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

Basic Information

Gene ID

23468

Name

CBX5

Synonymous

chromobox homolog 5;CBX5;chromobox homolog 5

Definition

HP1 alpha homolog|HP1-ALPHA|HP1Hs alpha|antigen p25|chromobox homolog 5 (HP1 alpha homolog, Drosophila)|chromobox protein homolog 5|epididymis luminal protein 25|heterochromatin protein 1 homolog alpha|heterochromatin protein 1-alpha

Position

12q13.13

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 0.40.

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.226G>T; p.G76C; 12:54252139-54252139

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.84G>T; p.R28S; 12:54257567-54257567

 thyroidcarcinomaSubstitution - Missense

c.324+1G>A; p.?; 12:54252040-54252040

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.182A>T; p.E61V; 12:54252183-54252183

 pancreascarcinomaSubstitution - Missense

c.303C>G; p.I101M; 12:54252062-54252062

 breastcarcinomaSubstitution - Missense

c.83G>T; p.R28M; 12:54257568-54257568

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.136G>A; p.E46K; 12:54257515-54257515

 eye; uveal_tractmalignant_melanoma; mixedSubstitution - Missense

c.479G>A; p.C160Y; 12:54241852-54241852

 central_nervous_system; braingliomaSubstitution - Missense

c.409A>G; p.M137V; 12:54246131-54246131

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.114A>C; p.L38L; 12:54257537-54257537

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.454C>T; p.L152F; 12:54241877-54241877

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.164A>C; p.K55T; 12:54252201-54252201

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.555G>T; p.E185D; 12:54241776-54241776

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.317delA; p.K106fs*31; 12:54252048-54252048

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.21G>A; p.R7R; 12:54257630-54257630

 skinmalignant_melanomaSubstitution - coding silent

c.171G>T; p.L57F; 12:54252194-54252194

 ovaryother; neoplasmSubstitution - Missense

c.276C>T; p.S92S; 12:54252089-54252089

 skin; armmalignant_melanomaSubstitution - coding silent

c.122G>A; p.W41*; 12:54257529-54257529

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.34_36delTCT; p.S14delS; 12:54257615-54257617

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.523C>T; p.H175Y; 12:54241808-54241808

 prostatecarcinomaSubstitution - Missense

c.177C>T; p.C59C; 12:54252188-54252188

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.396C>A; p.S132S; 12:54246144-54246144

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.85C>T; p.R29C; 12:54257566-54257566

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.85C>T; p.R29C; 12:54257566-54257566

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.327G>T; p.Q109H; 12:54246213-54246213

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.296A>C; p.D99A; 12:54252069-54252069

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.123G>A; p.W41*; 12:54257528-54257528

 skinmalignant_melanomaSubstitution - Nonsense

c.40_42delTCA; p.S14delS; 12:54257609-54257611

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.4G>A; p.G2R; 12:54257647-54257647

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.275C>A; p.S92Y; 12:54252090-54252090

 skin; armmalignant_melanomaSubstitution - Missense

c.88G>A; p.V30M; 12:54257563-54257563

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.249G>A; p.E83E; 12:54252116-54252116

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.143A>G; p.H48R; 12:54252222-54252222

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.193G>C; p.E65Q; 12:54252172-54252172

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.183G>C; p.E61D; 12:54252182-54252182

 breastcarcinomaSubstitution - Missense

c.463G>T; p.E155*; 12:54241868-54241868

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.463G>T; p.E155*; 12:54241868-54241868

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

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