Entrez Gene

Basic Information
Gene ID	7337
Name	UBE3A
Synonymous	ubiquitin protein ligase E3A;UBE3A;ubiquitin protein ligase E3A
Definition	CTCL tumor antigen se37-2\|E6AP ubiquitin-protein ligase\|human papilloma virus E6-associated protein\|human papillomavirus E6-associated protein\|oncogenic protein-associated protein E6-AP\|renal carcinoma antigen NY-REN-54\|ubiquitin-protein ligase E3A
Position	15q11.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2458C>G; p.L820V; 15:25340134-25340134	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2348A>G; p.D783G; 15:25354368-25354368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1634T>C; p.M545T; 15:25360511-25360511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1095T>A; p.D365E; 15:25371088-25371088	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.40C>T; p.P14S; 15:25405492-25405492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1258A>T; p.K420*; 15:25370925-25370925	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.502C>T; p.R168W; 15:25371681-25371681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.753A>C; p.K251N; 15:25371430-25371430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1900C>T; p.P634S; 15:25356759-25356759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1465A>G; p.K489E; 15:25370718-25370718	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.199G>A; p.A67T; 15:25375636-25375636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.173C>T; p.P58L; 15:25375662-25375662	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2052G>T; p.Q684H; 15:25355973-25355973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.41C>T; p.P14L; 15:25405491-25405491	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.945G>T; p.K315N; 15:25371238-25371238	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2362A>T; p.R788W; 15:25354354-25354354	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.213A>C; p.K71N; 15:25375622-25375622	pancreas	carcinoma	Substitution - Missense
c.1978C>T; p.Q660*; 15:25356047-25356047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.213A>C; p.K71N; 15:25375622-25375622	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.213A>C; p.K71N; 15:25375622-25375622	pancreas	carcinoma	Substitution - Missense
c.792A>T; p.S264S; 15:25371391-25371391	skin	malignant_melanoma	Substitution - coding silent
c.498C>A; p.S166R; 15:25371685-25371685	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.678delA; p.K226fs*2; 15:25371505-25371505	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1872C>T; p.Y624Y; 15:25356787-25356787	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - coding silent
c.1319G>A; p.R440Q; 15:25370864-25370864	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.356G>T; p.R119I; 15:25375479-25375479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2379C>T; p.I793I; 15:25340213-25340213	skin	malignant_melanoma	Substitution - coding silent
c.1319G>A; p.R440Q; 15:25370864-25370864	stomach	adenocarcinoma	Substitution - Missense
c.2287C>T; p.R763W; 15:25354530-25354530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2287C>T; p.R763W; 15:25354530-25354530	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.185G>A; p.R62H; 15:25375650-25375650	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2189T>C; p.F730S; 15:25354628-25354628	skin	malignant_melanoma	Substitution - Missense
c.2530T>G; p.F844V; 15:25339235-25339235	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.657G>A; p.Q219Q; 15:25371526-25371526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1585C>T; p.R529C; 15:25370598-25370598	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.673C>T; p.Q225*; 15:25371510-25371510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1612G>T; p.V538F; 15:25370571-25370571	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1499G>A; p.R500H; 15:25370684-25370684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1203C>T; p.I401I; 15:25370980-25370980	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1375G>T; p.E459*; 15:25370808-25370808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1767G>A; p.M589I; 15:25356892-25356892	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2279G>T; p.C760F; 15:25354538-25354538	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.561C>G; p.D187E; 15:25371622-25371622	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.841C>T; p.P281S; 15:25371342-25371342	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1617G>T; p.R539R; 15:25370566-25370566	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2044A>G; p.I682V; 15:25355981-25355981	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2475G>A; p.M825I; 15:25340117-25340117	urinary_tract; bladder	carcinoma	Substitution - Missense
c.488T>C; p.L163S; 15:25371695-25371695	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2200C>T; p.R734W; 15:25354617-25354617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.458T>G; p.I153S; 15:25371725-25371725	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2383C>T; p.H795Y; 15:25340209-25340209	skin	malignant_melanoma	Substitution - Missense
c.1116G>A; p.S372S; 15:25371067-25371067	breast	carcinoma	Substitution - coding silent
