Entrez Gene

Basic Information
Gene ID	406
Name	ARNTL
Synonymous	aryl hydrocarbon receptor nuclear translocator-like;ARNTL;aryl hydrocarbon receptor nuclear translocator-like
Definition	ARNT-like protein 1, brain and muscle\|PAS domain-containing protein 3\|aryl hydrocarbon receptor nuclear translocator-like protein 1\|bHLH-PAS protein JAP3\|basic-helix-loop-helix-PAS orphan MOP3\|basic-helix-loop-helix-PAS protein MOP3\|brain and muscle ARNT-
Position	11p15
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1024C>G; p.R342G; 11:13372369-13372369	skin	malignant_melanoma	Substitution - Missense
c.1463G>A; p.R488Q; 11:13378388-13378388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.435T>G; p.D145E; 11:13360400-13360400	pancreas	carcinoma	Substitution - Missense
c.254G>A; p.R85Q; 11:13358466-13358466	ovary	other; neoplasm	Substitution - Missense
c.968T>C; p.V323A; 11:13372313-13372313	breast	carcinoma	Substitution - Missense
c.197A>C; p.H66P; 11:13357072-13357072	thyroid	other; neoplasm	Substitution - Missense
c.1536G>A; p.S512S; 11:13381176-13381176	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1536G>A; p.S512S; 11:13381176-13381176	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1642C>G; p.P548A; 11:13385716-13385716	thyroid	other; neoplasm	Substitution - Missense
c.180-8delC; p.?; 11:13357047-13357047	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.731G>A; p.R244Q; 11:13369678-13369678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.264G>T; p.M88I; 11:13358476-13358476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.309C>T; p.N103N; 11:13358521-13358521	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.184G>C; p.E62Q; 11:13357059-13357059	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.553-1G>T; p.?; 11:13366664-13366664	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1096G>T; p.E366*; 11:13374126-13374126	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.250C>T; p.R84C; 11:13358462-13358462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.50C>T; p.S17F; 11:13354358-13354358	skin	malignant_melanoma	Substitution - Missense
c.1388A>T; p.D463V; 11:13376705-13376705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.163G>T; p.D55Y; 11:13356761-13356761	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1499A>C; p.E500A; 11:13378424-13378424	liver	carcinoma	Substitution - Missense
c.1499A>C; p.E500A; 11:13378424-13378424	liver	carcinoma	Substitution - Missense
c.1827T>C; p.D609D; 11:13386705-13386705	liver	carcinoma	Substitution - coding silent
c.588G>A; p.L196L; 11:13366700-13366700	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.943G>A; p.A315T; 11:13372288-13372288	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1211A>C; p.K404T; 11:13375651-13375651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.179+6A>G; p.?; 11:13356783-13356783	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1699G>C; p.D567H; 11:13385773-13385773	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1186G>T; p.E396*; 11:13375626-13375626	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.1182G>A; p.T394T; 11:13375622-13375622	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.64G>A; p.D22N; 11:13354372-13354372	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>T; p.D221Y; 11:13366773-13366773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1789_1791delGCA; p.A598delA; 11:13386667-13386669	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1341C>T; p.G447G; 11:13376658-13376658	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.713G>A; p.R238Q; 11:13369660-13369660	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.713G>A; p.R238Q; 11:13369660-13369660	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.418A>T; p.T140S; 11:13360383-13360383	breast	carcinoma	Substitution - Missense
c.14G>T; p.R5I; 11:13354322-13354322	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1577C>T; p.T526M; 11:13381217-13381217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.222-8T>C; p.?; 11:13358426-13358426	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.109C>T; p.R37C; 11:13354417-13354417	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.109C>T; p.R37C; 11:13354417-13354417	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.829A>C; p.S277R; 11:13372174-13372174	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.741C>A; p.F247L; 11:13369688-13369688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.734G>A; p.R245H; 11:13369681-13369681	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1718-10C>T; p.?; 11:13386586-13386586	ovary	other; neoplasm	Unknown
c.823C>T; p.R275*; 11:13372168-13372168	skin	malignant_melanoma	Substitution - Nonsense
c.1297A>G; p.I433V; 11:13375737-13375737	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1848T>A; p.V616V; 11:13386726-13386726	ovary	other; neoplasm	Substitution - coding silent
c.408C>T; p.N136N; 11:13360373-13360373	breast	carcinoma	Substitution - coding silent
c.328G>T; p.D110Y; 11:13358540-13358540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.459+5G>T; p.?; 11:13360429-13360429	liver	carcinoma	Unknown
c.459+5G>T; p.?; 11:13360429-13360429	liver	carcinoma	Unknown
c.1782T>C; p.N594N; 11:13386660-13386660	breast	carcinoma	Substitution - coding silent
