Entrez Gene

Basic Information
Gene ID	9557
Name	CHD1L
Synonymous	chromodomain helicase DNA binding protein 1-like;CHD1L;chromodomain helicase DNA binding protein 1-like
Definition	amplified in liver cancer 1\|amplified in liver cancer protein 1\|chromodomain-helicase-DNA-binding protein 1-like
Position	1q12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.2686G>A; p.V896M; 1:147295501-147295501	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1062G>A; p.K354K; 1:147268855-147268855	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.694G>C; p.D232H; 1:147264539-147264539	breast	carcinoma	Substitution - Missense
c.1392_1393insA; p.V466fs*16; 1:147276110-147276111	breast	carcinoma	Insertion - Frameshift
c.2218G>C; p.V740L; 1:147286497-147286497	breast	carcinoma	Substitution - Missense
c.178C>T; p.R60C; 1:147252673-147252673	breast	carcinoma	Substitution - Missense
c.2272C>T; p.R758*; 1:147287685-147287685	breast	carcinoma	Substitution - Nonsense
c.2556G>C; p.W852C; 1:147294458-147294458	breast	carcinoma	Substitution - Missense
c.1897C>T; p.R633W; 1:147285366-147285366	breast	carcinoma	Substitution - Missense
c.2092G>C; p.E698Q; 1:147286371-147286371	breast	carcinoma	Substitution - Missense
c.2273G>C; p.R758P; 1:147287686-147287686	breast	carcinoma	Substitution - Missense
c.1706-1G>A; p.?; 1:147284350-147284350	breast	carcinoma	Unknown
c.2570G>A; p.R857Q; 1:147294472-147294472	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2553C>T; p.N851N; 1:147294455-147294455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1027A>G; p.T343A; 1:147268820-147268820	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2578C>T; p.R860W; 1:147294480-147294480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1341T>A; p.N447K; 1:147275424-147275424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.487C>T; p.L163L; 1:147256555-147256555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1690G>A; p.D564N; 1:147280176-147280176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.185A>G; p.H62R; 1:147252680-147252680	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1972A>G; p.I658V; 1:147285441-147285441	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1479C>A; p.I493I; 1:147276197-147276197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.142T>C; p.S48P; 1:147252637-147252637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.208G>T; p.G70*; 1:147252703-147252703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1865C>T; p.P622L; 1:147285334-147285334	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1705+2T>G; p.?; 1:147280193-147280193	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Unknown
c.1093C>T; p.R365W; 1:147270939-147270939	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1377C>A; p.G459G; 1:147275460-147275460	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1260T>C; p.S420S; 1:147272271-147272271	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.938A>G; p.N313S; 1:147267468-147267468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.727G>A; p.E243K; 1:147264572-147264572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1749G>A; p.E583E; 1:147284394-147284394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.242C>T; p.T81I; 1:147254871-147254871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553C>A; p.L185M; 1:147259895-147259895	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.553C>A; p.L185M; 1:147259895-147259895	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.553C>A; p.L185M; 1:147259895-147259895	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1557A>T; p.K519N; 1:147280043-147280043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.707G>A; p.R236H; 1:147264552-147264552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.707G>A; p.R236H; 1:147264552-147264552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.707G>A; p.R236H; 1:147264552-147264552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2123A>C; p.D708A; 1:147286402-147286402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2002G>A; p.A668T; 1:147285471-147285471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1808T>C; p.L603S; 1:147284453-147284453	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1940G>A; p.R647K; 1:147285409-147285409	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>C; p.E112Q; 1:147254963-147254963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369C>T; p.R457C; 1:147275452-147275452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.298A>C; p.I100L; 1:147254927-147254927	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2387A>G; p.D796G; 1:147291548-147291548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2170G>A; p.V724I; 1:147286449-147286449	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1166G>A; p.S389N; 1:147272177-147272177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2572C>A; p.L858I; 1:147294474-147294474	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>A; p.V720I; 1:147286437-147286437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.502T>C; p.W168R; 1:147259844-147259844	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2365G>T; p.E789*; 1:147291526-147291526	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2365G>T; p.E789*; 1:147291526-147291526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.579C>T; p.F193F; 1:147264424-147264424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2422C>T; p.R808C; 1:147293638-147293638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>T; p.F193F; 1:147264424-147264424	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.956G>A; p.R319Q; 1:147267486-147267486	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.956G>A; p.R319Q; 1:147267486-147267486	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.956G>A; p.R319Q; 1:147267486-147267486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955C>T; p.R319*; 1:147267485-147267485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2417G>A; p.R806H; 1:147293633-147293633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1556A>G; p.K519R; 1:147280042-147280042	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.140G>A; p.R47H; 1:147252635-147252635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661C>T; p.A554V; 1:147280147-147280147	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1705+2T>G; p.?; 1:147280193-147280193	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1422T>G; p.T474T; 1:147276140-147276140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2148C>T; p.S716S; 1:147286427-147286427	liver	carcinoma	Substitution - coding silent
c.2615+5C>A; p.?; 1:147294522-147294522	liver	carcinoma	Unknown
c.2615+5C>A; p.?; 1:147294522-147294522	liver	carcinoma	Unknown
c.553C>A; p.L185M; 1:147259895-147259895	liver	carcinoma	Substitution - Missense
