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

Basic Information

Gene ID

1027

Name

CDKN1B

Synonymous

cyclin-dependent kinase inhibitor 1B (p27, Kip1);CDKN1B;cyclin-dependent kinase inhibitor 1B (p27, Kip1)

Definition

cyclin-dependent kinase inhibitor 1B

Position

12p13.1-p12

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

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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 0.71.

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.215G>A; p.G72D; 12:12718054-12718054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.184_186delTTC; p.F62delF; 12:12718023-12718025

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.212_213insG; p.K73fs*52; 12:12718051-12718052

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.212_213insG; p.K73fs*52; 12:12718051-12718052

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.162_163insGC; p.S56fs*16; 12:12718001-12718002

 breastcarcinomaInsertion - Frameshift

c.511G>T; p.E171*; 12:12718860-12718860

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.335_357del23; p.S112fs*5; 12:12718174-12718196

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.511G>T; p.E171*; 12:12718860-12718860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.189T>G; p.D63E; 12:12718028-12718028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.476-7C>T; p.?; 12:12718818-12718818

 biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.222C>G; p.Y74*; 12:12718061-12718061

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.319C>T; p.Q107*; 12:12718158-12718158

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.304delC; p.P102fs*17; 12:12718143-12718143

 prostatecarcinomaDeletion - Frameshift

c.233_234insGG; p.V79fs*41; 12:12718072-12718073

 breastcarcinomaInsertion - Frameshift

c.105delG; p.V36fs*6; 12:12717944-12717944

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.358delG; p.A121fs*24; 12:12718197-12718197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.550G>A; p.V184M; 12:12718899-12718899

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.216C>T; p.G72G; 12:12718055-12718055

 prostatecarcinomaSubstitution - coding silent

c.20C>G; p.S7C; 12:12717859-12717859

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.315G>A; p.E105E; 12:12718154-12718154

 livercarcinomaSubstitution - coding silent

c.315G>A; p.E105E; 12:12718154-12718154

 livercarcinomaSubstitution - coding silent

c.476-2A>C; p.?; 12:12718823-12718823

 central_nervous_system; braingliomaUnknown

c.476-2A>C; p.?; 12:12718823-12718823

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.409delC; p.P137fs*8; 12:12718248-12718248

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.280delC; p.G97fs*22; 12:12718119-12718119

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.115G>C; p.E39Q; 12:12717954-12717954

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.64G>T; p.E22*; 12:12717903-12717903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.279_280insC; p.K96fs*29; 12:12718118-12718119

 livercarcinomaInsertion - Frameshift

c.455delG; p.K153fs*>46; 12:12718294-12718294

 prostatecarcinomaDeletion - Frameshift

c.156G>T; p.M52I; 12:12717995-12717995

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.80_83delCGGC; p.C29fs*12; 12:12717919-12717922

 breastcarcinomaDeletion - Frameshift

c.270_271insC; p.R93fs*32; 12:12718109-12718110

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.407A>G; p.D136G; 12:12718246-12718246

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.211G>A; p.E71K; 12:12718050-12718050

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.326T>G; p.V109G; 12:12718165-12718165

 thyroidother; neoplasmSubstitution - Missense

c.320A>G; p.Q107R; 12:12718159-12718159

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.104C>T; p.P35L; 12:12717943-12717943

 skinmalignant_melanomaSubstitution - Missense

c.471C>T; p.T157T; 12:12718310-12718310

 breastcarcinomaSubstitution - coding silent

c.514G>T; p.E172*; 12:12718863-12718863

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.514G>T; p.E172*; 12:12718863-12718863

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5C>T; p.S2L; 12:12717844-12717844

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.5C>T; p.S2L; 12:12717844-12717844

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.237delG; p.E80fs*39; 12:12718076-12718076

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.51C>A; p.D17E; 12:12717890-12717890

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.80C>A; p.S27*; 12:12717919-12717919

 breastcarcinomaSubstitution - Nonsense

c.80C>A; p.S27*; 12:12717919-12717919

 breastcarcinomaSubstitution - Nonsense

c.206C>T; p.P69L; 12:12718045-12718045

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.487C>T; p.Q163*; 12:12718836-12718836

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.306G>T; p.P102P; 12:12718145-12718145

 livercarcinomaSubstitution - coding silent

c.306G>T; p.P102P; 12:12718145-12718145

 livercarcinomaSubstitution - coding silent

c.419_420insC; p.Q141fs*>59; 12:12718258-12718259

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.545G>A; p.G182D; 12:12718894-12718894

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.285_286insC; p.K96fs*29; 12:12718124-12718125

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeInsertion - Frameshift

c.127_128delCG; p.R43fs*81; 12:12717966-12717967

 breastcarcinomaDeletion - Frameshift

c.374_375insC; p.E126fs*1; 12:12718213-12718214

 breastcarcinomaInsertion - Frameshift

c.304C>A; p.P102T; 12:12718143-12718143

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.368_371delCTAA; p.N124fs*20; 12:12718207-12718210

 central_nervous_system; frontal_lobeglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.109_110insAC; p.H38fs*5; 12:12717948-12717949

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.506G>A; p.R169K; 12:12718855-12718855

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.506G>A; p.R169K; 12:12718855-12718855

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.286_287ins11; p.Q104fs*19; 12:12718125-12718126

 livercarcinomaInsertion - Frameshift

c.485C>T; p.T162I; 12:12718834-12718834

 pancreascarcinomaSubstitution - Missense

c.482C>G; p.S161C; 12:12718831-12718831

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.207C>T; p.P69P; 12:12718046-12718046

 skinmalignant_melanomaSubstitution - coding silent

c.572C>A; p.P191H; 12:12718921-12718921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.449G>A; p.G150E; 12:12718288-12718288

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.475+1G>A; p.?; 12:12718315-12718315

 livercarcinoma; hepatocellular_carcinomaUnknown

c.365C>T; p.P122L; 12:12718204-12718204

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.94C>T; p.L32F; 12:12717933-12717933

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.505delA; p.R169fs*>30; 12:12718854-12718854

 prostatecarcinomaDeletion - Frameshift

c.402delG; p.T135fs*10; 12:12718241-12718241

 breastcarcinomaDeletion - Frameshift

c.313G>T; p.E105*; 12:12718152-12718152

 breastcarcinomaSubstitution - Nonsense

c.118G>A; p.E40K; 12:12717957-12717957

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.476-5C>T; p.?; 12:12718820-12718820

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.373_374insC; p.E126fs*1; 12:12718212-12718213

 breastcarcinomaInsertion - Frameshift

c.137A>G; p.E46G; 12:12717976-12717976

 prostatecarcinomaSubstitution - Missense

c.124A>G; p.T42A; 12:12717963-12717963

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.130G>A; p.D44N; 12:12717969-12717969

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.118G>T; p.E40*; 12:12717957-12717957

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.168C>T; p.S56S; 12:12718007-12718007

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.128delG; p.D44fs*27; 12:12717967-12717967

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.227G>A; p.W76*; 12:12718066-12718066

 livercarcinomaSubstitution - Nonsense

c.269G>A; p.R90K; 12:12718108-12718108

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.179G>A; p.W60*; 12:12718018-12718018

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.232G>A; p.E78K; 12:12718071-12718071

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.193C>T; p.Q65*; 12:12718032-12718032

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.124A>T; p.T42S; 12:12717963-12717963

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

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