Entrez Gene

Basic Information
Gene ID	5371
Name	PML
Synonymous	promyelocytic leukemia;PML;promyelocytic leukemia
Definition	RING finger protein 71\|probable transcription factor PML\|promyelocytic leukemia protein\|promyelocytic leukemia, inducer of\|protein PML\|tripartite motif protein TRIM19\|tripartite motif-containing protein 19
Position	15q22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.772C>A; p.H258N; 15:74022997-74022997	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.564C>A; p.F188L; 15:73998438-73998438	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.506T>C; p.L169P; 15:73998380-73998380	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.841G>T; p.E281*; 15:74023066-74023066	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.1257C>T; p.P419P; 15:74032574-74032574	breast	carcinoma	Substitution - coding silent
c.1228C>G; p.P410A; 15:74024901-74024901	breast	carcinoma	Substitution - Missense
c.1A>G; p.M1V; 15:73994813-73994813	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.758C>A; p.A253D; 15:74022983-74022983	central_nervous_system; brain	glioma	Substitution - Missense
c.318C>T; p.N106N; 15:73998192-73998192	central_nervous_system; brain	glioma	Substitution - coding silent
c.509G>A; p.R170H; 15:73998383-73998383	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.819C>T; p.A273A; 15:74023044-74023044	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.819C>T; p.A273A; 15:74023044-74023044	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1655C>T; p.A552V; 15:74033412-74033412	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.895G>C; p.E299Q; 15:74023120-74023120	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1702G>A; p.E568K; 15:74034522-74034522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1474G>T; p.E492*; 15:74033231-74033231	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.984G>A; p.T328T; 15:74023209-74023209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1503G>T; p.L501F; 15:74033260-74033260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.462A>G; p.A154A; 15:73998336-73998336	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2460_2462delGAA; p.K822delK; 15:74044819-74044821	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1354G>A; p.V452M; 15:74032671-74032671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1259A>T; p.E420V; 15:74032576-74032576	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1259A>T; p.E420V; 15:74032576-74032576	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1259A>T; p.E420V; 15:74032576-74032576	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1259A>T; p.E420V; 15:74032576-74032576	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1986C>G; p.F662L; 15:74044345-74044345	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.351G>A; p.S117S; 15:73998225-73998225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.351G>A; p.S117S; 15:73998225-73998225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.351G>A; p.S117S; 15:73998225-73998225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.883C>T; p.R295C; 15:74023108-74023108	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.265C>A; p.P89T; 15:73998139-73998139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1933T>C; p.F645L; 15:74044292-74044292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.201G>A; p.P67P; 15:73998075-73998075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.783G>A; p.M261I; 15:74023008-74023008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2499G>A; p.T833T; 15:74044858-74044858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078C>T; p.R360C; 15:74023303-74023303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1669_1671delGTG; p.V558delV; 15:74034489-74034491	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.809G>A; p.R270H; 15:74023034-74023034	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.998T>C; p.V333A; 15:74023223-74023223	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.850C>T; p.R284C; 15:74023075-74023075	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1665C>T; p.R555R; 15:74034485-74034485	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2097A>T; p.E699D; 15:74044456-74044456	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1617G>T; p.L539L; 15:74033374-74033374	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.776C>T; p.A259V; 15:74023001-74023001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.73delC; p.E27fs*71; 15:73994885-73994885	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.509G>A; p.R170H; 15:73998383-73998383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.73delC; p.E27fs*71; 15:73994885-73994885	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.793G>A; p.V265I; 15:74023018-74023018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2131C>A; p.L711M; 