CR2Cancer

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF07533 BRK domain
PF00385 Chromo (CHRromatin Organisation MOdifier) domain
PF00271 Helicase conserved C-terminal domain
PF00176 SNF2 family N-terminal domain

Function

DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription.

Classification

Class	Modification	Substrate	Product	PubMed
Chromatin remodelling	#	H1	#	18378692

> Gene Ontology [ TOP ]
Biological Process	GO:0001701 in utero embryonic development GO:0006338 chromatin remodeling GO:0006359 regulation of transcription from RNA polymerase III promoter GO:0006383 transcription from RNA polymerase III promoter GO:0016055 Wnt signaling pathway GO:0030111 regulation of Wnt signaling pathway GO:0030178 negative regulation of Wnt signaling pathway GO:0032392 DNA geometric change GO:0032508 DNA duplex unwinding GO:0043044 ATP-dependent chromatin remodeling GO:0044346 fibroblast apoptotic process GO:0045945 positive regulation of transcription from RNA polymerase III promoter GO:0048565 digestive tract development GO:0055123 digestive system development GO:0060070 canonical Wnt signaling pathway GO:0060828 regulation of canonical Wnt signaling pathway GO:0071103 DNA conformation change GO:0090090 negative regulation of canonical Wnt signaling pathway GO:0198738 cell-cell signaling by wnt GO:2000269 regulation of fibroblast apoptotic process GO:2000270 negative regulation of fibroblast apoptotic process
Molecular Function	GO:0002039 p53 binding GO:0003678 DNA helicase activity GO:0003682 chromatin binding GO:0004386 helicase activity GO:0008013 beta-catenin binding GO:0008094 DNA-dependent ATPase activity GO:0016887 ATPase activity GO:0035064 methylated histone binding GO:0042393 histone binding GO:0042623 ATPase activity, coupled GO:0070016 armadillo repeat domain binding
Cellular Component	GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0044665 MLL1/2 complex GO:0071339 MLL1 complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04310 Wnt signaling pathway
Reactome	R-HSA-3769402: Deactivation of the beta-catenin transactivating complex R-HSA-162582: Signal Transduction R-HSA-195721: Signaling by Wnt R-HSA-201681: TCF dependent signaling in response to WNT

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM319439	c.1097A>T	p.Q366L	Substitution - Missense	Lung
COSM416246	c.4592G>A	p.R1531H	Substitution - Missense	Urinary_tract
COSM3885831	c.6472C>T	p.R2158C	Substitution - Missense	Skin
COSM5705660	c.4402G>T	p.G1468*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5971100	c.6931C>T	p.L2311L	Substitution - coding silent	Upper_aerodigestive_tract
COSM3494911	c.6791C>A	p.T2264K	Substitution - Missense	Skin
COSM4049861	c.1506C>T	p.R502R	Substitution - coding silent	Stomach
COSM954448	c.1952G>A	p.R651Q	Substitution - Missense	Breast
COSM954417	c.6939C>T	p.T2313T	Substitution - coding silent	Endometrium
COSM416247	c.5179G>A	p.E1727K	Substitution - Missense	Urinary_tract
COSM2150510	c.875_876delAG	p.Q292fs*128	Deletion - Frameshift	Central_nervous_system
COSM5578300	c.3388C>T	p.R1130C	Substitution - Missense	Skin
COSM954422	c.5632A>G	p.I1878V	Substitution - Missense	Endometrium
COSM4441975	c.406A>G	p.M136V	Substitution - Missense	Large_intestine
COSM4403589	c.2437G>A	p.E813K	Substitution - Missense	Skin
COSM1368987	c.4474C>T	p.L1492L	Substitution - coding silent	Large_intestine
COSM3814469	c.5565C>T	p.R1855R	Substitution - coding silent	Breast
COSM5478654	c.4459C>A	p.L1487I	Substitution - Missense	Large_intestine
COSM954454	c.858C>T	p.R286R	Substitution - coding silent	Endometrium
COSM4602784	c.5760G>C	p.L1920F	Substitution - Missense	Upper_aerodigestive_tract
COSM4049841	c.6104G>A	p.R2035Q	Substitution - Missense	Stomach
COSM1290274	c.5447A>G	p.E1816G	Substitution - Missense	Large_intestine
COSM1368989	c.4429C>T	p.R1477*	Substitution - Nonsense	Large_intestine
COSM50254	c.2048C>T	p.A683V	Substitution - Missense	Large_intestine
COSM5551436	c.3108T>G	p.D1036E	Substitution - Missense	Prostate
COSM954424	c.5335C>T	p.R1779C	Substitution - Missense	Endometrium
COSM4167447	c.1753_1754insA	p.Y585fs*1	Insertion - Frameshift	Central_nervous_system
COSM3677927	c.4213A>C	p.T1405P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM215581	c.3725G>A	p.R1242Q	Substitution - Missense	Central_nervous_system
COSM1368975	c.7112_7113insA	p.N2371fs*2	Insertion - Frameshift	Large_intestine
COSM5444886	c.5927C>T	p.S1976F	Substitution - Missense	Oesophagus
COSM3386461	c.4298G>A	p.R1433H	Substitution - Missense	Pancreas
COSM4445229	c.4562delA	p.N1521fs*18	Deletion - Frameshift	Large_intestine
COSM3737265	c.3450T>A	p.H1150Q	Substitution - Missense	Soft_tissue
COSM4503927	c.6516C>T	p.L2172L	Substitution - coding silent	Skin
COSM1369020	c.2632T>A	p.F878I	Substitution - Missense	Large_intestine
COSM4622915	c.6686C>T	p.A2229V	Substitution - Missense	Large_intestine
COSM697533	c.2161C>T	p.P721S	Substitution - Missense	Lung
COSM5053855	c.3396C>T	p.A1132A	Substitution - coding silent	Stomach
COSM4969201	c.634C>T	p.R212*	Substitution - Nonsense	Central_nervous_system
COSM2029959	c.6141delC	p.S2048fs*28	Deletion - Frameshift	Large_intestine
COSM4672098	c.3792G>A	p.E1264E	Substitution - coding silent	Large_intestine
COSM4169924	c.2463G>A	p.W821*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3793565	c.3996G>A	p.Q1332Q	Substitution - coding silent	Urinary_tract
COSM5633291	c.775G>C	p.A259P	Substitution - Missense	Oesophagus
COSM4049853	c.2535G>A	p.Q845Q	Substitution - coding silent	Stomach
COSM5493137	c.3322delA	p.I1108fs*2	Deletion - Frameshift	Biliary_tract
COSM4049843	c.5979T>G	p.T1993T	Substitution - coding silent	Stomach
COSM697531	c.1717-1G>A	p.?	Unknown	Lung
COSM432838	c.3510C>T	p.I1170I	Substitution - coding silent	Breast
COSM4169924	c.2463G>A	p.W821*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4147993	c.6886C>A	p.L2296M	Substitution - Missense	Thyroid
COSM3494956	c.870C>T	p.V290V	Substitution - coding silent	Skin
COSM4404192	c.3292C>T	p.P1098S	Substitution - Missense	Skin
COSM5913562	c.1968+5G>A	p.?	Unknown	Skin
COSM1368977	c.7112delA	p.N2371fs*6	Deletion - Frameshift	Large_intestine
COSM1607483	c.4238A>G	p.D1413G	Substitution - Missense	Liver
COSM4049871	c.852G>A	p.S284S	Substitution - coding silent	Stomach
