Entrez Gene

Basic Information
Gene ID	84944
Name	MAEL
Synonymous	maelstrom spermatogenic transposon silencer;MAEL;maelstrom spermatogenic transposon silencer
Definition	cancer/testis antigen 128\|maelstrom homolog\|protein maelstrom homolog\|spermatogenesis associated 35
Position	1q24.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1175G>A; p.G392E; 1:167021725-167021725	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1253C>T; p.S418L; 1:167021803-167021803	skin	malignant_melanoma	Substitution - Missense
c.833C>A; p.S278Y; 1:167005385-167005385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1068C>A; p.F356L; 1:167021111-167021111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.520G>A; p.A174T; 1:166994066-166994066	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.979G>C; p.D327H; 1:167017897-167017897	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.799C>T; p.R267*; 1:167005351-167005351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.799C>T; p.R267*; 1:167005351-167005351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.799C>T; p.R267*; 1:167005351-167005351	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.799C>T; p.R267*; 1:167005351-167005351	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6G>A; p.P2P; 1:166989358-166989358	skin; leg	malignant_melanoma	Substitution - coding silent
c.6G>A; p.P2P; 1:166989358-166989358	skin; leg	malignant_melanoma	Substitution - coding silent
c.1116T>C; p.I372I; 1:167021159-167021159	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.39C>A; p.F13L; 1:166989391-166989391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.176G>A; p.R59Q; 1:166989780-166989780	skin	malignant_melanoma	Substitution - Missense
c.1292C>G; p.S431C; 1:167021842-167021842	skin	malignant_melanoma	Substitution - Missense
c.208G>T; p.G70W; 1:166989812-166989812	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.219G>A; p.E73E; 1:166989823-166989823	skin	malignant_melanoma	Substitution - coding silent
c.201G>A; p.K67K; 1:166989805-166989805	skin	malignant_melanoma	Substitution - coding silent
c.158A>G; p.K53R; 1:166989762-166989762	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.A297V; 1:167016266-167016266	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1039C>T; p.Q347*; 1:167017957-167017957	skin	malignant_melanoma	Substitution - Nonsense
c.562C>T; p.R188C; 1:167004218-167004218	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.562C>T; p.R188C; 1:167004218-167004218	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830A>G; p.Y277C; 1:167005382-167005382	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.854G>C; p.W285S; 1:167016230-167016230	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.42C>T; p.F14F; 1:166989394-166989394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.148G>A; p.E50K; 1:166989752-166989752	skin	malignant_melanoma	Substitution - Missense
c.639C>A; p.I213I; 1:167004295-167004295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.524-2A>G; p.?; 1:167004178-167004178	lung	carcinoma; adenocarcinoma	Unknown
c.30T>G; p.A10A; 1:166989382-166989382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4C>T; p.P2S; 1:166989356-166989356	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4C>T; p.P2S; 1:166989356-166989356	skin	malignant_melanoma	Substitution - Missense
c.4C>T; p.P2S; 1:166989356-166989356	skin	malignant_melanoma	Substitution - Missense
c.1033C>T; p.R345C; 1:167017951-167017951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1033C>T; p.R345C; 1:167017951-167017951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>T; p.P182L; 1:167004201-167004201	liver	carcinoma	Substitution - Missense
c.545C>T; p.P182L; 1:167004201-167004201	liver	carcinoma	Substitution - Missense
c.590A>G; p.Q197R; 1:167004246-167004246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.908C>T; p.A303V; 1:167016284-167016284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1161C>T; p.S387S; 1:167021711-167021711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.908C>T; p.A303V; 1:167016284-167016284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1161C>T; p.S387S; 1:167021711-167021711	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.624G>A; p.G208G; 1:167004280-167004280	skin	malignant_melanoma	Substitution - coding silent
c.845+9A>G; p.?; 1:167005406-167005406	liver	carcinoma	Unknown
c.142G>A; p.E48K; 1:166989746-166989746	skin	malignant_melanoma	Substitution - Missense
c.189C>T; p.A63A; 1:166989793-166989793	breast	carcinoma	Substitution - coding silent
c.708C>T; p.I236I; 1:167005260-167005260	skin	malignant_melanoma	Substitution - coding silent
