Entrez Gene

Basic Information
Gene ID	55612
Name	FERMT1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1937A>G; p.Y646C; 20:6077270-6077270	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.179C>T; p.A60V; 20:6116017-6116017	skin	malignant_melanoma	Substitution - Missense
c.336C>A; p.S112R; 20:6115860-6115860	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1150T>G; p.L384V; 20:6089079-6089079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1714G>T; p.V572F; 20:6084044-6084044	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1077G>A; p.A359A; 20:6096914-6096914	skin	malignant_melanoma	Substitution - coding silent
c.928G>A; p.E310K; 20:6097553-6097553	skin	malignant_melanoma	Substitution - Missense
c.628C>T; p.P210S; 20:6110416-6110416	skin	malignant_melanoma	Substitution - Missense
c.1067G>A; p.G356D; 20:6096924-6096924	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.669A>G; p.Q223Q; 20:6110375-6110375	skin	malignant_melanoma	Substitution - coding silent
c.1869C>T; p.I623I; 20:6077338-6077338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1546G>C; p.E516Q; 20:6085113-6085113	thyroid	carcinoma	Substitution - Missense
c.385+4A>T; p.?; 20:6115807-6115807	stomach	adenocarcinoma	Unknown
c.1812G>A; p.W604*; 20:6079484-6079484	skin; scalp	malignant_melanoma	Substitution - Nonsense
c.863G>A; p.R288Q; 20:6097618-6097618	skin	malignant_melanoma	Substitution - Missense
c.1559C>T; p.S520L; 20:6085100-6085100	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.386-2A>G; p.?; 20:6112625-6112625	stomach	adenocarcinoma	Unknown
c.1383C>T; p.Y461Y; 20:6085276-6085276	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1494G>A; p.R498R; 20:6085165-6085165	skin	malignant_melanoma	Substitution - coding silent
c.1674G>A; p.A558A; 20:6084084-6084084	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1836G>A; p.W612*; 20:6079460-6079460	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1076C>A; p.A359E; 20:6096915-6096915	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.958T>C; p.Y320H; 20:6097033-6097033	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1076C>A; p.A359E; 20:6096915-6096915	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.92T>A; p.L31Q; 20:6119463-6119463	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.763C>T; p.R255C; 20:6107618-6107618	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1076C>A; p.A359E; 20:6096915-6096915	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1534G>T; p.D512Y; 20:6085125-6085125	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1534G>T; p.D512Y; 20:6085125-6085125	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1431G>A; p.M477I; 20:6085228-6085228	skin	malignant_melanoma	Substitution - Missense
c.1290T>C; p.N430N; 20:6087858-6087858	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.2021G>T; p.G674V; 20:6077186-6077186	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.441G>A; p.K147K; 20:6112568-6112568	skin	malignant_melanoma	Substitution - coding silent
c.1331T>C; p.V444A; 20:6087817-6087817	skin	malignant_melanoma	Substitution - Missense
c.856G>A; p.A286T; 20:6097625-6097625	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.827C>T; p.S276F; 20:6107554-6107554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.410C>T; p.S137F; 20:6112599-6112599	skin	malignant_melanoma	Substitution - Missense
c.410C>T; p.S137F; 20:6112599-6112599	skin	malignant_melanoma	Substitution - Missense
c.757T>C; p.S253P; 20:6107624-6107624	breast	carcinoma	Substitution - Missense
c.225G>T; p.W75C; 20:6115971-6115971	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1890T>C; p.F630F; 20:6077317-6077317	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1991T>G; p.L664R; 20:6077216-6077216	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.84C>T; p.D28D; 20:6119471-6119471	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.84C>T; p.D28D; 20:6119471-6119471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.385+1G>A; p.?; 20:6115810-6115810	stomach	adenocarcinoma	Unknown
c.1185C>T; p.I395I; 20:6089044-6089044	skin	malignant_melanoma	Substitution - coding silent
c.1122T>C; p.D374D; 20:6094956-6094956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1291G>T; p.V431L; 20:6087857-6087857	thyroid	other; neoplasm	Substitution - Missense
c.1915G>T; p.D639Y; 20:6077292-6077292	urinary_tract; bladder	carcinoma	Substitution - Missense