c.1121A>G; p.E374G; 11:13374151-13374151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>T; p.N329N; 11:13372332-13372332	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1840_1841GG>AA; p.G614N; 11:13386718-13386719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.420T>G; p.T140T; 11:13360385-13360385	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1029C>T; p.H343H; 11:13372374-13372374	breast	carcinoma	Substitution - coding silent
c.1113G>A; p.S371S; 11:13374143-13374143	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.211A>C; p.K71Q; 11:13357086-13357086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1277G>A; p.W426*; 11:13375717-13375717	ovary	other; neoplasm	Substitution - Nonsense
c.1181C>T; p.T394M; 11:13375621-13375621	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.830G>T; p.S277I; 11:13372175-13372175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1181C>T; p.T394M; 11:13375621-13375621	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.944C>G; p.A315G; 11:13372289-13372289	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.944C>G; p.A315G; 11:13372289-13372289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1252C>T; p.R418*; 11:13375692-13375692	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.824G>A; p.R275Q; 11:13372169-13372169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1030G>A; p.A344T; 11:13372375-13372375	liver	carcinoma	Substitution - Missense
c.1030G>A; p.A344T; 11:13372375-13372375	stomach	adenocarcinoma	Substitution - Missense
c.1030G>A; p.A344T; 11:13372375-13372375	liver	carcinoma	Substitution - Missense
c.1104A>G; p.L368L; 11:13374134-13374134	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.725G>C; p.G242A; 11:13369672-13369672	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.848G>T; p.S283I; 11:13372193-13372193	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.520G>T; p.E174*; 11:13365560-13365560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1541C>T; p.S514F; 11:13381181-13381181	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887G>T; p.G296V; 11:13372232-13372232	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1581T>C; p.P527P; 11:13381221-13381221	central_nervous_system; brain	glioma	Substitution - coding silent
c.779T>C; p.V260A; 11:13369726-13369726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1009A>G; p.M337V; 11:13372354-13372354	liver	carcinoma	Substitution - Missense
c.1009A>G; p.M337V; 11:13372354-13372354	liver	carcinoma	Substitution - Missense
c.989G>A; p.G330E; 11:13372334-13372334	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.433G>A; p.D145N; 11:13360398-13360398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.670A>T; p.T224S; 11:13366782-13366782	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.248G>A; p.R83Q; 11:13358460-13358460	pancreas	carcinoma	Substitution - Missense
c.110G>A; p.R37H; 11:13354418-13354418	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.110G>A; p.R37H; 11:13354418-13354418	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1643C>A; p.P548H; 11:13385717-13385717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.540C>G; p.L180L; 11:13365580-13365580	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.221+1G>T; p.?; 11:13357097-13357097	lung	carcinoma; adenocarcinoma	Unknown
c.1062G>C; p.Q354H; 11:13372407-13372407	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1062G>C; p.Q354H; 11:13372407-13372407	urinary_tract; bladder	carcinoma	Substitution - Missense
c.904G>A; p.E302K; 11:13372249-13372249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.251G>A; p.R84H; 11:13358463-13358463	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.251G>A; p.R84H; 11:13358463-13358463	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.904G>A; p.E302K; 11:13372249-13372249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.904G>A; p.E302K; 11:13372249-13372249	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.251G>A; p.R84H; 11:13358463-13358463	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.593C>T; p.P198L; 11:13366705-13366705	skin	malignant_melanoma	Substitution - Missense
c.813G>T; p.K271N; 11:13369760-13369760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.892G>T; p.D298Y; 11:13372237-13372237	liver	carcinoma	Substitution - Missense
c.892G>T; p.D298Y; 11:13372237-13372237	liver	carcinoma	Substitution - Missense
c.1696T>C; p.S566P; 11:13385770-13385770	skin	malignant_melanoma	Substitution - Missense
c.871C>A; p.P291T; 11:13372216-13372216	pancreas	carcinoma	Substitution - Missense
c.871C>A; p.P291T; 11:13372216-13372216	pancreas	carcinoma	Substitution - Missense
c.871C>A; p.P291T; 11:13372216-13372216	pancreas	carcinoma	Substitution - Missense
c.1289T>G; p.V430G; 11:13375729-13375729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.358C>T; p.Q120*; 11:13358570-13358570	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.496C>A; p.R166R; 11:13365536-13365536	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.358C>T; p.Q120*; 11:13358570-13358570	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1503A>G; p.E501E; 11:13378428-13378428	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.56_57insC; p.T21fs*25; 11:13354364-13354365	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift

COSMIC somatic mutation [Top]