c.553C>A; p.L185M; 1:147259895-147259895	liver	carcinoma	Substitution - Missense
c.370G>A; p.V124I; 1:147255835-147255835	liver	carcinoma	Substitution - Missense
c.2589G>T; p.L863L; 1:147294491-147294491	liver	carcinoma	Substitution - coding silent
c.2589G>T; p.L863L; 1:147294491-147294491	liver	carcinoma	Substitution - coding silent
c.1169A>T; p.Y390F; 1:147272180-147272180	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1033G>T; p.A345S; 1:147268826-147268826	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1212G>A; p.L404L; 1:147272223-147272223	liver	carcinoma	Substitution - coding silent
c.1493A>G; p.H498R; 1:147276211-147276211	liver	carcinoma	Substitution - Missense
c.1832G>A; p.R611Q; 1:147284477-147284477	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2675C>T; p.S892L; 1:147295490-147295490	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1945G>C; p.E649Q; 1:147285414-147285414	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.934C>T; p.Q312*; 1:147267464-147267464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2521C>T; p.P841S; 1:147294423-147294423	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2386G>A; p.D796N; 1:147291547-147291547	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2386G>A; p.D796N; 1:147291547-147291547	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.359G>T; p.G120V; 1:147255824-147255824	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2461G>C; p.E821Q; 1:147293677-147293677	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.114_115insG; p.W39fs*34; 1:147242817-147242818	lung	carcinoma; non_small_cell_carcinoma	Insertion - Frameshift
c.2521C>A; p.P841T; 1:147294423-147294423	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1461G>A; p.L487L; 1:147276179-147276179	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.128-2A>G; p.?; 1:147252621-147252621	lung	carcinoma; small_cell_carcinoma	Unknown
c.2433C>G; p.V811V; 1:147293649-147293649	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2310G>T; p.G770G; 1:147287723-147287723	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2121_2122GG>AT; p.D708Y; 1:147286400-147286401	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1777G>C; p.E593Q; 1:147284422-147284422	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1660G>A; p.A554T; 1:147280146-147280146	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1660G>A; p.A554T; 1:147280146-147280146	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2273G>A; p.R758Q; 1:147287686-147287686	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1959G>A; p.K653K; 1:147285428-147285428	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1386G>A; p.K462K; 1:147276104-147276104	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2209G>T; p.V737L; 1:147286488-147286488	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.732T>G; p.S244S; 1:147264577-147264577	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2422C>T; p.R808C; 1:147293638-147293638	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.140G>A; p.R47H; 1:147252635-147252635	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1684A>T; p.S562C; 1:147280170-147280170	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2616-1G>A; p.?; 1:147295430-147295430	ovary	carcinoma; serous_carcinoma	Unknown
c.1806T>C; p.L602L; 1:147284451-147284451	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1307T>C; p.V436A; 1:147275390-147275390	pancreas	carcinoma	Substitution - Missense
c.529C>T; p.H177Y; 1:147259871-147259871	pancreas	carcinoma	Substitution - Missense
c.2430T>C; p.N810N; 1:147293646-147293646	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.537G>T; p.L179F; 1:147259879-147259879	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.194A>T; p.N65I; 1:147252689-147252689	skin	malignant_melanoma	Substitution - Missense
c.1074C>T; p.F358F; 1:147268867-147268867	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1835C>T; p.S612L; 1:147284480-147284480	skin	malignant_melanoma	Substitution - Missense
c.308C>T; p.P103L; 1:147254937-147254937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.276A>T; p.L92F; 1:147254905-147254905	skin	malignant_melanoma	Substitution - Missense
c.511C>T; p.L171F; 1:147259853-147259853	skin	malignant_melanoma	Substitution - Missense
c.1690G>A; p.D564N; 1:147280176-147280176	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1682G>A; p.G561E; 1:147280168-147280168	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2279C>T; p.A760V; 1:147287692-147287692	skin	malignant_melanoma	Substitution - Missense
c.2279C>T; p.A760V; 1:147287692-147287692	skin	malignant_melanoma	Substitution - Missense
c.373A>G; p.T125A; 1:147255838-147255838	skin	malignant_melanoma	Substitution - Missense
c.2422C>T; p.R808C; 1:147293638-147293638	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1910C>T; p.P637L; 1:147285379-147285379	skin	malignant_melanoma	Substitution - Missense
c.1018G>T; p.D340Y; 1:147268811-147268811	skin	malignant_melanoma	Substitution - Missense
c.482C>T; p.S161L; 1:147256550-147256550	skin	malignant_melanoma	Substitution - Missense
c.2608A>G; p.T870A; 1:147294510-147294510	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.300_305delTCTTTG; p.L101_C102delLC; 1:147254929-147254934	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.1834T>C; p.S612P; 1:147284479-147284479	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2341C>A; p.L781I; 1:147291502-147291502	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2021T>C; p.M674T; 1:147286300-147286300	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1160-3A>G; p.?; 1:147272168-147272168	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.313T>G; p.S105A; 1:147254942-147254942	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1432A>T; p.I478L; 1:147276150-147276150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1550T>C; p.I517T; 1:147280036-147280036	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2525G>A; p.R842H; 1:147294427-147294427	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1832G>A; p.R611Q; 1:147284477-147284477	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.697T>A; p.F233I; 1:147264542-147264542	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1583C>A; p.S528Y; 1:147280069-147280069	thyroid	other; neoplasm	Substitution - Missense
c.902T>G; p.F301C; 1:147267432-147267432	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.902T>G; p.F301C; 1:147267432-147267432	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2221delG; p.D741fs*32; 1:147286500-147286500	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2433C>G; p.V811V; 1:147293649-147293649	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1366C>A; p.H456N; 1:147275449-147275449	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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