COSM256617	c.4179T>G	p.N1393K	Substitution - Missense	Large_intestine
COSM5647568	c.3896C>G	p.S1299C	Substitution - Missense	Oesophagus
COSM4494747	c.4397C>T	p.S1466F	Substitution - Missense	Skin
COSM3814475	c.4514G>T	p.W1505L	Substitution - Missense	Breast
COSM4049865	c.1417C>T	p.R473C	Substitution - Missense	Skin
COSM5659934	c.2707G>T	p.E903*	Substitution - Nonsense	Soft_tissue
COSM1368983	c.5713delC	p.L1905fs*30	Deletion - Frameshift	Large_intestine
COSM4049865	c.1417C>T	p.R473C	Substitution - Missense	Stomach
COSM5551436	c.3108T>G	p.D1036E	Substitution - Missense	Prostate
COSM1177246	c.2317C>T	p.R773*	Substitution - Nonsense	Endometrium
COSM3814471	c.5564G>A	p.R1855H	Substitution - Missense	Breast
COSM296466	c.7496C>A	p.P2499H	Substitution - Missense	Oesophagus
COSM5718719	c.3358C>T	p.P1120S	Substitution - Missense	Skin
COSM5900586	c.6520G>A	p.G2174R	Substitution - Missense	Skin
COSM5642488	c.6888G>C	p.L2296L	Substitution - coding silent	Oesophagus
COSM296466	c.7496C>A	p.P2499H	Substitution - Missense	Large_intestine
COSM3377366	c.3533G>A	p.R1178H	Substitution - Missense	Pancreas
COSM1607485	c.3882+7C>T	p.?	Unknown	Liver
COSM1201015	c.5608G>A	p.D1870N	Substitution - Missense	Liver
COSM4445225	c.7501C>T	p.P2501S	Substitution - Missense	Large_intestine
COSM954440	c.3274C>T	p.R1092C	Substitution - Missense	Soft_tissue
COSM1733845	c.7111_7112insA	p.N2371fs*2	Insertion - Frameshift	Pancreas
COSM4049869	c.1004C>T	p.A335V	Substitution - Missense	Stomach
COSM5004912	c.1320G>A	p.S440S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5482889	c.7308A>T	p.G2436G	Substitution - coding silent	Large_intestine
COSM1369026	c.2263C>T	p.P755S	Substitution - Missense	Large_intestine
COSM352514	c.3579C>T	p.D1193D	Substitution - coding silent	Lung
COSM296466	c.7496C>A	p.P2499H	Substitution - Missense	Small_intestine
COSM3936469	c.292C>T	p.Q98*	Substitution - Nonsense	Oesophagus
COSM5847801	c.4418G>A	p.R1473H	Substitution - Missense	Prostate
COSM954439	c.3324C>T	p.I1108I	Substitution - coding silent	Endometrium
COSM3494944	c.2368C>T	p.R790C	Substitution - Missense	Skin
COSM4615132	c.1752delA	p.K584fs*8	Deletion - Frameshift	Large_intestine
COSM352513	c.5050_5051GG>TT	p.G1684>?	Complex	Lung
COSM394637	c.5975G>A	p.R1992H	Substitution - Missense	Lung
COSM3494950	c.2284G>A	p.E762K	Substitution - Missense	Skin
COSM954414	c.7588C>T	p.R2530W	Substitution - Missense	Endometrium
COSM5982183	c.5404G>A	p.E1802K	Substitution - Missense	Upper_aerodigestive_tract
COSM954444	c.2276G>A	p.S759N	Substitution - Missense	Endometrium
COSM4493818	c.4218C>T	p.R1406R	Substitution - coding silent	Skin
COSM5077815	c.2070_2080>GA	p.D691_R693delDKR	Deletion - In frame	Large_intestine
COSM3968730	c.6114A>C	p.P2038P	Substitution - coding silent	Central_nervous_system
COSM3401227	c.2487-2A>G	p.?	Unknown	Central_nervous_system
COSM279875	c.3068C>T	p.A1023V	Substitution - Missense	Large_intestine
COSM954427	c.5222C>T	p.P1741L	Substitution - Missense	Endometrium
COSM4896164	c.1900G>A	p.E634K	Substitution - Missense	Skin
COSM2030160	c.1387C>T	p.R463W	Substitution - Missense	Large_intestine
COSM3772894	c.3937G>A	p.A1313T	Substitution - Missense	Pancreas
COSM954413	c.7652C>A	p.S2551Y	Substitution - Missense	Endometrium
COSM2030011	c.4910T>G	p.V1637G	Substitution - Missense	Large_intestine
COSM4639383	c.7620C>T	p.D2540D	Substitution - coding silent	Large_intestine
COSM697530	c.1646C>T	p.S549L	Substitution - Missense	Lung
COSM4049859	c.1520C>T	p.A507V	Substitution - Missense	Stomach
COSM3494926	c.4062+1G>A	p.?	Unknown	Skin
COSM223672	c.5101G>A	p.G1701S	Substitution - Missense	Skin
COSM1248230	c.5574C>T	p.C1858C	Substitution - coding silent	Stomach
COSM3955893	c.6236C>G	p.S2079*	Substitution - Nonsense	Lung
COSM5520728	c.4828A>G	p.I1610V	Substitution - Missense	Biliary_tract
COSM4538181	c.2511G>A	p.E837E	Substitution - coding silent	Skin
COSM4445223	c.7504delC	p.H2502fs*10	Deletion - Frameshift	Large_intestine
COSM697532	c.1795G>A	p.E599K	Substitution - Missense	Lung
COSM3494915	c.6486C>T	p.N2162N	Substitution - coding silent	Skin
COSM4049855	c.2093T>G	p.L698*	Substitution - Nonsense	Stomach
COSM4879756	c.5701T>A	p.L1901I	Substitution - Missense	Oesophagus
COSM329250	c.5488C>T	p.R1830C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM954435	c.3916C>A	p.L1306I	Substitution - Missense	Endometrium
COSM1661130	c.1405A>G	p.I469V	Substitution - Missense	Kidney
COSM1201012	c.5623A>G	p.I1875V	Substitution - Missense	Large_intestine
COSM6001098	c.6873G>T	p.K2291N	Substitution - Missense	Prostate
COSM5788312	c.3381C>G	p.A1127A	Substitution - coding silent	Breast
COSM5971102	c.1030G>C	p.V344L	Substitution - Missense	Upper_aerodigestive_tract
COSM954443	c.2605T>C	p.S869P	Substitution - Missense	Endometrium
COSM296466	c.7496C>A	p.P2499H	Substitution - Missense	Large_intestine
COSM954445	c.2227-2A>G	p.?	Unknown	Endometrium
COSM4049835	c.6816G>A	p.A2272A	Substitution - coding silent	Stomach
COSM1201011	c.6841C>T	p.P2281S	Substitution - Missense	Large_intestine
COSM1368977	c.7112delA	p.N2371fs*6	Deletion - Frameshift	Large_intestine
COSM394637	c.5975G>A	p.R1992H	Substitution - Missense	Skin
COSM1368983	c.5713delC	p.L1905fs*30	Deletion - Frameshift	Large_intestine
COSM1368975	c.7112_7113insA	p.N2371fs*2	Insertion - Frameshift	Breast
COSM1241006	c.6130C>T	p.R2044*	Substitution - Nonsense	Oesophagus
COSM5382061	c.825G>A	p.L275L	Substitution - coding silent	Skin
COSM1180805	c.5585delC	p.P1862fs*29	Deletion - Frameshift	Large_intestine
COSM4049833	c.7001G>A	p.R2334Q	Substitution - Missense	Stomach
COSM1369009	c.3307G>T	p.G1103C	Substitution - Missense	Large_intestine
COSM1159197	c.4044A>G	p.K1348K	Substitution - coding silent	Pancreas
COSM1248227	c.3948G>C	p.M1316I	Substitution - Missense	Stomach
COSM2029974	c.5998C>T	p.R2000C	Substitution - Missense	Large_intestine
COSM3955900	c.537G>T	p.Q179H	Substitution - Missense	Lung
COSM4831498	c.6457G>C	p.E2153Q	Substitution - Missense	Cervix
COSM3968732	c.4802G>A	p.G1601E	Substitution - Missense	Central_nervous_system
COSM4150745	c.102G>A	p.E34E	Substitution - coding silent	Kidney
COSM4445239	c.6112C>A	p.P2038T	Substitution - Missense	Large_intestine
COSM1730810	c.5783G>C	p.R1928P	Substitution - Missense	Liver
