Entrez Gene

Basic Information
Gene ID	1406
Name	CRX
Synonymous	cone-rod homeobox;CRX;cone-rod homeobox
Definition	cone-rod homeobox protein\|orthodenticle homeobox 3
Position	19q13.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.581C>G; p.T194S; 19:47839648-47839648	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.V242M; 19:47839791-47839791	prostate	carcinoma	Substitution - Missense
c.724G>A; p.V242M; 19:47839791-47839791	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.422C>T; p.S141F; 19:47839489-47839489	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.526C>G; p.R176G; 19:47839593-47839593	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.422C>T; p.S141F; 19:47839489-47839489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.608C>T; p.S203F; 19:47839675-47839675	urinary_tract; bladder	carcinoma	Substitution - Missense
c.608C>T; p.S203F; 19:47839675-47839675	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.118C>T; p.R40W; 19:47836260-47836260	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>A; p.A260T; 19:47839845-47839845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>A; p.A260T; 19:47839845-47839845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>A; p.A260T; 19:47839845-47839845	urinary_tract; bladder	carcinoma	Substitution - Missense
c.104delC; p.R37fs*38; 19:47836246-47836246	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.502G>A; p.E168K; 19:47839569-47839569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.892A>C; p.I298L; 19:47839959-47839959	thyroid	other; neoplasm	Substitution - Missense
c.319delC; p.P108fs*79; 19:47839386-47839386	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.363G>A; p.A121A; 19:47839430-47839430	pancreas	carcinoma	Substitution - coding silent
c.464C>T; p.T155M; 19:47839531-47839531	central_nervous_system; brain	glioma	Substitution - Missense
c.62C>T; p.P21L; 19:47834505-47834505	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.877G>T; p.A293S; 19:47839944-47839944	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.370T>C; p.S124P; 19:47839437-47839437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.612C>T; p.S204S; 19:47839679-47839679	skin	malignant_melanoma	Substitution - coding silent
c.451G>T; p.G151C; 19:47839518-47839518	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.612C>T; p.S204S; 19:47839679-47839679	skin	malignant_melanoma	Substitution - coding silent
c.790G>A; p.V264M; 19:47839857-47839857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.124G>A; p.E42K; 19:47836266-47836266	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.37G>A; p.V13I; 19:47834480-47834480	prostate	adenoma	Substitution - Missense
c.553T>C; p.S185P; 19:47839620-47839620	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.685C>A; p.L229I; 19:47839752-47839752	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.232C>G; p.L78V; 19:47836374-47836374	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.618C>T; p.S206S; 19:47839685-47839685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.618C>T; p.S206S; 19:47839685-47839685	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.550C>A; p.P184T; 19:47839617-47839617	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.834C>T; p.F278F; 19:47839901-47839901	skin	malignant_melanoma	Substitution - coding silent
c.663C>A; p.Y221*; 19:47839730-47839730	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.705delC; p.L237fs*>63; 19:47839772-47839772	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.734C>T; p.S245F; 19:47839801-47839801	skin	malignant_melanoma	Substitution - Missense
c.578T>A; p.M193K; 19:47839645-47839645	thyroid	other; neoplasm	Substitution - Missense
c.711C>T; p.L237L; 19:47839778-47839778	skin	malignant_melanoma	Substitution - coding silent
c.154G>T; p.E52*; 19:47836296-47836296	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.649G>A; p.G217S; 19:47839716-47839716	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.742C>T; p.Q248*; 19:47839809-47839809	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.789C>T; p.P263P; 19:47839856-47839856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.858G>A; p.L286L; 19:47839925-47839925	skin	malignant_melanoma	Substitution - coding silent
c.789C>T; p.P263P; 19:47839856-47839856	skin	malignant_melanoma	Substitution - coding silent
c.856C>T; p.L286L; 19:47839923-47839923	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.268C>T; p.R90W; 19:47839335-47839335	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.867G>A; p.K289K; 19:47839934-47839934	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.671C>T; p.P224L; 19:47839738-47839738	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.362C>T; p.A121V; 19:47839429-47839429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.591G>A; p.P197P; 19:47839658-47839658	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.657delC; p.Y221fs*9; 19:47839724-47839724	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.591G>A; p.P197P; 19:47839658-47839658	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.377G>T; p.R126I; 19:47839444-47839444	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>A; p.E53K; 19:47836299-47836299	skin	malignant_melanoma	Substitution - Missense
c.157G>A; p.E53K; 19:47836299-47836299	skin	malignant_melanoma	Substitution - Missense
