Entrez Gene

Basic Information
Gene ID	23512
Name	SUZ12
Synonymous	SUZ12 polycomb repressive complex 2 subunit;SUZ12;SUZ12 polycomb repressive complex 2 subunit
Definition	chET 9 protein\|chromatin precipitated E2F target 9 protein\|joined to JAZF1 protein\|polycomb protein SUZ12\|suppressor of zeste 12 homolog\|suppressor of zeste 12 protein homolog
Position	17q11.2
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

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.25.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.824-1G>T; p.?; 17:31976520-31976520	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1078C>T; p.R360C; 17:31988374-31988374	skin; neck	malignant_melanoma	Substitution - Missense
c.1078C>T; p.R360C; 17:31988374-31988374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1295T>G; p.F432C; 17:31993866-31993866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1585C>G; p.L529V; 17:31994711-31994711	breast	carcinoma	Substitution - Missense
c.868G>A; p.D290N; 17:31976565-31976565	skin	malignant_melanoma	Substitution - Missense
c.1950G>T; p.K650N; 17:31998733-31998733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.667A>T; p.K223*; 17:31975557-31975557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2043C>T; p.L681L; 17:31998826-31998826	skin	malignant_melanoma	Substitution - coding silent
c.1552G>A; p.G518R; 17:31994678-31994678	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.546T>C; p.V182V; 17:31973186-31973186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1047T>A; p.F349L; 17:31988343-31988343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.55G>A; p.G19R; 17:31937301-31937301	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1742T>A; p.V581E; 17:31995710-31995710	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.681C>T; p.F227F; 17:31975571-31975571	skin	malignant_melanoma	Substitution - coding silent
c.1129C>T; p.L377F; 17:31988425-31988425	urinary_tract; bladder	carcinoma	Substitution - Missense
c.856C>T; p.R286*; 17:31976553-31976553	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.856C>T; p.R286*; 17:31976553-31976553	central_nervous_system; brain	glioma	Substitution - Nonsense
c.856C>T; p.R286*; 17:31976553-31976553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.974G>A; p.C325Y; 17:31983055-31983055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2013A>G; p.I671M; 17:31998796-31998796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1723C>T; p.R575C; 17:31995691-31995691	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.302G>A; p.R101Q; 17:31940313-31940313	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.992G>A; p.R331K; 17:31983073-31983073	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.992G>A; p.R331K; 17:31983073-31983073	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1794+1G>C; p.?; 17:31995763-31995763	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.1794+1G>C; p.?; 17:31995763-31995763	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.1825G>A; p.G609R; 17:31996828-31996828	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.343_346delCTTA; p.Y117fs*24; 17:31940443-31940446	breast	carcinoma	Deletion - Frameshift
c.343_346delCTTA; p.Y117fs*24; 17:31940443-31940446	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1147G>A; p.E383K; 17:31988443-31988443	breast	carcinoma	Substitution - Missense
c.504T>C; p.N168N; 17:31966195-31966195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.161_163delCCT; p.S59delS; 17:31937407-31937409	skin	malignant_melanoma	Deletion - In frame
c.212T>C; p.V71A; 17:31937458-31937458	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.184G>C; p.A62P; 17:31937430-31937430	ovary	other; neoplasm	Substitution - Missense
c.1801G>C; p.E601Q; 17:31996804-31996804	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2166G>A; p.L722L; 17:31998949-31998949	skin	malignant_melanoma	Substitution - coding silent
c.338G>A; p.R113K; 17:31940438-31940438	breast	carcinoma	Substitution - Missense
c.1284A>G; p.I428M; 17:31993324-31993324	skin; extremity	malignant_melanoma	Substitution - Missense
c.1377delA; p.K459fs*29; 17:31993948-31993948	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - Frameshift
c.1062G>A; p.T354T; 17:31988358-31988358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.698C>T; p.S233F; 17:31975588-31975588	skin	malignant_melanoma	Substitution - Missense
c.1430A>C; p.N477T; 17:31994001-31994001	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.955A>C; p.M319L; 17:31983036-31983036	breast	carcinoma	Substitution - Missense
c.1648G>A; p.E550K; 17:31995616-31995616	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.995C>T; p.A332V; 17:31983076-31983076	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.994G>A; p.A332T; 17:31983075-31983075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.488G>A; p.G163D; 17:31966179-31966179	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.488G>A; p.G163D; 17:31966179-31966179	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2087_2088insA; p.A697fs*7; 17:31998870-31998871	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.488G>A; p.G163D; 17:31966179-31966179	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.301C>T; p.R101*; 17:31940312-31940312	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1875-1G>T; p.?; 17:31998657-31998657	skin	malignant_melanoma	Unknown