COSM3987568	c.5447A>T	p.E1816V	Substitution - Missense	Kidney
COSM3494936	c.3336C>T	p.F1112F	Substitution - coding silent	Skin
COSM5382056	c.6126G>A	p.E2042E	Substitution - coding silent	Skin
COSM3494930	c.3943A>T	p.I1315F	Substitution - Missense	Skin
COSM3814467	c.6369C>T	p.L2123L	Substitution - coding silent	Breast
COSM221406	c.1213C>T	p.Q405*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM954415	c.7060C>A	p.L2354I	Substitution - Missense	Endometrium
COSM4456319	c.1005C>T	p.A335A	Substitution - coding silent	Skin
COSM1248225	c.4174-1G>T	p.?	Unknown	Oesophagus
COSM1369039	c.1051_1052insA	p.I351fs*70	Insertion - Frameshift	Large_intestine
COSM4506735	c.7280C>T	p.S2427F	Substitution - Missense	Skin
COSM1607485	c.3882+7C>T	p.?	Unknown	Liver
COSM5749243	c.1108A>C	p.T370P	Substitution - Missense	Genital_tract
COSM1201014	c.3578A>C	p.D1193A	Substitution - Missense	Large_intestine
COSM954434	c.3932C>T	p.A1311V	Substitution - Missense	Endometrium
COSM4147994	c.172G>A	p.V58M	Substitution - Missense	Oesophagus
COSM5558777	c.5357T>A	p.L1786Q	Substitution - Missense	Prostate
COSM5705658	c.7042G>T	p.A2348S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM954446	c.2098C>T	p.R700C	Substitution - Missense	Endometrium
COSM3955897	c.3518+5G>A	p.?	Unknown	Lung
COSM469790	c.1733G>A	p.R578H	Substitution - Missense	Cervix
COSM5578300	c.3388C>T	p.R1130C	Substitution - Missense	Skin
COSM3494957	c.520C>T	p.H174Y	Substitution - Missense	Skin
COSM1300486	c.1658C>G	p.S553*	Substitution - Nonsense	Urinary_tract
COSM77464	c.2873G>A	p.C958Y	Substitution - Missense	Ovary
COSM1159571	c.1570G>A	p.A524T	Substitution - Missense	Pancreas
COSM4833224	c.4648G>C	p.D1550H	Substitution - Missense	Cervix
COSM4911148	c.6935A>G	p.E2312G	Substitution - Missense	Liver
COSM459203	c.4438G>C	p.E1480Q	Substitution - Missense	Cervix
COSM4884751	c.2795C>G	p.S932*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM469785	c.7713T>C	p.A2571A	Substitution - coding silent	Kidney
COSM3885833	c.4982G>C	p.G1661A	Substitution - Missense	Skin
COSM1290274	c.5447A>G	p.E1816G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4589653	c.3800_3801insGA	p.F1268fs*19	Insertion - Frameshift	Prostate
COSM954432	c.4257C>A	p.F1419L	Substitution - Missense	Endometrium
COSM4838269	c.169G>A	p.D57N	Substitution - Missense	Cervix
COSM697537	c.2680G>T	p.A894S	Substitution - Missense	Lung
COSM26938	c.2405_2406insTA	p.H803fs*83	Insertion - Frameshift	Upper_aerodigestive_tract
COSM3494952	c.1842C>T	p.L614L	Substitution - coding silent	Bone
COSM459201	c.3991G>C	p.D1331H	Substitution - Missense	Cervix
COSM3494928	c.3982G>A	p.E1328K	Substitution - Missense	Skin
COSM239319	c.929T>A	p.L310Q	Substitution - Missense	Prostate
COSM216318	c.1424G>A	p.R475H	Substitution - Missense	Pancreas
COSM4853317	c.6225G>C	p.L2075F	Substitution - Missense	Cervix
COSM1369001	c.3450T>G	p.H1150Q	Substitution - Missense	Large_intestine
COSM1607480	c.6906A>T	p.E2302D	Substitution - Missense	Liver
COSM2029992	c.5563C>T	p.R1855C	Substitution - Missense	Large_intestine
COSM4049847	c.4405C>T	p.R1469C	Substitution - Missense	Adrenal_gland
COSM3793569	c.1038G>A	p.Q346Q	Substitution - coding silent	Urinary_tract
COSM182860	c.6499G>A	p.V2167I	Substitution - Missense	Large_intestine
COSM5700371	c.1357G>C	p.E453Q	Substitution - Missense	Soft_tissue
COSM4188291	c.2090A>T	p.K697I	Substitution - Missense	Kidney
COSM4443858	c.4384C>T	p.R1462*	Substitution - Nonsense	Large_intestine
COSM697534	c.2606C>T	p.S869F	Substitution - Missense	Lung
COSM4445233	c.7486C>A	p.H2496N	Substitution - Missense	Large_intestine
COSM5382060	c.1690C>T	p.R564*	Substitution - Nonsense	Skin
COSM5570901	c.6135A>G	p.V2045V	Substitution - coding silent	Prostate
COSM5784259	c.5305G>C	p.A1769P	Substitution - Missense	Breast
COSM4652461	c.3478C>T	p.R1160C	Substitution - Missense	Large_intestine
COSM1369003	c.3389G>A	p.R1130H	Substitution - Missense	Large_intestine
COSM126620	c.4965T>A	p.C1655*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM24300	c.3275G>A	p.R1092H	Substitution - Missense	Ovary
COSM1637604	c.5501G>A	p.R1834Q	Substitution - Missense	Bone
COSM954442	c.2827C>T	p.R943C	Substitution - Missense	Large_intestine
COSM2030058	c.3765C>T	p.Y1255Y	Substitution - coding silent	Large_intestine
COSM4150747	c.78C>T	p.N26N	Substitution - coding silent	Kidney
COSM5493139	c.1721_1722delGA	p.R574fs*7	Deletion - Frameshift	Biliary_tract
COSM3401221	c.3714+1G>A	p.?	Unknown	Central_nervous_system
COSM1587304	c.3034C>A	p.L1012I	Substitution - Missense	Endometrium
COSM5986539	c.2355_2356insGGTC	p.K786fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2030124	c.2604G>A	p.L868L	Substitution - coding silent	Stomach
COSM3885836	c.647C>T	p.S216F	Substitution - Missense	Skin
COSM1369014	c.3144T>G	p.I1048M	Substitution - Missense	Large_intestine
COSM3494940	c.3209C>T	p.S1070F	Substitution - Missense	Skin
COSM954453	c.1505G>A	p.R502H	Substitution - Missense	Prostate
COSM2030001	c.5346A>G	p.A1782A	Substitution - coding silent	Large_intestine
COSM1369035	c.1296A>G	p.S432S	Substitution - coding silent	Large_intestine
COSM5362733	c.696G>A	p.Q232Q	Substitution - coding silent	Large_intestine
COSM4445235	c.6228delC	p.S2076fs*31	Deletion - Frameshift	Large_intestine
COSM1368977	c.7112delA	p.N2371fs*6	Deletion - Frameshift	Stomach
COSM5637050	c.3378G>C	p.Q1126H	Substitution - Missense	Oesophagus
COSM4889565	c.5933C>G	p.S1978*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5954544	c.1969-2A>G	p.?	Unknown	Upper_aerodigestive_tract
COSM6006300	c.5881delC	p.R1961fs*2	Deletion - Frameshift	Small_intestine
COSM3814477	c.4204C>T	p.R1402*	Substitution - Nonsense	Breast
COSM954447	c.2004C>A	p.F668L	Substitution - Missense	Endometrium
COSM954416	c.6970A>G	p.T2324A	Substitution - Missense	Endometrium
COSM4475233	c.1972C>T	p.P658S	Substitution - Missense	Skin
COSM469788	c.2809C>G	p.L937V	Substitution - Missense	Kidney
COSM1167877	c.2233_2234insA	p.I745fs*13	Insertion - Frameshift	Skin
COSM243678	c.1444C>T	p.R482*	Substitution - Nonsense	Prostate
COSM3494952	c.1842C>T	p.L614L	Substitution - coding silent	Skin
COSM3386465	c.1348C>T	p.R450C	Substitution - Missense	Pancreas
COSM5983820	c.4652G>A	p.W1551*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4049837	c.6667T>C	p.S2223P	Substitution - Missense	Stomach