c.1116G>A; p.S372S; 15:25371067-25371067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.883A>C; p.N295H; 15:25371300-25371300	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>G; p.E131G; 15:25371791-25371791	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1725delT; p.Q576fs*39; 15:25360420-25360420	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1193A>T; p.E398V; 15:25370990-25370990	liver	carcinoma	Substitution - Missense
c.142G>A; p.A48T; 15:25375693-25375693	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1825G>C; p.E609Q; 15:25356834-25356834	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2119A>C; p.N707H; 15:25355906-25355906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.618C>T; p.D206D; 15:25371565-25371565	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.754delA; p.I252fs*20; 15:25371429-25371429	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2184A>C; p.K728N; 15:25354633-25354633	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2184A>C; p.K728N; 15:25354633-25354633	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1935_1936insA; p.G646fs*5; 15:25356723-25356724	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1005G>C; p.Q335H; 15:25371178-25371178	breast	carcinoma	Substitution - Missense
c.1517G>T; p.R506I; 15:25370666-25370666	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.129C>A; p.G43G; 15:25375706-25375706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.300G>A; p.S100S; 15:25375535-25375535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.669T>A; p.N223K; 15:25371514-25371514	skin	malignant_melanoma	Substitution - Missense
c.2558C>T; p.S853L; 15:25339207-25339207	urinary_tract; bladder	carcinoma	Substitution - Missense
c.424G>A; p.E142K; 15:25371759-25371759	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2071C>T; p.P691S; 15:25355954-25355954	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1067T>G; p.F356C; 15:25371116-25371116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>C; p.I507L; 15:25370664-25370664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.936G>A; p.A312A; 15:25371247-25371247	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.936G>A; p.A312A; 15:25371247-25371247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2462G>T; p.G821V; 15:25340130-25340130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.783A>G; p.V261V; 15:25371400-25371400	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.328G>A; p.E110K; 15:25375507-25375507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.26G>T; p.W9L; 15:25408623-25408623	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.215C>T; p.A72V; 15:25375620-25375620	skin; trunk	malignant_melanoma	Substitution - Missense
c.2443G>A; p.A815T; 15:25340149-25340149	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.167C>T; p.S56F; 15:25375668-25375668	skin	malignant_melanoma	Substitution - Missense
c.430G>T; p.E144*; 15:25371753-25371753	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.185G>T; p.R62L; 15:25375650-25375650	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>C; p.E34Q; 15:25375735-25375735	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2122G>T; p.E708*; 15:25355903-25355903	ovary	carcinoma; adenocarcinoma	Substitution - Nonsense
c.220G>A; p.E74K; 15:25375615-25375615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.220G>A; p.E74K; 15:25375615-25375615	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1763-7C>A; p.?; 15:25356903-25356903	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2452G>T; p.G818*; 15:25340140-25340140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.836G>A; p.R279Q; 15:25371347-25371347	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.836G>A; p.R279Q; 15:25371347-25371347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1935delA; p.G646fs*17; 15:25356724-25356724	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.620C>G; p.S207*; 15:25371563-25371563	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.568G>T; p.E190*; 15:25371615-25371615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1055T>C; p.I352T; 15:25371128-25371128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1653G>A; p.L551L; 15:25360492-25360492	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.575A>C; p.E192A; 15:25371608-25371608	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1717G>T; p.E573*; 15:25360428-25360428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1717G>T; p.E573*; 15:25360428-25360428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.681A>T; p.L227F; 15:25371502-25371502	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2075T>G; p.M692R; 15:25355950-25355950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246G>T; p.E416*; 15:25370937-25370937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.503G>A; p.R168Q; 15:25371680-25371680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1268C>T; p.P423L; 15:25370915-25370915	skin	malignant_melanoma	Substitution - Missense
c.1719A>T; p.E573D; 15:25360426-25360426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2381T>A; p.V794D; 15:25340211-25340211	breast	carcinoma	Substitution - Missense
c.1271G>A; p.R424Q; 15:25370912-25370912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2110C>T; p.P704S; 15:25355915-25355915	skin	malignant_melanoma	Substitution - Missense
c.1271G>A; p.R424Q; 15:25370912-25370912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1375G>C; p.E459Q; 15:25370808-25370808	urinary_tract; bladder	carcinoma	Substitution - Missense
c.578delA; p.K193fs*22; 15:25371605-25371605	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1616G>A; p.R539Q; 15:25370567-25370567	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.950C>T; p.P317L; 15:25371233-25371233	skin	malignant_melanoma	Substitution - Missense
c.1083A>T; p.L361L; 15:25371100-25371100	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1267C>T; p.P423S; 15:25370916-25370916	skin	malignant_melanoma	Substitution - Missense
c.2436_2446del11; p.D813fs*29; 15:25340146-25340156	breast	carcinoma	Deletion - Frameshift
c.1726C>T; p.Q576*; 15:25360419-25360419	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.46T>C; p.S16P; 15:25405486-25405486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.710A>G; p.D237G; 15:25371473-25371473	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.1589A>G; p.D530G; 15:25370594-25370594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1498C>T; p.R500C; 15:25370685-25370685	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1498C>T; p.R500C; 15:25370685-25370685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1498C>T; p.R500C; 15:25370685-25370685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1945C>T; p.R649C; 15:25356714-25356714	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2301C>A; p.F767L; 15:25354415-25354415	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1965C>T; p.H655H; 15:25356694-25356694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261C>T; p.P87P; 15:25375574-25375574	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2507G>A; p.R836K; 15:25340085-25340085	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1076G>A; p.R359Q; 15:25371107-25371107	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1076G>A; p.R359Q; 15:25371107-25371107	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1076G>A; p.R359Q; 15:25371107-25371107	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1115C>T; p.S372L; 15:25371068-25371068	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1416G>T; p.E472D; 15:25370767-25370767	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1115C>T; p.S372L; 15:25371068-25371068	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1132delG; p.V378fs*6; 15:25371051-25371051	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1076G>T; p.R359L; 15:25371107-25371107	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1430T>G; p.F477C; 15:25370753-25370753	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2255C>A; p.P752Q; 15:25354562-25354562	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1430T>G; p.F477C; 15:25370753-25370753	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2415C>T; p.F805F; 15:25340177-25340177	skin	malignant_melanoma	Substitution - coding silent
c.61G>T; p.A21S; 15:25405471-25405471	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2247A>C; p.L749F; 15:25354570-25354570	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1178A>G; p.N393S; 15:25371005-25371005	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.1854A>G; p.V618V; 15:25356805-25356805	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2567A>G; p.E856G; 15:25339198-25339198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.45G>T; p.Q15H; 15:25405487-25405487	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1630G>A; p.A544T; 15:25360515-25360515	ovary	other; neoplasm	Substitution - Missense
c.1648G>T; p.D550Y; 15:25360497-25360497	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1186G>T; p.D396Y; 15:25370997-25370997	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.371-1G>T; p.?; 15:25371813-25371813	lung	carcinoma; adenocarcinoma	Unknown
c.2168A>G; p.N723S; 15:25354649-25354649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.816G>A; p.T272T; 15:25371367-25371367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.842C>T; p.P281L; 15:25371341-25371341	liver	carcinoma	Substitution - Missense
c.2184A>G; p.K728K; 15:25354633-25354633	stomach	adenocarcinoma	Substitution - coding silent
c.842C>T; p.P281L; 15:25371341-25371341	liver	carcinoma	Substitution - Missense
c.2407A>C; p.R803R; 15:25340185-25340185	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2206G>T; p.G736C; 15:25354611-25354611	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2081A>G; p.Y694C; 15:25355944-25355944	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2429C>T; p.T810M; 15:25340163-25340163	skin	malignant_melanoma	Substitution - Missense
c.2282G>C; p.G761A; 15:25354535-25354535	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.431A>G; p.E144G; 15:25371752-25371752	liver	carcinoma	Substitution - Missense
c.799G>A; p.V267M; 15:25371384-25371384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.E205K; 15:25371570-25371570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.139G>A; p.E47K; 15:25375696-25375696	prostate	carcinoma	Substitution - Missense
c.1557G>T; p.L519F; 15:25370626-25370626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2491G>T; p.G831C; 15:25340101-25340101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.351C>T; p.G117G; 15:25375484-25375484	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1523C>T; p.T508I; 15:25370660-25370660	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]