c.433T>C; p.Y145H; 20:6112576-6112576	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.959A>G; p.Y320C; 20:6097032-6097032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1757C>T; p.S586L; 20:6079539-6079539	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.154A>G; p.I52V; 20:6116042-6116042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1139+1G>C; p.?; 20:6094938-6094938	stomach	carcinoma; adenocarcinoma	Unknown
c.835G>A; p.D279N; 20:6107546-6107546	skin; abdomen	malignant_melanoma	Substitution - Missense
c.850T>C; p.Y284H; 20:6097631-6097631	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.850T>C; p.Y284H; 20:6097631-6097631	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.557C>T; p.T186I; 20:6110487-6110487	skin	malignant_melanoma	Substitution - Missense
c.447G>C; p.K149N; 20:6112562-6112562	breast	carcinoma	Substitution - Missense
c.882G>A; p.E294E; 20:6097599-6097599	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.63C>A; p.P21P; 20:6119492-6119492	skin	malignant_melanoma	Substitution - coding silent
c.854A>T; p.D285V; 20:6097627-6097627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.289C>T; p.L97L; 20:6115907-6115907	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.812G>A; p.R271Q; 20:6107569-6107569	skin	malignant_melanoma	Substitution - Missense
c.152A>C; p.N51T; 20:6116044-6116044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1631C>T; p.A544V; 20:6084127-6084127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9A>C; p.S3S; 20:6119546-6119546	skin	malignant_melanoma	Substitution - coding silent
c.1997A>C; p.E666A; 20:6077210-6077210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1973A>G; p.K658R; 20:6077234-6077234	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.371T>C; p.I124T; 20:6115825-6115825	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1258C>A; p.L420I; 20:6088971-6088971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2022C>T; p.G674G; 20:6077185-6077185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1508A>C; p.Q503P; 20:6085151-6085151	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1756delT; p.S586fs*5; 20:6079540-6079540	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.676delC; p.Q226fs*26; 20:6110368-6110368	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.676delC; p.Q226fs*26; 20:6110368-6110368	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.618C>T; p.F206F; 20:6110426-6110426	skin	malignant_melanoma	Substitution - coding silent
c.618C>T; p.F206F; 20:6110426-6110426	skin	malignant_melanoma	Substitution - coding silent
c.957+10C>A; p.?; 20:6097514-6097514	eye; uveal_tract	malignant_melanoma; spindle	Unknown
c.1617G>A; p.A539A; 20:6084141-6084141	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.925G>A; p.E309K; 20:6097556-6097556	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.807C>G; p.L269L; 20:6107574-6107574	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.829T>A; p.F277I; 20:6107552-6107552	skin	malignant_melanoma	Substitution - Missense
c.1205C>T; p.A402V; 20:6089024-6089024	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.292C>T; p.R98C; 20:6115904-6115904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.292C>T; p.R98C; 20:6115904-6115904	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1814G>A; p.R605K; 20:6079482-6079482	skin	malignant_melanoma	Substitution - Missense
c.1814G>A; p.R605K; 20:6079482-6079482	skin	malignant_melanoma	Substitution - Missense
c.292C>T; p.R98C; 20:6115904-6115904	pancreas	carcinoma	Substitution - Missense
c.764G>A; p.R255H; 20:6107617-6107617	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.L385L; 20:6089076-6089076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1153C>T; p.L385L; 20:6089076-6089076	thyroid	other; neoplasm	Substitution - coding silent
c.1400C>T; p.A467V; 20:6085259-6085259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1400C>T; p.A467V; 20:6085259-6085259	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.128T>G; p.M43R; 20:6119427-6119427	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.128T>G; p.M43R; 20:6119427-6119427	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.792G>A; p.E264E; 20:6107589-6107589	skin	malignant_melanoma	Substitution - coding silent
c.845C>T; p.P282L; 20:6107536-6107536	skin	malignant_melanoma	Substitution - Missense
c.1575A>G; p.K525K; 20:6085084-6085084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1525G>A; p.E509K; 20:6085134-6085134	skin	malignant_melanoma	Substitution - Missense
c.1525G>A; p.E509K; 20:6085134-6085134	skin	malignant_melanoma	Substitution - Missense
