Entrez Gene

Basic Information
Gene ID	3670
Name	ISL1
Synonymous	ISL LIM homeobox 1;ISL1;ISL LIM homeobox 1
Definition	ISL1 transcription factor, LIM/homeodomain\|insulin gene enhancer protein ISL-1\|islet-1
Position	5q11.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.286C>T; p.R96C; 5:51387557-51387557	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.214A>T; p.I72F; 5:51384726-51384726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.217A>T; p.R73W; 5:51384729-51384729	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.757G>C; p.D253H; 5:51389924-51389924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.532C>T; p.P178S; 5:51389699-51389699	breast	other; fibroadenoma	Substitution - Missense
c.732G>A; p.K244K; 5:51389899-51389899	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.69G>T; p.Q23H; 5:51384581-51384581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.354C>T; p.D118D; 5:51387625-51387625	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1049G>T; p.*350L; 5:51393609-51393609	lung	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.501G>A; p.Q167Q; 5:51389668-51389668	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.891C>T; p.F297F; 5:51391399-51391399	breast	carcinoma	Substitution - coding silent
c.520G>A; p.V174I; 5:51389687-51389687	skin	malignant_melanoma	Substitution - Missense
c.478+1G>T; p.?; 5:51387750-51387750	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.761A>C; p.K254T; 5:51389928-51389928	skin	malignant_melanoma	Substitution - Missense
c.230T>A; p.I77N; 5:51387501-51387501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.885C>T; p.S295S; 5:51391393-51391393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.333C>A; p.S111R; 5:51387604-51387604	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.390A>T; p.R130R; 5:51387661-51387661	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.492C>T; p.S164S; 5:51389659-51389659	skin	malignant_melanoma	Substitution - coding silent
c.763A>G; p.T255A; 5:51389930-51389930	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.159C>T; p.D53D; 5:51384671-51384671	large_intestine; colon	NS	Substitution - coding silent
c.1040T>C; p.I347T; 5:51393600-51393600	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.64A>G; p.N22D; 5:51384576-51384576	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.597C>T; p.C199C; 5:51389764-51389764	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.88C>A; p.L30M; 5:51384600-51384600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.564G>C; p.L188L; 5:51389731-51389731	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.680T>A; p.V227D; 5:51389847-51389847	central_nervous_system; thalamus	glioma; astrocytoma_Grade_II	Substitution - Missense
c.235T>A; p.C79S; 5:51387506-51387506	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.792C>T; p.P264P; 5:51391300-51391300	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.792C>T; p.P264P; 5:51391300-51391300	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.600C>A; p.Y200*; 5:51389767-51389767	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.632A>T; p.K211M; 5:51389799-51389799	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.D134N; 5:51387671-51387671	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.62G>A; p.G21D; 5:51384574-51384574	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.105T>A; p.D35E; 5:51384617-51384617	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.196T>A; p.Y66N; 5:51384708-51384708	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>T; p.G262*; 5:51391292-51391292	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.568G>A; p.E190K; 5:51389735-51389735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.254G>A; p.G85D; 5:51387525-51387525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.760A>G; p.K254E; 5:51389927-51389927	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.968C>T; p.S323F; 5:51393528-51393528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>A; p.D145N; 5:51387704-51387704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.933+5G>A; p.?; 5:51391446-51391446	liver	carcinoma	Unknown
c.288C>T; p.R96R; 5:51387559-51387559	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.288C>T; p.R96R; 5:51387559-51387559	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.940T>G; p.F314V; 5:51393500-51393500	NS	NS	Substitution - Missense
c.288C>T; p.R96R; 5:51387559-51387559	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.623C>T; p.A208V; 5:51389790-51389790	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.950G>A; p.G317E; 5:51393510-51393510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.997T>C; p.S333P; 5:51393557-51393557	breast	carcinoma	Substitution - Missense
c.44C>A; p.S15Y; 5:51384556-51384556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.945_947delAGA; p.E316delE; 5:51393505-51393507	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.525C>T; p.H175H; 5:51389692-51389692	skin	malignant_melanoma	Substitution - coding silent
c.945_947delAGA; p.E316delE; 5:51393505-51393507	pancreas	carcinoma; ductal_carcinoma	Deletion - In frame