c.23G>T; p.R8L; 1:166989375-166989375	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1165C>T; p.R389W; 1:167021715-167021715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1165C>T; p.R389W; 1:167021715-167021715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.869A>G; p.D290G; 1:167016245-167016245	liver	carcinoma	Substitution - Missense
c.859G>A; p.E287K; 1:167016235-167016235	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.212C>A; p.P71H; 1:166989816-166989816	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1103C>T; p.S368L; 1:167021146-167021146	skin	malignant_melanoma	Substitution - Missense
c.869A>G; p.D290G; 1:167016245-167016245	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.622G>T; p.G208W; 1:167004278-167004278	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.57delC; p.E21fs*26; 1:166989409-166989409	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1158C>T; p.S386S; 1:167021708-167021708	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.337G>A; p.G113S; 1:166992697-166992697	skin	malignant_melanoma	Substitution - Missense
c.484G>T; p.E162*; 1:166994030-166994030	breast	carcinoma	Substitution - Nonsense
c.506T>C; p.F169S; 1:166994052-166994052	pancreas	carcinoma	Substitution - Missense
c.187G>A; p.A63T; 1:166989791-166989791	skin	malignant_melanoma	Substitution - Missense
c.1136C>A; p.A379E; 1:167021686-167021686	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1037A>G; p.Y346C; 1:167017955-167017955	skin	malignant_melanoma	Substitution - Missense
c.341delT; p.Y116fs*3; 1:166992701-166992701	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1028C>A; p.A343E; 1:167017946-167017946	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.648+2T>C; p.?; 1:167004306-167004306	lung	carcinoma; adenocarcinoma	Unknown
c.12T>C; p.R4R; 1:166989364-166989364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.306G>C; p.L102F; 1:166991458-166991458	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.189C>A; p.A63A; 1:166989793-166989793	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.857A>T; p.H286L; 1:167016233-167016233	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>T; p.G373C; 1:167021160-167021160	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.556T>G; p.F186V; 1:167004212-167004212	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.502C>T; p.R168*; 1:166994048-166994048	skin	malignant_melanoma	Substitution - Nonsense
c.556T>G; p.F186V; 1:167004212-167004212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.502C>T; p.R168*; 1:166994048-166994048	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1291T>C; p.S431P; 1:167021841-167021841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.605T>G; p.F202C; 1:167004261-167004261	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.714A>C; p.Q238H; 1:167005266-167005266	skin	malignant_melanoma	Substitution - Missense
c.976C>T; p.Q326*; 1:167017894-167017894	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1015G>A; p.V339I; 1:167017933-167017933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.656A>T; p.D219V; 1:167005083-167005083	breast	carcinoma	Substitution - Missense
c.818C>T; p.A273V; 1:167005370-167005370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1072C>G; p.H358D; 1:167021115-167021115	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928C>A; p.L310M; 1:167017846-167017846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.639C>T; p.I213I; 1:167004295-167004295	skin	malignant_melanoma	Substitution - coding silent
c.684G>A; p.K228K; 1:167005111-167005111	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.438C>A; p.L146L; 1:166992798-166992798	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.559G>A; p.E187K; 1:167004215-167004215	skin	malignant_melanoma	Substitution - Missense
c.909-1G>A; p.?; 1:167017826-167017826	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.717T>A; p.D239E; 1:167005269-167005269	liver	carcinoma	Substitution - Missense
c.717T>A; p.D239E; 1:167005269-167005269	liver	carcinoma	Substitution - Missense
c.1029A>G; p.A343A; 1:167017947-167017947	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.121T>G; p.S41A; 1:166989473-166989473	breast	carcinoma	Substitution - Missense
c.882T>G; p.C294W; 1:167016258-167016258	skin	malignant_melanoma	Substitution - Missense
c.760C>T; p.Q254*; 1:167005312-167005312	skin	malignant_melanoma	Substitution - Nonsense
c.434C>T; p.S145F; 1:166992794-166992794	breast	carcinoma	Substitution - Missense
c.862G>T; p.E288*; 1:167016238-167016238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.405C>T; p.L135L; 1:166992765-166992765	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.416T>C; p.I139T; 1:166992776-166992776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.782C>T; p.P261L; 1:167005334-167005334	skin	malignant_melanoma	Substitution - Missense