COSM5718719	c.3358C>T	p.P1120S	Substitution - Missense	Skin
COSM954420	c.6597C>T	p.D2199D	Substitution - coding silent	Endometrium
COSM2030139	c.2003T>C	p.F668S	Substitution - Missense	Large_intestine
COSM1248224	c.1633_1634insG	p.K545fs*3	Insertion - Frameshift	Oesophagus
COSM1193422	c.4010G>A	p.R1337Q	Substitution - Missense	Lung
COSM5556855	c.3575T>C	p.I1192T	Substitution - Missense	Prostate
COSM4572342	c.7161T>C	p.A2387A	Substitution - coding silent	Skin
COSM4832255	c.593G>A	p.G198E	Substitution - Missense	Cervix
COSM3377364	c.6026C>T	p.P2009L	Substitution - Missense	Pancreas
COSM954418	c.6885+2T>G	p.?	Unknown	Endometrium
COSM1562703	c.2844T>A	p.D948E	Substitution - Missense	Large_intestine
COSM5551436	c.3108T>G	p.D1036E	Substitution - Missense	Prostate
COSM1201015	c.5608G>A	p.D1870N	Substitution - Missense	Liver
COSM70171	c.2408A>G	p.H803R	Substitution - Missense	Ovary
COSM4049847	c.4405C>T	p.R1469C	Substitution - Missense	Stomach
COSM79343	c.3952G>T	p.E1318*	Substitution - Nonsense	Ovary
COSM1368981	c.5875G>A	p.A1959T	Substitution - Missense	Large_intestine
COSM1201013	c.4591C>T	p.R1531C	Substitution - Missense	Large_intestine
COSM5485687	c.7388G>A	p.S2463N	Substitution - Missense	Large_intestine
COSM3401229	c.1111C>G	p.Q371E	Substitution - Missense	Central_nervous_system
COSM1201015	c.5608G>A	p.D1870N	Substitution - Missense	Large_intestine
COSM1607486	c.415T>G	p.S139A	Substitution - Missense	Liver
COSM954436	c.3871A>G	p.N1291D	Substitution - Missense	Endometrium
COSM4444465	c.3790G>A	p.E1264K	Substitution - Missense	Soft_tissue
COSM5913558	c.1079C>T	p.S360L	Substitution - Missense	Skin
COSM5767228	c.5477G>C	p.W1826S	Substitution - Missense	Breast
COSM3494938	c.3325C>T	p.L1109L	Substitution - coding silent	Skin
COSM3386463	c.2652G>A	p.M884I	Substitution - Missense	Pancreas
COSM3711479	c.6248C>T	p.S2083F	Substitution - Missense	Upper_aerodigestive_tract
COSM2030170	c.1158A>C	p.P386P	Substitution - coding silent	Large_intestine
COSM4049839	c.6115C>T	p.Q2039*	Substitution - Nonsense	Stomach
COSM1607483	c.4238A>G	p.D1413G	Substitution - Missense	Liver
COSM5422808	c.6836G>C	p.G2279A	Substitution - Missense	Pleura
COSM3494934	c.3398G>A	p.G1133D	Substitution - Missense	Skin
COSM3885835	c.1226C>T	p.S409F	Substitution - Missense	Skin
COSM5785898	c.5986C>A	p.P1996T	Substitution - Missense	Breast
COSM4429587	c.3411T>C	p.L1137L	Substitution - coding silent	Oesophagus
COSM3494917	c.6043C>T	p.Q2015*	Substitution - Nonsense	Skin
COSM2030054	c.3789C>T	p.Y1263Y	Substitution - coding silent	Large_intestine
COSM5801036	c.5127+1_5127+6delGTAAGG	p.?	Unknown	Breast
COSM432836	c.5190G>T	p.V1730V	Substitution - coding silent	Breast
COSM3494932	c.3785C>T	p.S1262F	Substitution - Missense	Skin
COSM1368991	c.4342C>T	p.R1448W	Substitution - Missense	Large_intestine
COSM954431	c.4403G>A	p.G1468E	Substitution - Missense	Endometrium
COSM469790	c.1733G>A	p.R578H	Substitution - Missense	Kidney
COSM5578300	c.3388C>T	p.R1130C	Substitution - Missense	Skin
COSM4049849	c.4378C>T	p.R1460*	Substitution - Nonsense	Stomach
COSM5650474	c.5562C>T	p.C1854C	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1159197	c.4044A>G	p.K1348K	Substitution - coding silent	Pancreas
COSM1128298	c.5007A>G	p.A1669A	Substitution - coding silent	Prostate
COSM4672102	c.2435G>A	p.R812Q	Substitution - Missense	Large_intestine
COSM954440	c.3274C>T	p.R1092C	Substitution - Missense	Stomach
COSM5699585	c.3504T>G	p.Y1168*	Substitution - Nonsense	Soft_tissue
COSM5382058	c.3667A>G	p.T1223A	Substitution - Missense	Skin
COSM3814479	c.4106A>T	p.D1369V	Substitution - Missense	Breast
COSM4609688	c.1509delG	p.K504fs*8	Deletion - Frameshift	Adrenal_gland
COSM5718719	c.3358C>T	p.P1120S	Substitution - Missense	Skin
COSM5462368	c.3470A>G	p.Q1157R	Substitution - Missense	Large_intestine
COSM1300484	c.5788G>A	p.D1930N	Substitution - Missense	Urinary_tract
COSM1159571	c.1570G>A	p.A524T	Substitution - Missense	Pancreas
COSM3401225	c.2671G>C	p.G891R	Substitution - Missense	Central_nervous_system
COSM1369005	c.3376C>T	p.Q1126*	Substitution - Nonsense	Large_intestine
COSM697543	c.7054C>T	p.R2352*	Substitution - Nonsense	Lung
COSM5669551	c.3503A>G	p.Y1168C	Substitution - Missense	Soft_tissue
COSM1477445	c.4430G>A	p.R1477Q	Substitution - Missense	Breast
COSM5483866	c.1490A>G	p.E497G	Substitution - Missense	Large_intestine
COSM3689920	c.1655A>C	p.N552T	Substitution - Missense	Large_intestine
COSM3494948	c.2347C>A	p.P783T	Substitution - Missense	Skin
COSM329250	c.5488C>T	p.R1830C	Substitution - Missense	Stomach
COSM1607480	c.6906A>T	p.E2302D	Substitution - Missense	Liver
COSM4409786	c.4864A>G	p.T1622A	Substitution - Missense	Oesophagus
COSM432834	c.6978G>T	p.L2326L	Substitution - coding silent	Breast
COSM239318	c.1681C>T	p.Q561*	Substitution - Nonsense	Prostate
COSM3737170	c.2364+5_2364+8delGTAC	p.?	Unknown	Soft_tissue
COSM5218205	c.4044delA	p.G1349fs*35	Deletion - Frameshift	Breast
COSM954428	c.4814C>T	p.A1605V	Substitution - Missense	Endometrium
COSM3494913	c.6698G>T	p.S2233I	Substitution - Missense	Skin
COSM4943692	c.5513A>G	p.K1838R	Substitution - Missense	Liver
COSM3494952	c.1842C>T	p.L614L	Substitution - coding silent	Skin
COSM697542	c.6499G>T	p.V2167F	Substitution - Missense	Lung
COSM3494920	c.5581C>T	p.P1861S	Substitution - Missense	Skin
COSM4460507	c.1169C>T	p.P390L	Substitution - Missense	Skin
COSM5899099	c.3448C>T	p.H1150Y	Substitution - Missense	Skin
COSM954425	c.5314C>T	p.R1772C	Substitution - Missense	Endometrium
COSM3690014	c.7036G>A	p.E2346K	Substitution - Missense	Large_intestine
COSM1368977	c.7112delA	p.N2371fs*6	Deletion - Frameshift	Large_intestine
COSM1369039	c.1051_1052insA	p.I351fs*70	Insertion - Frameshift	Large_intestine
COSM3936466	c.7252C>T	p.R2418W	Substitution - Missense	Oesophagus
COSM954450	c.1679C>T	p.A560V	Substitution - Missense	Endometrium
COSM1248228	c.899A>G	p.Q300R	Substitution - Missense	Stomach
COSM3936468	c.5989C>T	p.L1997L	Substitution - coding silent	Oesophagus
COSM1238502	c.5272C>T	p.R1758C	Substitution - Missense	Oesophagus
COSM5470219	c.6539G>A	p.R2180H	Substitution - Missense	Large_intestine
COSM4751084	c.2082A>G	p.I694M	Substitution - Missense	Stomach
COSM5612599	c.4738C>T	p.R1580W	Substitution - Missense	Adrenal_gland