15:74044490-74044490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2131C>A; p.L711M; 15:74044490-74044490	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1672G>T; p.V558L; 15:74034492-74034492	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>T; p.P410P; 15:74024903-74024903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1281C>T; p.A427A; 15:74032598-74032598	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.630G>T; p.P210P; 15:74022855-74022855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.523C>T; p.R175C; 15:73998397-73998397	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.259C>T; p.Q87*; 15:73998133-73998133	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2008C>T; p.R670C; 15:74044367-74044367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.358C>T; p.R120W; 15:73998232-73998232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1448A>C; p.Q483P; 15:74033205-74033205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.899C>T; p.A300V; 15:74023124-74023124	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2203G>A; p.A735T; 15:74044562-74044562	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2138T>G; p.L713R; 15:74044497-74044497	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1648delG; p.E551fs*8; 15:74033405-74033405	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.884G>A; p.R295H; 15:74023109-74023109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1901G>T; p.S634I; 15:74044260-74044260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>A; p.G720R; 15:74044517-74044517	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.351G>A; p.S117S; 15:73998225-73998225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.583C>T; p.R195C; 15:73998457-73998457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.72_73insC; p.E27fs*5; 15:73994884-73994885	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.288C>T; p.P96P; 15:73998162-73998162	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2615G>A; p.R872H; 15:74044974-74044974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1184-8T>C; p.?; 15:74024849-74024849	liver	carcinoma	Unknown
c.1219G>T; p.A407S; 15:74024892-74024892	liver	carcinoma	Substitution - Missense
c.1736G>T; p.S579I; 15:74043014-74043014	liver	carcinoma	Substitution - Missense
c.1736G>T; p.S579I; 15:74043014-74043014	liver	carcinoma	Substitution - Missense
c.1736G>T; p.S579I; 15:74043014-74043014	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2217C>T; p.S739S; 15:74044576-74044576	liver	carcinoma	Substitution - coding silent
c.2217C>T; p.S739S; 15:74044576-74044576	liver	carcinoma	Substitution - coding silent
c.2598C>T; p.S866S; 15:74044957-74044957	liver	carcinoma	Substitution - coding silent
c.2598C>T; p.S866S; 15:74044957-74044957	liver	carcinoma	Substitution - coding silent
c.1461G>T; p.K487N; 15:74033218-74033218	liver	carcinoma	Substitution - Missense
c.1461G>T; p.K487N; 15:74033218-74033218	liver	carcinoma	Substitution - Missense
c.1474G>T; p.E492*; 15:74033231-74033231	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.344G>T; p.R115L; 15:73998218-73998218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.208C>T; p.L70L; 15:73998082-73998082	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2623G>A; p.A875T; 15:74044982-74044982	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2238C>T; p.A746A; 15:74044597-74044597	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1115G>T; p.R372L; 15:74023340-74023340	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2410A>G; p.S804G; 15:74044769-74044769	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1671G>T; p.V557V; 15:74034491-74034491	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2570C>T; p.P857L; 15:74044929-74044929	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.544C>T; p.R182C; 15:73998418-73998418	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1480G>T; p.E494*; 15:74033237-74033237	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1262A>T; p.E421V; 15:74032579-74032579	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.793G>T; p.V265F; 15:74023018-74023018	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1335A>T; p.S445S; 15:74032652-74032652	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.848T>C; p.V283A; 15:74023073-74023073	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.184G>T; p.A62S; 15:73998058-73998058	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2582G>T; p.R861L; 15:74044941-74044941	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.909G>T; p.A303A; 15:74023134-74023134	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.307G>T; p.A103S; 15:73998181-73998181	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.841G>A; p.E281K; 15:74023066-74023066	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1632C>T; p.H544H; 15:74033389-74033389	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1089G>T; p.E363D; 15:74023314-74023314	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2456G>A; p.G819D; 15:74044815-74044815	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.429C>T; p.C143C; 15:73998303-73998303	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1035G>A; p.V345V; 15:74023260-74023260	oesophagus	carcinoma	Substitution - coding silent
