.323A>G; p.H108R; 1:50974086-50974086

 central_nervous_system; braingliomaSubstitution - Missense

c.122C>G; p.A41G; 1:50970490-50970490

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.130-1G>C; p.?; 1:50973892-50973892

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.3G>A; p.M1I; 1:50970371-50970371

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.122C>T; p.A41V; 1:50970490-50970490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.190G>A; p.D64N; 1:50973953-50973953

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.129G>T; p.Q43H; 1:50970497-50970497

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.328G>A; p.A110T; 1:50974091-50974091

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.485G>C; p.G162A; 1:50974248-50974248

 livercarcinomaSubstitution - Missense

c.2T>A; p.M1K; 1:50970370-50970370

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIISubstitution - Missense

c.489A>G; p.G163G; 1:50974252-50974252

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.324C>G; p.H108Q; 1:50974087-50974087

 bone; humeruschondrosarcomaSubstitution - Missense

c.182C>T; p.A61V; 1:50973945-50973945

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.267G>A; p.L89L; 1:50974030-50974030

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.438C>A; p.L146L; 1:50974201-50974201

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.214G>A; p.A72T; 1:50973977-50973977

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.214G>A; p.A72T; 1:50973977-50973977

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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