Entrez Gene

Basic Information
Gene ID	8535
Name	CBX4
Synonymous	chromobox homolog 4;CBX4;chromobox homolog 4
Definition	E3 SUMO-protein ligase CBX4\|NS5ATP1-binding protein 16\|Pc class 2 homolog\|chromobox homolog 4 (Pc class homolog, Drosophila)\|chromobox protein homolog 4\|polycomb 2 homolog
Position	17q25.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1671C>A; p.Y557*; 17:79833971-79833971	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1671C>A; p.Y557*; 17:79833971-79833971	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1421A>G; p.D474G; 17:79834221-79834221	skin	malignant_melanoma	Substitution - Missense
c.1497G>T; p.A499A; 17:79834145-79834145	pancreas	carcinoma	Substitution - coding silent
c.220C>T; p.P74S; 17:79835672-79835672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>A; p.E61K; 17:79835711-79835711	urinary_tract; bladder	carcinoma	Substitution - Missense
c.559G>T; p.D187Y; 17:79835083-79835083	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.657T>G; p.G219G; 17:79834985-79834985	liver	carcinoma	Substitution - coding silent
c.657T>G; p.G219G; 17:79834985-79834985	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.689C>T; p.P230L; 17:79834953-79834953	skin	malignant_melanoma	Substitution - Missense
c.908A>C; p.H303P; 17:79834734-79834734	urinary_tract; bladder	carcinoma	Substitution - Missense
c.342G>A; p.K114K; 17:79835300-79835300	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1371C>T; p.L457L; 17:79834271-79834271	skin	malignant_melanoma	Substitution - coding silent
c.1555C>G; p.P519A; 17:79834087-79834087	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1269C>G; p.P423P; 17:79834373-79834373	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.447G>C; p.K149N; 17:79835195-79835195	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.873C>T; p.S291S; 17:79834769-79834769	skin	malignant_melanoma	Substitution - coding silent
c.916G>A; p.A306T; 17:79834726-79834726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1604C>T; p.P535L; 17:79834038-79834038	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.792C>T; p.I264I; 17:79834850-79834850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1374G>C; p.P458P; 17:79834268-79834268	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1020C>T; p.P340P; 17:79834622-79834622	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.694G>A; p.G232R; 17:79834948-79834948	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1512G>A; p.A504A; 17:79834130-79834130	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1289C>T; p.A430V; 17:79834353-79834353	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1163C>G; p.P388R; 17:79834479-79834479	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1514T>C; p.V505A; 17:79834128-79834128	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.1514T>C; p.V505A; 17:79834128-79834128	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1514T>C; p.V505A; 17:79834128-79834128	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1514T>C; p.V505A; 17:79834128-79834128	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.685C>A; p.P229T; 17:79834957-79834957	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1514T>C; p.V505A; 17:79834128-79834128	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.690delC; p.N231fs*3; 17:79834952-79834952	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.690delC; p.N231fs*3; 17:79834952-79834952	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.690delC; p.N231fs*3; 17:79834952-79834952	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.690delC; p.N231fs*3; 17:79834952-79834952	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1548G>A; p.E516E; 17:79834094-79834094	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.707C>T; p.A236V; 17:79834935-79834935	kidney	other; neoplasm	Substitution - Missense
c.366C>G; p.L122L; 17:79835276-79835276	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1502C>T; p.A501V; 17:79834140-79834140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.691A>C; p.N231H; 17:79834951-79834951	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1456G>T; p.E486*; 17:79834186-79834186	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1439C>T; p.T480M; 17:79834203-79834203	pancreas	carcinoma	Substitution - Missense
c.970C>T; p.P324S; 17:79834672-79834672	skin; abdomen	malignant_melanoma	Substitution - Missense
c.657_669del13; p.G222fs*8; 17:79834973-79834985	skin	malignant_melanoma	Deletion - Frameshift
c.198G>T; p.L66L; 17:79835694-79835694	breast	carcinoma	Substitution - coding silent
c.1523_1524insGGCGGC; p.A510_P511insAA; 17:79834118-79834119	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.1511C>T; p.A504V; 17:79834131-79834131	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1219_1220delTC; p.S407fs*39; 17:79834422-79834423	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.530A>G; p.H177R; 17:79835112-79835112	breast	carcinoma	Substitution - Missense
c.822G>A; p.M274I; 17:79834820-79834820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1587G>T; p.S529S; 17:79834055-79834055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.956_957AG>TC; p.K319I; 17:79834685-79834686	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.816C>T; p.N272N; 17:79834826-79834826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.874C>T; p.P292S; 17:79834768-79834768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1587G>A; p.S529S; 17:79834055-79834055	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.127G>T; p.E43*; 17:79837889-79837889	skin	malignant_melanoma	Substitution - Nonsense
c.971C>T; p.P324L; 17:79834671-79834671	skin; abdomen	malignant_melanoma	Substitution - Missense