c.2012A>G; p.K671R; 20:6077195-6077195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1770G>A; p.L590L; 20:6079526-6079526	skin	malignant_melanoma	Substitution - coding silent
c.695C>T; p.A232V; 20:6110349-6110349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.795delT; p.D265fs*16; 20:6107586-6107586	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.931G>A; p.E311K; 20:6097550-6097550	skin	malignant_melanoma	Substitution - Missense
c.1199C>T; p.S400F; 20:6089030-6089030	skin	malignant_melanoma	Substitution - Missense
c.1959G>T; p.L653F; 20:6077248-6077248	pancreas	NS	Substitution - Missense
c.1726G>A; p.G576R; 20:6079570-6079570	skin	malignant_melanoma	Substitution - Missense
c.1070G>A; p.G357E; 20:6096921-6096921	skin	malignant_melanoma	Substitution - Missense
c.479T>C; p.I160T; 20:6112530-6112530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1945G>A; p.G649S; 20:6077262-6077262	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1945G>A; p.G649S; 20:6077262-6077262	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.479T>C; p.I160T; 20:6112530-6112530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.386-1G>A; p.?; 20:6112624-6112624	stomach	adenocarcinoma	Unknown
c.898A>G; p.I300V; 20:6097583-6097583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1422C>A; p.G474G; 20:6085237-6085237	pancreas	carcinoma	Substitution - coding silent
c.1587C>T; p.S529S; 20:6085072-6085072	skin	malignant_melanoma	Substitution - coding silent
c.1024G>A; p.E342K; 20:6096967-6096967	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.514A>G; p.T172A; 20:6112495-6112495	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1222G>T; p.E408*; 20:6089007-6089007	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1034C>T; p.A345V; 20:6096957-6096957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1034C>T; p.A345V; 20:6096957-6096957	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1970C>T; p.S657F; 20:6077237-6077237	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.578C>A; p.P193H; 20:6110466-6110466	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.1059C>T; p.T353T; 20:6096932-6096932	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1485G>A; p.M495I; 20:6085174-6085174	NS	malignant_melanoma	Substitution - Missense
c.1485G>A; p.M495I; 20:6085174-6085174	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.578C>A; p.P193H; 20:6110466-6110466	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1485G>A; p.M495I; 20:6085174-6085174	NS	malignant_melanoma	Substitution - Missense
c.578C>A; p.P193H; 20:6110466-6110466	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.67G>A; p.E23K; 20:6119488-6119488	skin	malignant_melanoma	Substitution - Missense
c.1181T>G; p.F394C; 20:6089048-6089048	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1132T>G; p.L378V; 20:6094946-6094946	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1790C>G; p.T597S; 20:6079506-6079506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.509C>A; p.S170Y; 20:6112500-6112500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.152-1G>A; p.?; 20:6116045-6116045	stomach	adenocarcinoma	Unknown
c.509C>A; p.S170Y; 20:6112500-6112500	breast	carcinoma	Substitution - Missense
c.704A>C; p.Y235S; 20:6110340-6110340	skin	malignant_melanoma	Substitution - Missense
c.1908G>A; p.L636L; 20:6077299-6077299	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1673C>T; p.A558V; 20:6084085-6084085	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1931A>G; p.H644R; 20:6077276-6077276	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.975G>A; p.L325L; 20:6097016-6097016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.642A>G; p.Q214Q; 20:6110402-6110402	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1577G>A; p.R526K; 20:6085082-6085082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1089+3A>G; p.?; 20:6096899-6096899	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1372-1G>T; p.?; 20:6085288-6085288	stomach	adenocarcinoma	Unknown
c.1344G>A; p.M448I; 20:6087804-6087804	skin	malignant_melanoma	Substitution - Missense
c.1344G>A; p.M448I; 20:6087804-6087804	skin	malignant_melanoma	Substitution - Missense
c.1270G>A; p.E424K; 20:6087878-6087878	NS	malignant_melanoma	Substitution - Missense
c.306G>A; p.P102P; 20:6115890-6115890	skin	malignant_melanoma	Substitution - coding silent
c.242G>C; p.G81A; 20:6115954-6115954	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.211C>T; p.L71L; 20:6115985-6115985	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent

The somatic mutations from COSMIC database