c.189G>A; p.G63G; 5:51384701-51384701	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.416C>A; p.A139D; 5:51387687-51387687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.352G>A; p.D118N; 5:51387623-51387623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.273C>T; p.F91F; 5:51387544-51387544	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.589C>T; p.R197W; 5:51389756-51389756	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.508C>A; p.L170M; 5:51389675-51389675	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.900G>C; p.Q300H; 5:51391408-51391408	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.260G>C; p.S87T; 5:51387531-51387531	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.547C>A; p.R183S; 5:51389714-51389714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.794T>C; p.M265T; 5:51391302-51391302	kidney	other; neoplasm	Substitution - Missense
c.206G>T; p.R69I; 5:51384718-51384718	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.335G>A; p.R112H; 5:51387606-51387606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.529C>T; p.Q177*; 5:51389696-51389696	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.170C>T; p.T57I; 5:51384682-51384682	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.910G>C; p.D304H; 5:51391418-51391418	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.716G>A; p.R239Q; 5:51389883-51389883	breast	carcinoma	Substitution - Missense
c.362C>T; p.A121V; 5:51387633-51387633	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.197A>G; p.Y66C; 5:51384709-51384709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.413G>T; p.R138M; 5:51387684-51387684	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>A; p.R154R; 5:51387731-51387731	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.777G>A; p.G259G; 5:51391285-51391285	skin	malignant_melanoma	Substitution - coding silent
c.777G>A; p.G259G; 5:51391285-51391285	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.976A>G; p.S326G; 5:51393536-51393536	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.115C>T; p.H39Y; 5:51384627-51384627	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.506C>T; p.A169V; 5:51389673-51389673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.907A>C; p.I303L; 5:51391415-51391415	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.715C>T; p.R239*; 5:51389882-51389882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.60C>T; p.C20C; 5:51384572-51384572	liver	carcinoma	Substitution - coding silent
c.60C>T; p.C20C; 5:51384572-51384572	liver	carcinoma	Substitution - coding silent
c.355G>A; p.E119K; 5:51387626-51387626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.355G>A; p.E119K; 5:51387626-51387626	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>A; p.E119K; 5:51387626-51387626	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.562C>T; p.L188L; 5:51389729-51389729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.697C>T; p.R233W; 5:51389864-51389864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.629T>A; p.M210K; 5:51389796-51389796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1001A>G; p.Q334R; 5:51393561-51393561	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.699G>C; p.R233R; 5:51389866-51389866	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.785G>A; p.G262E; 5:51391293-51391293	skin	malignant_melanoma	Substitution - Missense
c.920C>T; p.A307V; 5:51391428-51391428	breast	carcinoma	Substitution - Missense
c.34C>G; p.R12G; 5:51384546-51384546	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.823G>T; p.G275C; 5:51391331-51391331	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.13G>A; p.G5R; 5:51383684-51383684	skin	malignant_melanoma	Substitution - Missense
c.13G>A; p.G5R; 5:51383684-51383684	liver	carcinoma	Substitution - Missense
c.13G>A; p.G5R; 5:51383684-51383684	liver	carcinoma	Substitution - Missense
c.896T>C; p.L299S; 5:51391404-51391404	urinary_tract; bladder	carcinoma	Substitution - Missense
c.791C>T; p.P264L; 5:51391299-51391299	skin	malignant_melanoma	Substitution - Missense
c.504A>G; p.P168P; 5:51389671-51389671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.504A>G; p.P168P; 5:51389671-51389671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.944C>T; p.S315L; 5:51393504-51393504	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.504A>G; p.P168P; 5:51389671-51389671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.553C>T; p.R185W; 5:51389720-51389720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.504A>G; p.P168P; 5:51389671-51389671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.504A>G; p.P168P; 5:51389671-51389671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.507C>T; p.A169A; 5:51389674-51389674	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.91A>T; p.R31W; 5:51384603-51384603	skin	malignant_melanoma	Substitution - Missense
c.856A>C; p.S286R; 5:51391364-51391364	skin	malignant_melanoma	Substitution - Missense
c.658C>T; p.L220F; 5:51389825-51389825	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.389G>C; p.R130P; 5:51387660-51387660	breast	carcinoma	Substitution - Missense
c.800C>T; p.A267V; 5:51391308-51391308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1020C>A; p.N340K; 5:51393580-51393580	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.747G>A; p.Q249Q; 5:51389914-51389914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.102G>A; p.P34P; 5:51384614-51384614	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.634G>C; p.E212Q; 5:51389801-51389801	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.511C>T; p.R171W; 5:51389678-51389678	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.547C>T; p.R183C; 5:51389714-51389714	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.773A>G; p.Q258R; 5:51391281-51391281	pancreas	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]