COSM954448	c.1952G>A	p.R651Q	Substitution - Missense	Endometrium
COSM954452	c.1558A>G	p.K520E	Substitution - Missense	Endometrium
COSM5960234	c.6450_6451insG	p.A2151fs*3	Insertion - Frameshift	Thyroid
COSM5633290	c.2752T>C	p.Y918H	Substitution - Missense	Oesophagus
COSM6001100	c.6742G>T	p.E2248*	Substitution - Nonsense	Prostate
COSM4923645	c.6106C>T	p.P2036S	Substitution - Missense	Liver
COSM954447	c.2004C>A	p.F668L	Substitution - Missense	Endometrium
COSM4807523	c.3166A>T	p.I1056F	Substitution - Missense	Pancreas
COSM5906952	c.2731G>A	p.G911R	Substitution - Missense	Skin
COSM3711477	c.6536G>T	p.S2179I	Substitution - Missense	Upper_aerodigestive_tract
COSM1241006	c.6130C>T	p.R2044*	Substitution - Nonsense	Large_intestine
COSM1607486	c.415T>G	p.S139A	Substitution - Missense	Liver
COSM70172	c.1216G>C	p.A406P	Substitution - Missense	Ovary
COSM3814485	c.2019G>T	p.K673N	Substitution - Missense	Breast
COSM5552958	c.5446G>T	p.E1816*	Substitution - Nonsense	Prostate
COSM5781182	c.2434C>T	p.R812W	Substitution - Missense	Breast
COSM4150746	c.87A>T	p.T29T	Substitution - coding silent	Kidney
COSM4408513	c.3898A>G	p.K1300E	Substitution - Missense	Oesophagus
COSM4528616	c.1551G>A	p.K517K	Substitution - coding silent	Skin
COSM344274	c.6858G>T	p.K2286N	Substitution - Missense	Lung
COSM954442	c.2827C>T	p.R943C	Substitution - Missense	Endometrium
COSM3690014	c.7036G>A	p.E2346K	Substitution - Missense	Large_intestine
COSM3814489	c.1010T>G	p.V337G	Substitution - Missense	Breast
COSM3814481	c.3095G>C	p.R1032T	Substitution - Missense	Breast
COSM296466	c.7496C>A	p.P2499H	Substitution - Missense	Pancreas
COSM3356675	c.1716+7G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5674156	c.796G>T	p.G266W	Substitution - Missense	Soft_tissue
COSM3814483	c.2509G>A	p.E837K	Substitution - Missense	Breast
COSM4444465	c.3790G>A	p.E1264K	Substitution - Missense	Large_intestine
COSM74136	c.3844C>G	p.L1282V	Substitution - Missense	Ovary
COSM5520728	c.4828A>G	p.I1610V	Substitution - Missense	Liver
COSM5434069	c.3133C>T	p.Q1045*	Substitution - Nonsense	Oesophagus
COSM954451	c.1592G>A	p.S531N	Substitution - Missense	Endometrium
COSM4502149	c.6068C>T	p.T2023I	Substitution - Missense	Skin
COSM215581	c.3725G>A	p.R1242Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1368977	c.7112delA	p.N2371fs*6	Deletion - Frameshift	Large_intestine
COSM954440	c.3274C>T	p.R1092C	Substitution - Missense	Endometrium
COSM1368985	c.5267A>C	p.Y1756S	Substitution - Missense	Large_intestine
COSM469787	c.2978T>C	p.F993S	Substitution - Missense	Kidney
COSM5740037	c.3119delA	p.N1040fs*12	Deletion - Frameshift	Small_intestine
COSM954430	c.4414C>T	p.R1472*	Substitution - Nonsense	Endometrium
COSM5913560	c.1968+6G>A	p.?	Unknown	Skin
COSM2029922	c.6859_6861delAAG	p.K2287delK	Deletion - In frame	Oesophagus
COSM432835	c.5762C>A	p.P1921H	Substitution - Missense	Breast
COSM1369007	c.3322_3323insA	p.I1108fs*7	Insertion - Frameshift	Large_intestine
COSM4445241	c.6106C>G	p.P2036A	Substitution - Missense	Large_intestine
COSM3814473	c.4761G>A	p.L1587L	Substitution - coding silent	Breast
COSM5954199	c.4462G>A	p.V1488M	Substitution - Missense	Upper_aerodigestive_tract
COSM5445365	c.2644A>T	p.T882S	Substitution - Missense	Oesophagus
COSM4445231	c.7497C>T	p.P2499P	Substitution - coding silent	Large_intestine
COSM243679	c.884A>G	p.Q295R	Substitution - Missense	Prostate
COSM2029974	c.5998C>T	p.R2000C	Substitution - Missense	Large_intestine
COSM3737265	c.3450T>A	p.H1150Q	Substitution - Missense	Soft_tissue
COSM1369016	c.2839A>G	p.I947V	Substitution - Missense	Large_intestine
COSM1248229	c.6498C>T	p.L2166L	Substitution - coding silent	Oesophagus
COSM4445237	c.6122A>G	p.Y2041C	Substitution - Missense	Large_intestine
COSM5448638	c.7388G>T	p.S2463I	Substitution - Missense	Large_intestine
COSM4150744	c.108C>A	p.A36A	Substitution - coding silent	Kidney
COSM4980958	c.2823A>G	p.E941E	Substitution - coding silent	Oesophagus
COSM1368983	c.5713delC	p.L1905fs*30	Deletion - Frameshift	Large_intestine
COSM4170674	c.4935T>G	p.Y1645*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1368991	c.4342C>T	p.R1448W	Substitution - Missense	Breast
COSM1726533	c.6262T>G	p.S2088A	Substitution - Missense	Liver
COSM3814487	c.1031T>G	p.V344G	Substitution - Missense	Breast
COSM1368977	c.7112delA	p.N2371fs*6	Deletion - Frameshift	Large_intestine
COSM3955899	c.1649C>A	p.S550Y	Substitution - Missense	Lung
COSM5793928	c.3541G>A	p.G1181R	Substitution - Missense	Breast
COSM2029974	c.5998C>T	p.R2000C	Substitution - Missense	Large_intestine
COSM26303	c.2504C>T	p.A835V	Substitution - Missense	Skin
COSM3494924	c.4442C>T	p.T1481I	Substitution - Missense	Skin
COSM3711479	c.6248C>T	p.S2083F	Substitution - Missense	Upper_aerodigestive_tract
COSM4878610	c.2515G>A	p.G839R	Substitution - Missense	Prostate
COSM4768594	c.2911C>A	p.H971N	Substitution - Missense	Biliary_tract
COSM1368973	c.7148C>T	p.P2383L	Substitution - Missense	Large_intestine
COSM1201016	c.2820T>G	p.I940M	Substitution - Missense	Large_intestine
COSM3377366	c.3533G>A	p.R1178H	Substitution - Missense	Pancreas
COSM1607480	c.6906A>T	p.E2302D	Substitution - Missense	Liver
COSM5686474	c.4286G>T	p.R1429L	Substitution - Missense	Soft_tissue
COSM2030058	c.3765C>T	p.Y1255Y	Substitution - coding silent	Large_intestine
COSM5680489	c.3977G>T	p.C1326F	Substitution - Missense	Soft_tissue
COSM3494946	c.2347C>T	p.P783S	Substitution - Missense	Skin
COSM1284111	c.1138C>T	p.Q380*	Substitution - Nonsense	Autonomic_ganglia
COSM5053857	c.2748C>T	p.G916G	Substitution - coding silent	Stomach
COSM5964996	c.1702G>C	p.E568Q	Substitution - Missense	Breast
COSM5925784	c.5116C>T	p.Q1706*	Substitution - Nonsense	Skin
COSM319436	c.3818T>G	p.L1273R	Substitution - Missense	Lung
COSM5954428	c.6885+4A>C	p.?	Unknown	Upper_aerodigestive_tract
COSM954433	c.4009C>T	p.R1337*	Substitution - Nonsense	Endometrium
COSM229797	c.3545G>A	p.R1182Q	Substitution - Missense	Skin
COSM954438	c.3628C>T	p.R1210W	Substitution - Missense	Endometrium
COSM4537684	c.2449G>A	p.E817K	Substitution - Missense	Skin
COSM5362733	c.696G>A	p.Q232Q	Substitution - coding silent	Large_intestine
COSM1368977	c.7112delA	p.N2371fs*6	Deletion - Frameshift	Large_intestine
COSM216318	c.1424G>A	p.R475H	Substitution - Missense	Pancreas
