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

Basic Information

Gene ID

1026

Name

CDKN1A

Synonymous

cyclin-dependent kinase inhibitor 1A (p21, Cip1);CDKN1A;cyclin-dependent kinase inhibitor 1A (p21, Cip1)

Definition

CDK-interacting protein 1|CDK-interaction protein 1|DNA synthesis inhibitor|cyclin-dependent kinase inhibitor 1|melanoma differentiation associated protein 6|wild-type p53-activated fragment 1

Position

6p21.2

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 0.26.

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.10C>T; p.P4S; 6:36684111-36684111

 skinmalignant_melanomaSubstitution - Missense

c.474C>T; p.I158I; 6:36685779-36685779

 skinmalignant_melanomaSubstitution - coding silent

c.182G>T; p.G61V; 6:36684283-36684283

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.427C>T; p.R143W; 6:36684528-36684528

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.26G>C; p.R9P; 6:36684127-36684127

 thyroidcarcinomaSubstitution - Missense

c.427C>T; p.R143W; 6:36684528-36684528

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.151T>G; p.F51V; 6:36684252-36684252

 livercarcinomaSubstitution - Missense

c.151T>G; p.F51V; 6:36684252-36684252

 livercarcinomaSubstitution - Missense

c.248_260del13; p.R83fs*61; 6:36684349-36684361

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.406G>C; p.D136H; 6:36684507-36684507

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.146G>A; p.W49*; 6:36684247-36684247

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.146G>A; p.W49*; 6:36684247-36684247

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.146G>A; p.W49*; 6:36684247-36684247

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.146G>A; p.W49*; 6:36684247-36684247

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.97G>A; p.D33N; 6:36684198-36684198

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.240G>A; p.T80T; 6:36684341-36684341

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.279G>T; p.R93S; 6:36684380-36684380

 ovaryother; neoplasmSubstitution - Missense

c.394G>T; p.G132C; 6:36684495-36684495

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.205_206insG; p.L71fs*18; 6:36684306-36684307

 livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.293C>G; p.S98*; 6:36684394-36684394

 breastcarcinomaSubstitution - Nonsense

c.464G>A; p.R155H; 6:36685769-36685769

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.412C>G; p.Q138E; 6:36684513-36684513

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.6_7delAG; p.E3fs*32; 6:36684107-36684108

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.192C>T; p.A64A; 6:36684293-36684293

 skinmalignant_melanomaSubstitution - coding silent

c.255C>T; p.G85G; 6:36684356-36684356

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.93C>A; p.S31R; 6:36684194-36684194

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.93C>A; p.S31R; 6:36684194-36684194

 thyroidother; neoplasmSubstitution - Missense

c.283C>T; p.P95S; 6:36684384-36684384

 skinmalignant_melanomaSubstitution - Missense

c.184G>T; p.D62Y; 6:36684285-36684285

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.215G>A; p.G72D; 6:36684316-36684316

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.59G>A; p.R20H; 6:36684160-36684160

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.82G>T; p.E28*; 6:36684183-36684183

 livercarcinomaSubstitution - Nonsense

c.44_60del17; p.S15fs*15; 6:36684145-36684161

 urinary_tract; bladdercarcinomaDeletion - Frameshift

c.48_51delGGCC; p.K16fs*14; 6:36684149-36684152

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.39C>T; p.C13C; 6:36684140-36684140

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.279G>C; p.R93S; 6:36684380-36684380

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.22_25delGTCC; p.Q10fs*20; 6:36684123-36684126

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.256C>T; p.R86W; 6:36684357-36684357

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235C>T; p.P79S; 6:36684336-36684336

 skinmalignant_melanomaSubstitution - Missense

c.259G>A; p.D87N; 6:36684360-36684360

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.211C>A; p.L71I; 6:36684312-36684312

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.259G>A; p.D87N; 6:36684360-36684360

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.246_247CC>TT; p.R83W; 6:36684347-36684348

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.486G>T; p.R162S; 6:36685791-36685791

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.108G>A; p.A36A; 6:36684209-36684209

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.139G>T; p.E47*; 6:36684240-36684240

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.205C>T; p.R69W; 6:36684306-36684306

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.381T>C; p.A127A; 6:36684482-36684482

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.178G>T; p.E60*; 6:36684279-36684279

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.251G>A; p.R84Q; 6:36684352-36684352

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.419G>A; p.R140Q; 6:36684520-36684520

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.418C>T; p.R140*; 6:36684519-36684519

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.115G>A; p.A39T; 6:36684216-36684216

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.142C>T; p.R48*; 6:36684243-36684243

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.142C>T; p.R48*; 6:36684243-36684243

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.337C>A; p.L113M; 6:36684438-36684438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.186_187insT; p.A64fs*25; 6:36684287-36684288

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaInsertion - Frameshift

c.317C>T; p.A106V; 6:36684418-36684418

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.186_187insT; p.A64fs*25; 6:36684287-36684288

 urinary_tract; bladdercarcinomaInsertion - Frameshift

c.85C>T; p.Q29*; 6:36684186-36684186

 livercarcinomaSubstitution - Nonsense

c.56G>A; p.R19H; 6:36684157-36684157

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.56G>A; p.R19H; 6:36684157-36684157

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.85C>T; p.Q29*; 6:36684186-36684186

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.166G>T; p.E56*; 6:36684267-36684267

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

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