Cancer metastasis database

Annotation category 5

Gene information

Gene ID 23468
Symbol

CBX5

Synonymous

HEL25|HP1|HP1A

Full name

chromobox homolog 5

Gene description

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

Cytoband

12q13.13

Gene type

protein-coding

Synonymous

MIM:604478; HGNC:HGNC:1555; Ensembl:ENSG00000094916; HPRD:05131; Vega:OTTHUMG00000169700

COSMIC somatic mutation

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