COSM4504257	c.6602C>T	p.P2201L	Substitution - Missense	Skin
COSM954421	c.6435G>A	p.L2145L	Substitution - coding silent	Endometrium
COSM3793567	c.3805G>C	p.D1269H	Substitution - Missense	Urinary_tract
COSM392424	c.4710delG	p.K1571fs*17	Deletion - Frameshift	Lung
COSM5812236	c.472A>C	p.K158Q	Substitution - Missense	Liver
COSM5074322	c.7493_7495delACC	p.H2498delH	Deletion - In frame	Large_intestine
COSM4049867	c.1349G>A	p.R450H	Substitution - Missense	Stomach
COSM4672100	c.3393A>C	p.S1131S	Substitution - coding silent	Large_intestine
COSM469789	c.1791A>T	p.E597D	Substitution - Missense	Kidney
COSM319438	c.3863G>T	p.R1288L	Substitution - Missense	Biliary_tract
COSM4672104	c.1008G>T	p.K336N	Substitution - Missense	Large_intestine
COSM5551436	c.3108T>G	p.D1036E	Substitution - Missense	Prostate
COSM5983818	c.4690G>A	p.E1564K	Substitution - Missense	Upper_aerodigestive_tract
COSM3494922	c.5542C>T	p.H1848Y	Substitution - Missense	Skin
COSM4049833	c.7001G>A	p.R2334Q	Substitution - Missense	Pancreas
COSM5342432	c.5051+8T>G	p.?	Unknown	Large_intestine
COSM1369031	c.1988C>T	p.T663I	Substitution - Missense	Large_intestine
COSM4049857	c.1885A>G	p.M629V	Substitution - Missense	Stomach
COSM954419	c.6705G>A	p.A2235A	Substitution - coding silent	Endometrium
COSM299129	c.5600-9C>A	p.?	Unknown	Large_intestine
COSM5569480	c.666A>G	p.T222T	Substitution - coding silent	Prostate
COSM459202	c.4030G>A	p.E1344K	Substitution - Missense	Cervix
COSM1607480	c.6906A>T	p.E2302D	Substitution - Missense	Liver
COSM3401223	c.3565C>T	p.Q1189*	Substitution - Nonsense	Central_nervous_system
COSM4049851	c.3535A>G	p.I1179V	Substitution - Missense	Stomach
COSM3377366	c.3533G>A	p.R1178H	Substitution - Missense	Pancreas
COSM4589653	c.3800_3801insGA	p.F1268fs*19	Insertion - Frameshift	Skin
COSM4791756	c.2436G>A	p.R812R	Substitution - coding silent	Liver
COSM4895809	c.5725C>T	p.R1909W	Substitution - Missense	Skin
COSM4170676	c.3520T>A	p.Y1174N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2029928	c.6727C>T	p.R2243C	Substitution - Missense	Large_intestine
COSM4493454	c.4159C>T	p.L1387L	Substitution - coding silent	Skin
COSM954449	c.1757C>A	p.T586K	Substitution - Missense	Endometrium
COSM5620487	c.7198A>G	p.T2400A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4791756	c.2436G>A	p.R812R	Substitution - coding silent	Liver
COSM4986791	c.380A>G	p.E127G	Substitution - Missense	Soft_tissue
COSM5551436	c.3108T>G	p.D1036E	Substitution - Missense	Prostate
COSM319437	c.6289G>A	p.E2097K	Substitution - Missense	Lung
COSM5495155	c.339G>C	p.S113S	Substitution - coding silent	Biliary_tract
COSM3401219	c.4058C>G	p.A1353G	Substitution - Missense	Central_nervous_system
COSM3494942	c.3034C>T	p.L1012F	Substitution - Missense	Skin
COSM5416067	c.3216T>C	p.L1072L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1284111	c.1138C>T	p.Q380*	Substitution - Nonsense	Autonomic_ganglia
COSM239317	c.4906G>A	p.G1636R	Substitution - Missense	Prostate
COSM3494954	c.1109C>T	p.T370I	Substitution - Missense	Skin
COSM1368979	c.6659G>T	p.S2220I	Substitution - Missense	Large_intestine
COSM4147994	c.172G>A	p.V58M	Substitution - Missense	Thyroid
COSM4919311	c.2329C>T	p.R777W	Substitution - Missense	Liver
COSM5485688	c.295C>T	p.P99S	Substitution - Missense	Large_intestine
COSM954437	c.3804T>A	p.F1268L	Substitution - Missense	Endometrium
COSM4887315	c.7014G>C	p.E2338D	Substitution - Missense	Upper_aerodigestive_tract
COSM3955895	c.4874G>T	p.W1625L	Substitution - Missense	Lung
COSM5847801	c.4418G>A	p.R1473H	Substitution - Missense	Prostate
COSM2030150	c.1636C>T	p.R546C	Substitution - Missense	Large_intestine
COSM5790396	c.3605G>A	p.R1202H	Substitution - Missense	Breast
COSM954441	c.3236C>T	p.T1079I	Substitution - Missense	Endometrium
COSM319438	c.3863G>T	p.R1288L	Substitution - Missense	Lung
COSM2030029	c.4327C>T	p.R1443C	Substitution - Missense	Large_intestine
COSM5794393	c.2302G>A	p.D768N	Substitution - Missense	Breast
COSM5730716	c.3500A>G	p.D1167G	Substitution - Missense	Breast
COSM697535	c.2679G>T	p.L893L	Substitution - coding silent	Lung
COSM5480214	c.4032A>G	p.E1344E	Substitution - coding silent	Large_intestine
COSM432837	c.4900C>G	p.L1634V	Substitution - Missense	Breast
COSM2030023	c.4419T>C	p.R1473R	Substitution - coding silent	Large_intestine
COSM5916342	c.4922-4C>T	p.?	Unknown	Skin
COSM5767261	c.6310G>T	p.E2104*	Substitution - Nonsense	Breast
COSM4049845	c.5666G>A	p.R1889H	Substitution - Missense	Stomach
COSM1128297	c.3642T>C	p.L1214L	Substitution - coding silent	Prostate
COSM4049845	c.5666G>A	p.R1889H	Substitution - Missense	Stomach
COSM954423	c.5422C>T	p.R1808*	Substitution - Nonsense	Endometrium
COSM3711477	c.6536G>T	p.S2179I	Substitution - Missense	Upper_aerodigestive_tract
COSM954429	c.4483C>T	p.R1495C	Substitution - Missense	Endometrium
COSM697540	c.4648G>A	p.D1550N	Substitution - Missense	Lung
COSM954453	c.1505G>A	p.R502H	Substitution - Missense	Endometrium
COSM4672096	c.3863G>A	p.R1288Q	Substitution - Missense	Large_intestine
COSM24300	c.3275G>A	p.R1092H	Substitution - Missense	Breast
COSM4445227	c.5607delC	p.D1870fs*21	Deletion - Frameshift	Large_intestine
COSM469786	c.4405C>A	p.R1469S	Substitution - Missense	Kidney
COSM3772894	c.3937G>A	p.A1313T	Substitution - Missense	Pancreas
COSM5718719	c.3358C>T	p.P1120S	Substitution - Missense	Skin
COSM5692527	c.1456G>A	p.E486K	Substitution - Missense	Soft_tissue
COSM4049863	c.1477C>T	p.R493W	Substitution - Missense	Stomach
COSM954426	c.5273G>A	p.R1758H	Substitution - Missense	Endometrium
COSM4768555	c.5128-2A>T	p.?	Unknown	Biliary_tract
COSM4391840	c.6732A>T	p.R2244R	Substitution - coding silent	Prostate
COSM5793928	c.3541G>A	p.G1181R	Substitution - Missense	Breast
COSM260097	c.3207C>A	p.F1069L	Substitution - Missense	Large_intestine
COSM469790	c.1733G>A	p.R578H	Substitution - Missense	Upper_aerodigestive_tract
COSM4672094	c.4739G>A	p.R1580Q	Substitution - Missense	Large_intestine
COSM4596556	c.3722C>A	p.A1241E	Substitution - Missense	Upper_aerodigestive_tract
COSM2030164	c.1328delA	p.K443fs*23	Deletion - Frameshift	Large_intestine
COSM5761044	c.5783G>A	p.R1928Q	Substitution - Missense	Pancreas
COSM5785845	c.5011G>A	p.E1671K	Substitution - Missense	Breast

> Text Mining based Variations [ TOP ]
There is no record for CHD8.

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q9HCK8	553	S	Phosphoserine	-	Yes	p.S553* (cancer: BLCA)
Q9HCK8	562	S	Phosphoserine	-	No	None detected
Q9HCK8	1420	S	Phosphoserine	-	No	None detected
Q9HCK8	1424	S	Phosphoserine	-	No	None detected
Q9HCK8	1976	S	Phosphoserine	-	No	None detected
Q9HCK8	1978	S	Phosphoserine	-	No	None detected
Q9HCK8	1993	T	Phosphothreonine	-	No	None detected
Q9HCK8	1995	S	Phosphoserine	-	No	None detected
Q9HCK8	2008	S	Phosphoserine	-	No	None detected
Q9HCK8	2046	S	Phosphoserine	-	No	None detected
Q9HCK8	2051	T	Phosphothreonine	-	No	None detected
Q9HCK8	2069	S	Phosphoserine	-	No	None detected
Q9HCK8	2071	S	Phosphoserine	-	No	None detected
Q9HCK8	2182	S	Phosphoserine	-	No	None detected
Q9HCK8	2200	S	Phosphoserine	-	No	None detected
Q9HCK8	2202	S	Phosphoserine	-	Yes	p.SLTP2202fs (cancer: GBM)
Q9HCK8	2204	T	Phosphothreonine	-	No	None detected
Q9HCK8	2211	S	Phosphoserine	-	Yes	p.S2211C (cancer: HNSC)
Q9HCK8	2215	T	Phosphothreonine	-	No	None detected
Q9HCK8	2223	S	Phosphoserine	-	Yes	p.S2223P (cancer: STAD)
Q9HCK8	2519	S	Phosphoserine	-	No	None detected

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.339	6.324	0.024	0.866	NS
BRCA	Breast invasive carcinoma	112	1100	6.722	6.795	0.085	0.0757	NS
CESC	Cervical and endocervical cancers	3	306	6.185	6.364	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.105	5.937	-0.139	0.0724	NS
ESCA	Esophageal carcinoma	11	185	6.767	6.821	0.091	0.623	NS
GBM	Glioblastoma multiforme	5	166	6.756	6.195	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.312	6.403	0.094	0.31	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.373	6.073	-0.292	1.72e-07	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.211	6.058	-0.111	0.188	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.531	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.824	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.71	5.025	0.326	1.57e-06	NS
LUAD	Lung adenocarcinoma	59	517	6.413	6.445	0.163	0.0301	NS
LUSC	Lung squamous cell carcinoma	51	501	6.39	6.37	0.028	0.753	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.685	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.16	6.201	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.842	6.047	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.484	6.444	0.033	0.612	NS
READ	Rectum adenocarcinoma	10	167	6.108	5.91	-0.059	0.773	NS
SARC	Sarcoma	2	263	5.627	6.119	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.407	6.542	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.43	6.52	0.157	0.0659	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.874	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.465	6.21	-0.222	1.55e-06	NS
THYM	Thymoma	2	120	6.826	6.597	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.334	6.356	0.008	0.927	NS

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	8.8
Autonomic ganglia	CHP212	8.3
Autonomic ganglia	IMR32	8.5
Autonomic ganglia	KELLY	8.3
Autonomic ganglia	KPNRTBM1	8.6
Autonomic ganglia	KPNSI9S	7.9
Autonomic ganglia	KPNYN	8.4
Autonomic ganglia	MHHNB11	7.7
Autonomic ganglia	NB1	8.4
Autonomic ganglia	NH6	7.8
Autonomic ganglia	SHSY5Y	8.6
Autonomic ganglia	SIMA	8.6
Autonomic ganglia	SKNAS	8.3
Autonomic ganglia	SKNBE2	8.1
Autonomic ganglia	SKNDZ	8.3
Autonomic ganglia	SKNFI	8.3
Autonomic ganglia	SKNSH	7.6
Biliary tract	HUCCT1	7.2
Biliary tract	HUH28	7.2
Biliary tract	SNU1079	8.3
Biliary tract	SNU1196	8.8
Biliary tract	SNU245	8.3
Biliary tract	SNU308	9.1
Biliary tract	SNU478	8.8
Bone	143B	8.2
Bone	A673	8.4
Bone	CADOES1	8.1
Bone	CAL78	7.9
Bone	G292CLONEA141B1	8
Bone	HOS	7.9
Bone	HS706T	7.1
Bone	HS737T	7.7
Bone	HS819T	7.3
Bone	HS821T	7.5
Bone	HS822T	7.5
Bone	HS863T	7.7
Bone	HS870T	6.7
Bone	HS888T	8.1
Bone	MG63	7.6
Bone	MHHES1	8.4
Bone	OUMS27	8.1
Bone	RDES	8.4
Bone	SJSA1	8.1
Bone	SKES1	8.1
Bone	SKNMC	9
Bone	SW1353	7.7
Bone	T173	7
Bone	TC71	8.3
Bone	U2OS	8.3
Breast	AU565	8.9
Breast	BT20	8.5
Breast	BT474	9.2
Breast	BT483	8.5
Breast	BT549	8.3
Breast	CAL120	8.2
Breast	CAL148	8.7
Breast	CAL51	8.4
Breast	CAL851	7.6
Breast	CAMA1	8.1
Breast	DU4475	8.1
Breast	EFM192A	8.5
Breast	EFM19	8.8
Breast	EVSAT	7.9
Breast	HCC1143	8.8
Breast	HCC1187	8.1
Breast	HCC1395	8.6
Breast	HCC1419	8.3
Breast	HCC1428	8
Breast	HCC1500	7.9
Breast	HCC1569	7.2
Breast	HCC1599	7.5
Breast	HCC1806	8.5
Breast	HCC1937	8.5
Breast	HCC1954	8
Breast	HCC202	8.9
Breast	HCC2157	7.7
Breast	HCC2218	7.8
Breast	HCC38	7.5
Breast	HCC70	8.3
Breast	HDQP1	7.9
Breast	HMC18	8.4
Breast	HS274T	7.8
Breast	HS281T	7.9
Breast	HS343T	7.8
Breast	HS578T	7.6
Breast	HS606T	7.7
Breast	HS739T	7.8
Breast	HS742T	7.3
Breast	JIMT1	7.8
Breast	KPL1	8.6
Breast	MCF7	8.4
Breast	MDAMB134VI	7.8
Breast	MDAMB157	7.6
Breast	MDAMB175VII	8.1
Breast	MDAMB231	7.8
Breast	MDAMB361	8.6
Breast	MDAMB415	8.2
Breast	MDAMB436	8.7
Breast	MDAMB453	8.8
Breast	MDAMB468	7.9
Breast	SKBR3	8.7
Breast	T47D	7.6
Breast	UACC812	9.2
Breast	UACC893	9
Breast	YMB1	8
Breast	ZR751	7.6
Breast	ZR7530	8.2
Central nervous system	1321N1	8.5
Central nervous system	42MGBA	8.3
Central nervous system	8MGBA	7.5
Central nervous system	A172	7.1
Central nervous system	AM38	6.9
Central nervous system	BECKER	7.3
Central nervous system	CAS1	7.9
Central nervous system	CCFSTTG1	7.9
Central nervous system	D283MED	8.6
Central nervous system	D341MED	7.9
Central nervous system	DAOY	8.4
Central nervous system	DBTRG05MG	7.5
Central nervous system	DKMG	6.7
Central nervous system	GAMG	7.8
Central nervous system	GB1	8.2
Central nervous system	GI1	8.5
Central nervous system	GMS10	8.6
Central nervous system	GOS3	7.9
Central nervous system	H4	7.9
Central nervous system	HS683	7.7
Central nervous system	KALS1	7.8
Central nervous system	KG1C	6.7
Central nervous system	KNS42	7.6
Central nervous system	KNS60	7.2
Central nervous system	KNS81	6.7
Central nervous system	KS1	7.9
Central nervous system	LN18	8.5
Central nervous system	LN229	7
Central nervous system	M059K	8.4
Central nervous system	MOGGCCM	7.9
Central nervous system	MOGGUVW	8.5
Central nervous system	NMCG1	7.7
Central nervous system	ONS76	8
Central nervous system	SF126	8
Central nervous system	SF295	7.8
Central nervous system	SNB19	7.3
Central nervous system	SNU1105	7.5
Central nervous system	SNU201	7.7
Central nervous system	SNU466	8.3
Central nervous system	SNU489	8.1
Central nervous system	SNU626	7.7
Central nervous system	SNU738	7.9
Central nervous system	SW1088	8
Central nervous system	SW1783	7.7
Central nervous system	T98G	7.9
Central nervous system	TM31	8.7
