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

Basic Information

Gene ID

23582

Name

CCNDBP1

Synonymous

cyclin D-type binding-protein 1;CCNDBP1;cyclin D-type binding-protein 1

Definition

D-type cyclin-interacting protein 1|cyclin-D1-binding protein 1|grap2 and cyclin-D-interacting protein|human homolog of Maid

Position

15q14-q15

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 0.07.

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.975T>A; p.S325R; 15:43194733-43194733

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.777G>A; p.R259R; 15:43191592-43191592

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.356G>A; p.R119Q; 15:43190079-43190079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.615G>T; p.L205F; 15:43191430-43191430

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.655G>T; p.E219*; 15:43191470-43191470

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.375C>T; p.I125I; 15:43190098-43190098

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.608G>A; p.G203D; 15:43191423-43191423

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.200C>A; p.A67D; 15:43186184-43186184

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.200C>A; p.A67D; 15:43186184-43186184

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.473C>T; p.A158V; 15:43190369-43190369

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.430C>A; p.P144T; 15:43190326-43190326

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.868G>T; p.D290Y; 15:43192750-43192750

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.925G>C; p.A309P; 15:43194418-43194418

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.431C>T; p.P144L; 15:43190327-43190327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.798G>A; p.G266G; 15:43191613-43191613

 skinmalignant_melanomaSubstitution - coding silent

c.146G>C; p.R49P; 15:43185856-43185856

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.146G>C; p.R49P; 15:43185856-43185856

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.914G>A; p.R305Q; 15:43192796-43192796

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.914G>A; p.R305Q; 15:43192796-43192796

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.914G>A; p.R305Q; 15:43192796-43192796

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.748G>A; p.A250T; 15:43191563-43191563

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.360C>T; p.G120G; 15:43190083-43190083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.208C>G; p.L70V; 15:43186192-43186192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.T68T; 15:43186188-43186188

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.553A>G; p.K185E; 15:43191016-43191016

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.958G>A; p.E320K; 15:43194451-43194451

 breastcarcinomaSubstitution - Missense

c.353T>C; p.V118A; 15:43190076-43190076

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.353T>C; p.V118A; 15:43190076-43190076

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.727C>T; p.P243S; 15:43191542-43191542

 skinmalignant_melanomaSubstitution - Missense

c.909C>T; p.T303T; 15:43192791-43192791

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.904C>T; p.L302L; 15:43192786-43192786

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.958G>C; p.E320Q; 15:43194451-43194451

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.34C>T; p.P12S; 15:43185532-43185532

 skinmalignant_melanomaSubstitution - Missense

c.951G>A; p.K317K; 15:43194444-43194444

 pancreascarcinomaSubstitution - coding silent

c.861-1G>C; p.?; 15:43192742-43192742

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.718C>A; p.L240I; 15:43191533-43191533

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.180T>A; p.A60A; 15:43186164-43186164

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.719T>G; p.L240R; 15:43191534-43191534

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.150G>A; p.E50E; 15:43185860-43185860

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.145C>G; p.R49G; 15:43185855-43185855

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.343A>C; p.R115R; 15:43190066-43190066

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.775C>T; p.R259W; 15:43191590-43191590

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.775C>T; p.R259W; 15:43191590-43191590

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.944T>C; p.L315S; 15:43194437-43194437

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.756A>C; p.K252N; 15:43191571-43191571

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

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