c.565G>A; p.A189T; 19:47839632-47839632	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.565G>A; p.A189T; 19:47839632-47839632	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.210G>A; p.E70E; 19:47836352-47836352	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.371C>T; p.S124F; 19:47839438-47839438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.438G>A; p.L146L; 19:47839505-47839505	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.21G>A; p.P7P; 19:47834464-47834464	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.460A>G; p.T154A; 19:47839527-47839527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.641A>G; p.Y214C; 19:47839708-47839708	liver	carcinoma	Substitution - Missense
c.641A>G; p.Y214C; 19:47839708-47839708	liver	carcinoma	Substitution - Missense
c.123G>A; p.R41R; 19:47836265-47836265	liver	carcinoma	Substitution - coding silent
c.123G>A; p.R41R; 19:47836265-47836265	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.617C>T; p.S206F; 19:47839684-47839684	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.617C>T; p.S206F; 19:47839684-47839684	urinary_tract; bladder	carcinoma	Substitution - Missense
c.617C>T; p.S206F; 19:47839684-47839684	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.293G>A; p.R98Q; 19:47839360-47839360	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.434C>A; p.P145H; 19:47839501-47839501	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.434C>A; p.P145H; 19:47839501-47839501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.434C>A; p.P145H; 19:47839501-47839501	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.586G>T; p.A196S; 19:47839653-47839653	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.369G>A; p.T123T; 19:47839436-47839436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.522G>A; p.A174A; 19:47839589-47839589	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.9G>A; p.A3A; 19:47834452-47834452	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.726G>T; p.V242V; 19:47839793-47839793	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.551C>T; p.P184L; 19:47839618-47839618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.706C>G; p.P236A; 19:47839773-47839773	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.272G>T; p.R91M; 19:47839339-47839339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.598G>A; p.A200T; 19:47839665-47839665	breast	carcinoma	Substitution - Missense
c.598G>A; p.A200T; 19:47839665-47839665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.598G>A; p.A200T; 19:47839665-47839665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.338A>G; p.K113R; 19:47839405-47839405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.455C>T; p.S152F; 19:47839522-47839522	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.746C>T; p.S249F; 19:47839813-47839813	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.585C>T; p.Y195Y; 19:47839652-47839652	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.133A>G; p.T45A; 19:47836275-47836275	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.133A>G; p.T45A; 19:47836275-47836275	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.563C>T; p.S188F; 19:47839630-47839630	urinary_tract; bladder	carcinoma	Substitution - Missense
c.563C>T; p.S188F; 19:47839630-47839630	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.43G>A; p.A15T; 19:47834486-47834486	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.564C>T; p.S188S; 19:47839631-47839631	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.70G>A; p.D24N; 19:47834513-47834513	skin	malignant_melanoma	Substitution - Missense
c.815C>A; p.P272H; 19:47839882-47839882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>T; p.G148C; 19:47839509-47839509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.719C>T; p.P240L; 19:47839786-47839786	skin	malignant_melanoma	Substitution - Missense
c.381C>A; p.P127P; 19:47839448-47839448	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.388G>A; p.D130N; 19:47839455-47839455	urinary_tract; bladder	carcinoma	Substitution - Missense
c.645C>A; p.F215L; 19:47839712-47839712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.170T>A; p.L57Q; 19:47836312-47836312	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.423C>A; p.S141S; 19:47839490-47839490	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.206G>A; p.R69H; 19:47836348-47836348	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.206G>A; p.R69H; 19:47836348-47836348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.664C>A; p.L222I; 19:47839731-47839731	breast	carcinoma	Substitution - Missense
c.707C>T; p.P236L; 19:47839774-47839774	skin	malignant_melanoma	Substitution - Missense
c.510T>A; p.P170P; 19:47839577-47839577	liver	carcinoma	Substitution - coding silent
c.510T>A; p.P170P; 19:47839577-47839577	liver	carcinoma	Substitution - coding silent
c.676G>A; p.V226M; 19:47839743-47839743	breast	carcinoma	Substitution - Missense
c.632C>T; p.P211L; 19:47839699-47839699	skin	malignant_melanoma	Substitution - Missense
c.632C>T; p.P211L; 19:47839699-47839699	prostate	carcinoma	Substitution - Missense
c.270G>T; p.R90R; 19:47839337-47839337	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.770G>T; p.S257I; 19:47839837-47839837	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]