c.1158G>A; p.P386P; 17:79834484-79834484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.583C>G; p.P195A; 17:79835059-79835059	urinary_tract; bladder	carcinoma	Substitution - Missense
c.759C>G; p.V253V; 17:79834883-79834883	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.637C>T; p.P213S; 17:79835005-79835005	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.480C>T; p.H160H; 17:79835162-79835162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.733G>A; p.G245R; 17:79834909-79834909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.480C>T; p.H160H; 17:79835162-79835162	thyroid	other; neoplasm	Substitution - coding silent
c.1560C>A; p.A520A; 17:79834082-79834082	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.555C>T; p.C185C; 17:79835087-79835087	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.438G>A; p.K146K; 17:79835204-79835204	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.842C>G; p.S281C; 17:79834800-79834800	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.690_691insC; p.N231fs*81; 17:79834951-79834952	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1499C>T; p.S500L; 17:79834143-79834143	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.108G>T; p.S36S; 17:79839016-79839016	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1630G>A; p.D544N; 17:79834012-79834012	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.212_213delAG; p.G73fs*29; 17:79835679-79835680	prostate	carcinoma	Deletion - Frameshift
c.900C>T; p.D300D; 17:79834742-79834742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.890G>A; p.R297Q; 17:79834752-79834752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.670G>A; p.G224S; 17:79834972-79834972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.507C>T; p.Y169Y; 17:79835135-79835135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.670G>A; p.G224S; 17:79834972-79834972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.670G>A; p.G224S; 17:79834972-79834972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.670G>A; p.G224S; 17:79834972-79834972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.670G>A; p.G224S; 17:79834972-79834972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.670G>A; p.G224S; 17:79834972-79834972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1520C>T; p.A507V; 17:79834122-79834122	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.410G>A; p.R137Q; 17:79835232-79835232	breast	carcinoma	Substitution - Missense
c.1470C>T; p.S490S; 17:79834172-79834172	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1561G>A; p.E521K; 17:79834081-79834081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1452delC; p.E486fs*8; 17:79834190-79834190	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1456G>A; p.E486K; 17:79834186-79834186	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1437G>A; p.K479K; 17:79834205-79834205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.842C>T; p.S281F; 17:79834800-79834800	skin	malignant_melanoma	Substitution - Missense
c.712A>C; p.K238Q; 17:79834930-79834930	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712A>C; p.K238Q; 17:79834930-79834930	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712A>C; p.K238Q; 17:79834930-79834930	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712A>C; p.K238Q; 17:79834930-79834930	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712A>C; p.K238Q; 17:79834930-79834930	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.630G>A; p.A210A; 17:79835012-79835012	breast	carcinoma	Substitution - coding silent
c.1298T>C; p.I433T; 17:79834344-79834344	ovary	other; neoplasm	Substitution - Missense
c.656_657insGGG; p.G219_A220insG; 17:79834985-79834986	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - In frame
c.191A>G; p.E64G; 17:79835701-79835701	breast	carcinoma	Substitution - Missense
c.847G>T; p.E283*; 17:79834795-79834795	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.457C>G; p.Q153E; 17:79835185-79835185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.970_971CC>TT; p.P324L; 17:79834671-79834672	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.706G>A; p.A236T; 17:79834936-79834936	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1167_1168insCAC; p.H400_A401insH; 17:79834474-79834475	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.1008C>G; p.S336R; 17:79834634-79834634	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.634A>G; p.K212E; 17:79835008-79835008	prostate	carcinoma	Substitution - Missense
c.1455G>A; p.G485G; 17:79834187-79834187	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.333G>A; p.A111A; 17:79835309-79835309	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	thyroid	other; neoplasm	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871T>C; p.S291P; 17:79834771-79834771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646G>A; p.C549Y; 17:79833996-79833996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1198_1200delCAC; p.H400delH; 17:79834442-79834444	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1198_1200delCAC; p.H400delH; 17:79834442-79834444	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1198_1200delCAC; p.H400delH; 17:79834442-79834444	NS	malignant_melanoma	Deletion - In frame
c.1198_1200delCAC; p.H400delH; 17:79834442-79834444	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1198_1200delCAC; p.H400delH; 17:79834442-79834444	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1198_1200delCAC; p.H400delH; 17:79834442-79834444	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1524A>G; p.A508A; 17:79834118-79834118	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]