c.138C>T; p.P46P; 15:73998012-73998012	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.249G>A; p.A83A; 15:73998123-73998123	ovary	other; neoplasm	Substitution - coding silent
c.1813G>T; p.A605S; 15:74043091-74043091	pancreas	carcinoma	Substitution - Missense
c.2386C>T; p.R796C; 15:74044745-74044745	pancreas	carcinoma	Substitution - Missense
c.2409G>T; p.V803V; 15:74044768-74044768	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.732G>A; p.T244T; 15:74022957-74022957	pancreas	carcinoma	Substitution - coding silent
c.185C>T; p.A62V; 15:73998059-73998059	pancreas	carcinoma	Substitution - Missense
c.1365C>T; p.Y455Y; 15:74032682-74032682	pancreas	carcinoma	Substitution - coding silent
c.1365C>T; p.Y455Y; 15:74032682-74032682	pancreas	carcinoma	Substitution - coding silent
c.1518G>A; p.P506P; 15:74033275-74033275	prostate	carcinoma	Substitution - coding silent
c.345C>T; p.R115R; 15:73998219-73998219	skin	malignant_melanoma	Substitution - coding silent
c.1388C>T; p.S463F; 15:74032705-74032705	skin	malignant_melanoma	Substitution - Missense
c.916C>T; p.Q306*; 15:74023141-74023141	skin	malignant_melanoma	Substitution - Nonsense
c.916C>T; p.Q306*; 15:74023141-74023141	skin	malignant_melanoma	Substitution - Nonsense
c.1949C>T; p.S650F; 15:74044308-74044308	skin	malignant_melanoma	Substitution - Missense
c.200C>T; p.P67L; 15:73998074-73998074	skin	malignant_melanoma	Substitution - Missense
c.1406C>T; p.S469F; 15:74033163-74033163	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2533G>A; p.A845T; 15:74044892-74044892	skin	malignant_melanoma	Substitution - Missense
c.557A>G; p.N186S; 15:73998431-73998431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.252G>A; p.S84S; 15:73998126-73998126	skin	malignant_melanoma	Substitution - coding silent
c.2383_2384insC; p.R796fs*20; 15:74044742-74044743	skin	malignant_melanoma	Insertion - Frameshift
c.2004C>T; p.S668S; 15:74044363-74044363	skin	malignant_melanoma	Substitution - coding silent
c.327C>T; p.F109F; 15:73998201-73998201	skin	malignant_melanoma	Substitution - coding silent
c.1716C>T; p.S572S; 15:74042994-74042994	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.738G>A; p.A246A; 15:74022963-74022963	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1647C>T; p.A549A; 15:74033404-74033404	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078C>T; p.R360C; 15:74023303-74023303	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.908C>T; p.A303V; 15:74023133-74023133	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.249G>A; p.A83A; 15:73998123-73998123	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1355T>C; p.V452A; 15:74032672-74032672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1886C>T; p.A629V; 15:74044245-74044245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1238C>T; p.P413L; 15:74024911-74024911	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1043T>C; p.M348T; 15:74023268-74023268	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.871C>T; p.R291W; 15:74023096-74023096	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.509G>A; p.R170H; 15:73998383-73998383	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2344C>T; p.Q782*; 15:74044703-74044703	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1145G>A; p.R382H; 15:74023370-74023370	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.251C>T; p.S84L; 15:73998125-73998125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>A; p.R195H; 15:73998458-73998458	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1670T>G; p.V557G; 15:74034490-74034490	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1098C>A; p.S366R; 15:74023323-74023323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1933T>C; p.F645L; 15:74044292-74044292	thyroid	other; neoplasm	Substitution - Missense
c.2573C>T; p.A858V; 15:74044932-74044932	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2200C>T; p.L734L; 15:74044559-74044559	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.851G>T; p.R284L; 15:74023076-74023076	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.851G>T; p.R284L; 15:74023076-74023076	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2269C>T; p.L757F; 15:74044628-74044628	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1087G>A; p.E363K; 15:74023312-74023312	urinary_tract; bladder	carcinoma	Substitution - Missense
c.424G>C; p.E142Q; 15:73998298-73998298	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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