c.1038C>T; p.F346F; 17:31988334-31988334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.767G>A; p.R256H; 17:31975657-31975657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2044C>T; p.R682C; 17:31998827-31998827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2073G>A; p.G691G; 17:31998856-31998856	breast	carcinoma	Substitution - coding silent
c.308G>A; p.R103Q; 17:31940319-31940319	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.308G>A; p.R103Q; 17:31940319-31940319	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508C; 17:31994648-31994648	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1013T>A; p.L338H; 17:31983094-31983094	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.426G>T; p.E142D; 17:31947656-31947656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1316G>T; p.R439M; 17:31993887-31993887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1146_1147delAG; p.L385fs*10; 17:31988442-31988443	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.820A>C; p.I274L; 17:31975710-31975710	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.825T>A; p.D275E; 17:31976522-31976522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1764T>G; p.D588E; 17:31995732-31995732	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.372_375delAACA; p.N126fs*15; 17:31940472-31940475	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Deletion - Frameshift
c.1375A>G; p.K459E; 17:31993946-31993946	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2173G>T; p.D725Y; 17:31998956-31998956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.795G>A; p.M265I; 17:31975685-31975685	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1926T>G; p.N642K; 17:31998709-31998709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.920G>A; p.R307H; 17:31983001-31983001	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.285G>C; p.Q95H; 17:31940296-31940296	breast	carcinoma	Substitution - Missense
c.1702A>G; p.S568G; 17:31995670-31995670	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1702A>G; p.S568G; 17:31995670-31995670	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1702A>G; p.S568G; 17:31995670-31995670	large_intestine; colon	carcinoma	Substitution - Missense
c.1702A>G; p.S568G; 17:31995670-31995670	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1814A>T; p.D605V; 17:31996817-31996817	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1090G>T; p.E364*; 17:31988386-31988386	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1039G>A; p.E347K; 17:31988335-31988335	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1692_1704del13; p.Y565fs*13; 17:31995660-31995672	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.646A>C; p.N216H; 17:31975536-31975536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1079G>A; p.R360H; 17:31988375-31988375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1811C>G; p.S604C; 17:31996814-31996814	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1268G>A; p.R423Q; 17:31993308-31993308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1373G>A; p.R458H; 17:31993944-31993944	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1183A>G; p.K395E; 17:31988479-31988479	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.432G>C; p.M144I; 17:31947662-31947662	breast	carcinoma	Substitution - Missense
c.1202-3C>A; p.?; 17:31993239-31993239	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1323A>C; p.Q441H; 17:31993894-31993894	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1738G>T; p.E580*; 17:31995706-31995706	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1886A>T; p.D629V; 17:31998669-31998669	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1261G>A; p.E421K; 17:31993301-31993301	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1993G>T; p.D665Y; 17:31998776-31998776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.480G>A; p.T160T; 17:31966171-31966171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.480G>A; p.T160T; 17:31966171-31966171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.921_922delCT; p.L308fs*8; 17:31983002-31983003	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.619C>T; p.P207S; 17:31975509-31975509	skin	malignant_melanoma	Substitution - Missense
c.1993G>A; p.D665N; 17:31998776-31998776	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.857G>A; p.R286Q; 17:31976554-31976554	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.857G>A; p.R286Q; 17:31976554-31976554	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1105_1106insA; p.S369fs*12; 17:31988401-31988402	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.2148_2154delCTCAAAA; p.N716fs*>22; 17:31998931-31998937	central_nervous_system; brain	glioma	Deletion - Frameshift
c.2148_2154delCTCAAAA; p.N716fs*>22; 17:31998931-31998937	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.1105_1106insA; p.S369fs*12; 17:31988401-31988402	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.1620G>T; p.M540I; 17:31995588-31995588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2098G>T; p.E700*; 17:31998881-31998881	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.153T>G; p.S51R; 17:31937399-31937399	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.283C>A; p.Q95K; 17:31940294-31940294	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.283C>A; p.Q95K; 17:31940294-31940294	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.427A>G; p.K143E; 17:31947657-31947657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412A>G; p.H471R; 17:31993983-31993983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2192C>G; p.S731*; 17:31998975-31998975	breast	carcinoma	Substitution - Nonsense

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]