| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 23512 |
Name | SUZ12 |
Synonymous | CHET9|JJAZ1;suppressor of zeste 12 homolog (Drosophila);SUZ12;suppressor of zeste 12 homolog (Drosophila) |
Definition | chET 9 protein|chromatin precipitated E2F target 9 protein|joined to JAZF1 protein|polycomb protein SUZ12|suppressor of zeste 12 protein homolog |
Position | 17q11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SUZ12 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
SUZ12_S369fs; chr17; 30315420 |
IFRAMESHIFT; -; -/A; SOMATIC | T-ALL; VALID; WGS |
SUZ12_L564_S568fs; chr17; 30322679 |
DEL; FRAMESHIFT; GTATTTCCATAGT; GTATTTCCATAGT/-; SOMATIC | T-ALL; VALID; |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.161_163delCCT; p.S59delS; |
NS | malignant_melanoma |
c.767G>A; p.R256H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1078C>T; p.R360C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1926T>G; p.N642K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.488G>A; p.G163D; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1702A>G; p.S568G; |
large_intestine; colon | carcinoma |
c.2148_2154delCTCAAAA; p.N716fs*>22; |
lung | carcinoma; large_cell_carcinoma |
c.488G>A; p.G163D; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1794+1G>C; p.?; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1284A>G; p.I428M; |
skin; extremity | malignant_melanoma |
c.2192C>G; p.S731*; |
breast | carcinoma |
c.338G>A; p.R113K; |
breast | carcinoma |
c.1105_1106insA; p.S369fs*12; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1742T>A; p.V581E; |
ovary | carcinoma; serous_carcinoma |
c.1373G>A; p.R458H; |
lung | carcinoma; squamous_cell_carcinoma |
c.995C>T; p.A332V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1090G>T; p.E364*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1375A>G; p.K459E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1147G>A; p.E383K; |
breast | carcinoma |
c.285G>C; p.Q95H; |
breast | carcinoma |
c.1323A>C; p.Q441H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.308G>A; p.R103Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.308G>A; p.R103Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.921_922delCT; p.L308fs*8; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.488G>A; p.G163D; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1412A>G; p.H471R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.920G>A; p.R307H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1316G>T; p.R439M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.504T>C; p.N168N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1038C>T; p.F346F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.646A>C; p.N216H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1062G>A; p.T354T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2013A>G; p.I671M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.974G>A; p.C325Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.301C>T; p.R101*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.856C>T; p.R286*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.667A>T; p.K223*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.302G>A; p.R101Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.480G>A; p.T160T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.426G>T; p.E142D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.546T>C; p.V182V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1295T>G; p.F432C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2173G>T; p.D725Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2044C>T; p.R682C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1801G>C; p.E601Q; |
urinary_tract; bladder | carcinoma |
c.1950G>T; p.K650N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1430A>C; p.N477T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1013T>A; p.L338H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.343_346delCTTA; p.Y117fs*24; |
endometrium | carcinoma; endometrioid_carcinoma |
c.480G>A; p.T160T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1993G>T; p.D665Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1585C>G; p.L529V; |
breast | carcinoma |
c.795G>A; p.M265I; |
urinary_tract; bladder | carcinoma |
c.1129C>T; p.L377F; |
urinary_tract; bladder | carcinoma |
c.343_346delCTTA; p.Y117fs*24; |
breast | carcinoma |
c.427A>G; p.K143E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1811C>G; p.S604C; |
urinary_tract; bladder | carcinoma |
c.2148_2154delCTCAAAA; p.N716fs*>22; |
central_nervous_system; brain | glioma |
c.1078C>T; p.R360C; |
skin; neck | malignant_melanoma |
c.1620G>T; p.M540I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1764T>G; p.D588E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |