Entrez Gene

Basic Information
Gene ID	51752
Name	ERAP1
Synonymous	endoplasmic reticulum aminopeptidase 1;ERAP1;endoplasmic reticulum aminopeptidase 1
Definition	adipocyte-derived leucine aminopeptidase\|aminopeptidase PILS\|aminopeptidase regulator of TNFR1 shedding\|endoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoform\|endoplasmic reticulum aminopeptidase 1 delta-Exon-13 isoform\|endoplasmic reticulum aminope
Position	5q15
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.380G>C; p.R127P; 5:96803547-96803547	thyroid	other; neoplasm	Substitution - Missense
c.574C>T; p.P192S; 5:96800951-96800951	skin	malignant_melanoma	Substitution - Missense
c.575C>T; p.P192L; 5:96800950-96800950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1940T>C; p.V647A; 5:96785791-96785791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1817G>T; p.G606V; 5:96785914-96785914	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1939G>T; p.V647F; 5:96785792-96785792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1808G>T; p.G603V; 5:96785923-96785923	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1359T>C; p.S453S; 5:96790605-96790605	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.777G>T; p.K259N; 5:96797196-96797196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.477C>T; p.F159F; 5:96803450-96803450	skin	malignant_melanoma	Substitution - coding silent
c.2698G>T; p.E900*; 5:96776524-96776524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2698G>T; p.E900*; 5:96776524-96776524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1693G>A; p.V565I; 5:96786536-96786536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>A; p.A456T; 5:96790598-96790598	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>A; p.A456T; 5:96790598-96790598	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2744T>C; p.I915T; 5:96776478-96776478	pancreas	carcinoma	Substitution - Missense
c.671C>T; p.S224F; 5:96797302-96797302	skin	malignant_melanoma	Substitution - Missense
c.1625T>C; p.V542A; 5:96788585-96788585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857C>T; p.A286V; 5:96795104-96795104	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1656C>T; p.G552G; 5:96788554-96788554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.409G>A; p.E137K; 5:96803518-96803518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.380delG; p.R127fs*48; 5:96803547-96803547	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.380delG; p.R127fs*48; 5:96803547-96803547	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2150C>T; p.T717I; 5:96783186-96783186	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2154C>T; p.D718D; 5:96783182-96783182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.171C>T; p.Y57Y; 5:96803756-96803756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2092C>G; p.Q698E; 5:96783932-96783932	breast	carcinoma	Substitution - Missense
c.945G>T; p.Q315H; 5:96793932-96793932	ovary	other; neoplasm	Substitution - Missense
c.2772G>A; p.K924K; 5:96776450-96776450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2400A>C; p.Q800H; 5:96781740-96781740	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2149A>G; p.T717A; 5:96783187-96783187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.236C>T; p.T79I; 5:96803691-96803691	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1906C>T; p.R636W; 5:96785825-96785825	liver	carcinoma	Substitution - Missense
c.1861_1864delACTG; p.T621fs*3; 5:96785867-96785870	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.219G>A; p.T73T; 5:96803708-96803708	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1459C>T; p.P487S; 5:96790361-96790361	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.184C>T; p.H62Y; 5:96803743-96803743	skin; mucosal	malignant_melanoma	Substitution - Missense
c.380G>T; p.R127L; 5:96803547-96803547	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1609G>A; p.V537M; 5:96788601-96788601	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1498A>G; p.R500G; 5:96790322-96790322	liver	carcinoma	Substitution - Missense
c.2126A>G; p.D709G; 5:96783210-96783210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>A; p.C193*; 5:96800946-96800946	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.949_950delGG; p.G317fs*11; 5:96793927-96793928	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.305T>C; p.I102T; 5:96803622-96803622	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1680-7A>C; p.?; 5:96786556-96786556	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1941C>G; p.V647V; 5:96785790-96785790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2188C>G; p.Q730E; 5:96783148-96783148	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.204T>C; p.H68H; 5:96803723-96803723	thyroid	other; neoplasm	Substitution - coding silent
c.2545G>A; p.A849T; 5:96781101-96781101	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.524G>A; p.R175K; 5:96803403-96803403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.399G>A; p.L133L; 5:96803528-96803528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1270G>A; p.E424K; 5:96792111-96792111	skin	malignant_melanoma	Substitution - Missense
c.25T>G; p.S9A; 5:96803902-96803902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1587T>G; p.G529G; 5:96788623-96788623	breast	carcinoma	Substitution - coding silent
c.1319A>C; p.K440T; 5:96792062-96792062	stomach	adenocarcinoma	Substitution - Missense
c.2470G>T; p.G824*; 5:96781176-96781176	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.240G>A; p.T80T; 5:96803687-96803687	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.240G>A; p.T80T; 5:96803687-96803687	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1390T>C; p.Y464H; 5:96790574-96790574	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.166G>A; p.E56K; 5:96803761-96803761	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1390T>C; p.Y464H; 5:96790574-96790574	stomach	adenocarcinoma	Substitution - Missense
c.296A>C; p.H99P; 5:96803631-96803631	breast	carcinoma	Substitution - Missense
c.2257A>C; p.K753Q; 5:96783079-96783079	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1045A>G; p.M349V; 5:96793832-96793832	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1037G>A; p.G346D; 5:96793840-96793840	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1467T>A; p.D489E; 5:96790353-96790353	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.432G>A; p.P144P; 5:96803495-96803495	liver	carcinoma	Substitution - coding silent
c.432G>A; p.P144P; 5:96803495-96803495	liver	carcinoma	Substitution - coding silent
c.432G>A; p.P144P; 5:96803495-96803495	liver	carcinoma	Substitution - coding silent
c.524+7T>A; p.?; 5:96803396-96803396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2166C>T; p.V722V; 5:96783170-96783170	liver	carcinoma	Substitution - coding silent
c.2166C>T; p.V722V; 5:96783170-96783170	liver	carcinoma	Substitution - coding silent
c.169T>C; p.Y57H; 5:96803758-96803758	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.169T>C; p.Y57H; 5:96803758-96803758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1540G>A; p.G514R; 5:96788670-96788670	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1979T>A; p.L660*; 5:96784045-96784045	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.60G>A; p.L20L; 5:96803867-96803867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2488C>T; p.Q830*; 5:96781158-96781158	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1939G>A; p.V647I; 5:96785792-96785792	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1063C>G; p.L355V; 5:96793814-96793814	breast	carcinoma	Substitution - Missense
c.1911G>A; p.A637A; 5:96785820-96785820	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2772G>T; p.K924N; 5:96776450-96776450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.433T>C; p.Y145H; 5:96803494-96803494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.468G>A; p.S156S; 5:96803459-96803459	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.985G>T; p.E329*; 5:96793892-96793892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.985G>T; p.E329*; 5:96793892-96793892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1867C>A; p.L623I; 5:96785864-96785864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2067_2068delAA; p.D691fs*3; 5:96783956-96783957	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.845C>T; p.A282V; 5:96795116-96795116	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1560G>A; p.M520I; 5:96788650-96788650	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1635G>T; p.K545N; 5:96788575-96788575	liver	carcinoma	Substitution - Missense
c.1635G>T; p.K545N; 5:96788575-96788575	liver	carcinoma	Substitution - Missense
c.424G>A; p.G142R; 5:96803503-96803503	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1617G>C; p.G539G; 5:96788593-96788593	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1603A>G; p.I535V; 5:96788607-96788607	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.517G>A; p.E173K; 5:96803410-96803410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>T; p.L140F; 5:96803509-96803509	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.525-10T>G; p.?; 5:96801010-96801010	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1189-10A>G; p.?; 5:96792202-96792202	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1189-10A>G; p.?; 5:96792202-96792202	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.525-10T>G; p.?; 5:96801010-96801010	liver	carcinoma	Unknown
c.481G>A; p.G161R; 5:96803446-96803446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1068T>C; p.A356A; 5:96793809-96793809	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1909G>A; p.A637T; 5:96785822-96785822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1958C>A; p.S653Y; 5:96784066-96784066	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.434A>G; p.Y145C; 5:96803493-96803493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1424_1425insA; p.N475fs*7; 5:96790539-96790540	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.525-5T>G; p.?; 5:96801005-96801005	liver	carcinoma	Unknown
c.2836G>A; p.A946T; 5:96763211-96763211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2463C>A; p.S821R; 5:96781183-96781183	pancreas	NS	Substitution - Missense
c.2079_2082delTGAA; p.N693fs*14; 5:96783942-96783945	liver	carcinoma	Deletion - Frameshift
c.951T>C; p.G317G; 5:96793926-96793926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.382C>G; p.Q128E; 5:96803545-96803545	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1836C>G; p.Y612*; 5:96785895-96785895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.347C>T; p.S116L; 5:96803580-96803580	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2406A>T; p.E802D; 5:96781734-96781734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2299G>A; p.V767M; 5:96781841-96781841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1583A>G; p.K528R; 5:96788627-96788627	thyroid	other; neoplasm	Substitution - Missense
c.1583A>G; p.K528R; 5:96788627-96788627	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1685T>G; p.L562R; 5:96786544-96786544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1147G>A; p.E383K; 5:96793441-96793441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]