c.840C>T; p.N280N; 1:167005392-167005392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1070C>G; p.S357C; 1:167021113-167021113	skin	malignant_melanoma	Substitution - Missense
c.811G>A; p.D271N; 1:167005363-167005363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.926C>A; p.S309Y; 1:167017844-167017844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.460T>C; p.F154L; 1:166992820-166992820	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1247C>T; p.S416L; 1:167021797-167021797	skin	malignant_melanoma	Substitution - Missense
c.301G>A; p.A101T; 1:166991453-166991453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1145C>T; p.S382F; 1:167021695-167021695	skin	malignant_melanoma	Substitution - Missense
c.909-1G>T; p.?; 1:167017826-167017826	lung	carcinoma; adenocarcinoma	Unknown
c.800G>A; p.R267Q; 1:167005352-167005352	skin	malignant_melanoma	Substitution - Missense
c.800G>A; p.R267Q; 1:167005352-167005352	skin	malignant_melanoma	Substitution - Missense
c.175C>T; p.R59*; 1:166989779-166989779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.16G>T; p.A6S; 1:166989368-166989368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.E21K; 1:166989413-166989413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.175C>T; p.R59*; 1:166989779-166989779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.61G>A; p.E21K; 1:166989413-166989413	skin	malignant_melanoma	Substitution - Missense
c.61G>A; p.E21K; 1:166989413-166989413	skin	malignant_melanoma	Substitution - Missense
c.925T>G; p.S309A; 1:167017843-167017843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.484G>A; p.E162K; 1:166994030-166994030	skin	malignant_melanoma	Substitution - Missense
c.1217A>G; p.N406S; 1:167021767-167021767	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.484G>A; p.E162K; 1:166994030-166994030	skin	malignant_melanoma	Substitution - Missense
c.484G>A; p.E162K; 1:166994030-166994030	skin	malignant_melanoma	Substitution - Missense
c.1290C>A; p.F430L; 1:167021840-167021840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.160T>C; p.Y54H; 1:166989764-166989764	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1082C>A; p.S361Y; 1:167021125-167021125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.445G>A; p.G149S; 1:166992805-166992805	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.237C>T; p.F79F; 1:166991389-166991389	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.652G>A; p.D218N; 1:167005079-167005079	skin	malignant_melanoma	Substitution - Missense
c.652G>A; p.D218N; 1:167005079-167005079	skin	malignant_melanoma	Substitution - Missense
c.908+1G>A; p.?; 1:167016285-167016285	stomach	carcinoma; adenocarcinoma	Unknown
c.900G>A; p.K300K; 1:167016276-167016276	breast	carcinoma	Substitution - coding silent
c.178G>T; p.E60*; 1:166989782-166989782	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.515A>T; p.Q172L; 1:166994061-166994061	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.781_782CC>TT; p.P261F; 1:167005333-167005334	skin	malignant_melanoma	Substitution - Missense
c.772C>A; p.L258I; 1:167005324-167005324	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.772C>A; p.L258I; 1:167005324-167005324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293T>C; p.S431S; 1:167021843-167021843	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1064G>A; p.G355E; 1:167021107-167021107	skin	malignant_melanoma	Substitution - Missense
c.212C>T; p.P71L; 1:166989816-166989816	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.366C>T; p.S122S; 1:166992726-166992726	skin	malignant_melanoma	Substitution - coding silent
c.621A>T; p.P207P; 1:167004277-167004277	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.23G>A; p.R8Q; 1:166989375-166989375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1162G>A; p.V388I; 1:167021712-167021712	breast	carcinoma	Substitution - Missense
c.1162G>A; p.V388I; 1:167021712-167021712	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.544C>T; p.P182S; 1:167004200-167004200	skin	malignant_melanoma	Substitution - Missense
c.544C>T; p.P182S; 1:167004200-167004200	skin	malignant_melanoma	Substitution - Missense
c.661A>G; p.T221A; 1:167005088-167005088	breast	carcinoma	Substitution - Missense
c.373G>C; p.E125Q; 1:166992733-166992733	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.245T>A; p.L82Q; 1:166991397-166991397	skin	malignant_melanoma	Substitution - Missense
c.642C>T; p.Y214Y; 1:167004298-167004298	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1208C>T; p.S403F; 1:167021758-167021758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1208C>A; p.S403Y; 1:167021758-167021758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]