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

Basic Information

Gene ID

1030

Name

CDKN2B

Synonymous

cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4);CDKN2B;cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)

Definition

CDK inhibitory protein|CDK4B inhibitor|MTS-2|cyclin-dependent kinase 4 inhibitor B|cyclin-dependent kinases 4 and 6 binding protein|multiple tumor suppressor 2|p14-INK4b|p14_CDK inhibitor|p14_INK4B|p15 CDK inhibitor|p15-INK4b|p15_INK4B

Position

9p21

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

Top

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

Top

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

Top

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

Top

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.20G>A; p.G7D; 9:22008934-22008934

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.210G>A; p.A70A; 9:22006194-22006194

 skinmalignant_melanomaSubstitution - coding silent

c.204C>T; p.H68H; 9:22006200-22006200

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.335G>T; p.W112L; 9:22006069-22006069

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.159C>T; p.V53V; 9:22006245-22006245

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.18G>C; p.K6N; 9:22008936-22008936

 pancreasother; pancreatoblastomaSubstitution - Missense

c.227A>C; p.D76A; 9:22006177-22006177

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.181G>A; p.V61M; 9:22006223-22006223

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.225A>C; p.A75A; 9:22006179-22006179

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.118C>T; p.P40S; 9:22008836-22008836

 livercarcinomaSubstitution - Missense

c.118C>T; p.P40S; 9:22008836-22008836

 livercarcinomaSubstitution - Missense

c.179G>A; p.R60H; 9:22006225-22006225

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.82G>C; p.E28Q; 9:22008872-22008872

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.313C>T; p.R105W; 9:22006091-22006091

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.33G>A; p.G11G; 9:22008921-22008921

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.178_236del59; p.R60fs*7; 9:22006168-22006226

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.178C>T; p.R60C; 9:22006226-22006226

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.19G>T; p.G7C; 9:22008935-22008935

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.367C>T; p.R123W; 9:22006037-22006037

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.63C>T; p.A21A; 9:22008891-22008891

 pancreascarcinomaSubstitution - coding silent

c.359C>A; p.A120D; 9:22006045-22006045

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.56C>A; p.A19D; 9:22008898-22008898

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.5G>A; p.R2H; 9:22008949-22008949

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.237T>C; p.T79T; 9:22006167-22006167

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

')