Central nervous system	U118MG	8.2
Central nervous system	U138MG	7.7
Central nervous system	U251MG	7.4
Central nervous system	U87MG	7.3
Central nervous system	YH13	8.3
Central nervous system	YKG1	7.3
Endometrium	AN3CA	7.6
Endometrium	COLO684	9.2
Endometrium	EFE184	8
Endometrium	EN	7.6
Endometrium	ESS1	8.1
Endometrium	HEC108	7.5
Endometrium	HEC151	7.1
Endometrium	HEC1A	8
Endometrium	HEC1B	7.9
Endometrium	HEC251	8.3
Endometrium	HEC265	7.6
Endometrium	HEC50B	7.3
Endometrium	HEC59	8
Endometrium	HEC6	6.8
Endometrium	ISHIKAWAHERAKLIO02ER	7.3
Endometrium	JHUEM1	7.9
Endometrium	JHUEM2	7.9
Endometrium	JHUEM3	7.9
Endometrium	KLE	6.9
Endometrium	MFE280	7.9
Endometrium	MFE296	8.6
Endometrium	MFE319	7.9
Endometrium	RL952	7.7
Endometrium	SNGM	8
Endometrium	SNU1077	8.6
Endometrium	SNU685	7.7
Endometrium	TEN	7.9
Haematopoietic and lymphoid	697	8.6
Haematopoietic and lymphoid	A3KAW	7.9
Haematopoietic and lymphoid	A4FUK	8
Haematopoietic and lymphoid	ALLSIL	8.8
Haematopoietic and lymphoid	AML193	8.6
Haematopoietic and lymphoid	AMO1	7.9
Haematopoietic and lymphoid	BCP1	8.4
Haematopoietic and lymphoid	BDCM	8.1
Haematopoietic and lymphoid	BL41	9
Haematopoietic and lymphoid	BL70	8.7
Haematopoietic and lymphoid	BV173	8.7
Haematopoietic and lymphoid	CA46	8.5
Haematopoietic and lymphoid	CI1	8.7
Haematopoietic and lymphoid	CMK115	7.8
Haematopoietic and lymphoid	CMK86	8.5
Haematopoietic and lymphoid	CMK	8.3
Haematopoietic and lymphoid	CMLT1	8.5
Haematopoietic and lymphoid	COLO775	8.1
Haematopoietic and lymphoid	DAUDI	8.3
Haematopoietic and lymphoid	DB	8.5
Haematopoietic and lymphoid	DEL	9
Haematopoietic and lymphoid	DND41	8.7
Haematopoietic and lymphoid	DOHH2	8.7
Haematopoietic and lymphoid	EB1	8.3
Haematopoietic and lymphoid	EB2	8.1
Haematopoietic and lymphoid	EHEB	8.4
Haematopoietic and lymphoid	EJM	8.4
Haematopoietic and lymphoid	EM2	7.9
Haematopoietic and lymphoid	EOL1	8.1
Haematopoietic and lymphoid	F36P	7.7
Haematopoietic and lymphoid	GA10	8.4
Haematopoietic and lymphoid	GDM1	8.1
Haematopoietic and lymphoid	GRANTA519	8.1
Haematopoietic and lymphoid	HDLM2	8.1
Haematopoietic and lymphoid	HDMYZ	7.5
Haematopoietic and lymphoid	HEL9217	8.1
Haematopoietic and lymphoid	HEL	8.1
Haematopoietic and lymphoid	HH	8.3
Haematopoietic and lymphoid	HL60	9.5
Haematopoietic and lymphoid	HPBALL	8.9
Haematopoietic and lymphoid	HS604T	8.2
Haematopoietic and lymphoid	HS611T	8.2
Haematopoietic and lymphoid	HS616T	7.6
Haematopoietic and lymphoid	HS751T	6.7
Haematopoietic and lymphoid	HT	8.8
Haematopoietic and lymphoid	HTK	8.2
Haematopoietic and lymphoid	HUNS1	8.3
Haematopoietic and lymphoid	HUT102	7.8
Haematopoietic and lymphoid	HUT78	8.4
Haematopoietic and lymphoid	JEKO1	8.6
Haematopoietic and lymphoid	JK1	8.2
Haematopoietic and lymphoid	JM1	8.5
Haematopoietic and lymphoid	JURKAT	8.1
Haematopoietic and lymphoid	JURLMK1	8.1
Haematopoietic and lymphoid	JVM2	8.4
Haematopoietic and lymphoid	JVM3	8.3
Haematopoietic and lymphoid	K562	7.6
Haematopoietic and lymphoid	KARPAS299	8.4
Haematopoietic and lymphoid	KARPAS422	9.3
Haematopoietic and lymphoid	KARPAS620	8
Haematopoietic and lymphoid	KASUMI1	7.9
Haematopoietic and lymphoid	KASUMI2	8.6
Haematopoietic and lymphoid	KASUMI6	8.4
Haematopoietic and lymphoid	KCL22	8
Haematopoietic and lymphoid	KE37	7.4
Haematopoietic and lymphoid	KE97	7.6
Haematopoietic and lymphoid	KG1	8.6
Haematopoietic and lymphoid	KHM1B	7.7
Haematopoietic and lymphoid	KIJK	8.4
Haematopoietic and lymphoid	KMH2	8.1
Haematopoietic and lymphoid	KMM1	8.5
Haematopoietic and lymphoid	KMS11	7.8
Haematopoietic and lymphoid	KMS12BM	8.4
Haematopoietic and lymphoid	KMS18	7.6
Haematopoietic and lymphoid	KMS20	8.5
Haematopoietic and lymphoid	KMS21BM	7.4
Haematopoietic and lymphoid	KMS26	7.8
Haematopoietic and lymphoid	KMS27	7.7
Haematopoietic and lymphoid	KMS28BM	7.8
Haematopoietic and lymphoid	KMS34	7.4
Haematopoietic and lymphoid	KO52	8.3
Haematopoietic and lymphoid	KOPN8	8.5
Haematopoietic and lymphoid	KU812	8.7
Haematopoietic and lymphoid	KYO1	8.4
Haematopoietic and lymphoid	L1236	8.3
Haematopoietic and lymphoid	L363	9
Haematopoietic and lymphoid	L428	8.9
Haematopoietic and lymphoid	L540	7.5
Haematopoietic and lymphoid	LAMA84	8.1
Haematopoietic and lymphoid	LOUCY	8.5
Haematopoietic and lymphoid	LP1	7.8
Haematopoietic and lymphoid	M07E	8.3
Haematopoietic and lymphoid	MC116	8.4
Haematopoietic and lymphoid	ME1	8.2
Haematopoietic and lymphoid	MEC1	7.9
Haematopoietic and lymphoid	MEC2	8.7
Haematopoietic and lymphoid	MEG01	8.4
Haematopoietic and lymphoid	MHHCALL2	8.5
Haematopoietic and lymphoid	MHHCALL3	8.5
Haematopoietic and lymphoid	MHHCALL4	8.5
Haematopoietic and lymphoid	MINO	8.5
Haematopoietic and lymphoid	MJ	8.1
Haematopoietic and lymphoid	MM1S	7.6
Haematopoietic and lymphoid	MOLM13	8.4
Haematopoietic and lymphoid	MOLM16	8.4
Haematopoietic and lymphoid	MOLM6	8.2
Haematopoietic and lymphoid	MOLP2	8.5
Haematopoietic and lymphoid	MOLP8	7.5
Haematopoietic and lymphoid	MOLT13	9.2
Haematopoietic and lymphoid	MOLT16	8.7
Haematopoietic and lymphoid	MOLT4	8.6
Haematopoietic and lymphoid	MONOMAC1	8.2
Haematopoietic and lymphoid	MONOMAC6	8.4
Haematopoietic and lymphoid	MOTN1	8.6
Haematopoietic and lymphoid	MUTZ5	8.3
Haematopoietic and lymphoid	MV411	9.3
Haematopoietic and lymphoid	NALM19	8.5
Haematopoietic and lymphoid	NALM1	8.4
Haematopoietic and lymphoid	NALM6	8.6
Haematopoietic and lymphoid	NAMALWA	9.1
Haematopoietic and lymphoid	NB4	8.3
Haematopoietic and lymphoid	NCIH929	7.7
Haematopoietic and lymphoid	NCO2	7.7
Haematopoietic and lymphoid	NOMO1	8.3
Haematopoietic and lymphoid	NUDHL1	8.1
Haematopoietic and lymphoid	NUDUL1	8.8
Haematopoietic and lymphoid	OCIAML2	8
Haematopoietic and lymphoid	OCIAML3	8.5
Haematopoietic and lymphoid	OCIAML5	8.1
Haematopoietic and lymphoid	OCILY10	9.6
Haematopoietic and lymphoid	OCILY19	8.4
Haematopoietic and lymphoid	OCILY3	7.9
Haematopoietic and lymphoid	OCIM1	8.1
Haematopoietic and lymphoid	OPM2	7.5
Haematopoietic and lymphoid	P12ICHIKAWA	8.4
Haematopoietic and lymphoid	P31FUJ	7.4
Haematopoietic and lymphoid	P3HR1	8.6
Haematopoietic and lymphoid	PCM6	8.4
Haematopoietic and lymphoid	PEER	8.6
Haematopoietic and lymphoid	PF382	9
Haematopoietic and lymphoid	PFEIFFER	8.9
Haematopoietic and lymphoid	PL21	8
Haematopoietic and lymphoid	RAJI	8.7
Haematopoietic and lymphoid	RCHACV	7.7
Haematopoietic and lymphoid	REC1	8.6
Haematopoietic and lymphoid	REH	8.5
Haematopoietic and lymphoid	RI1	8.5
Haematopoietic and lymphoid	RL	8.7
Haematopoietic and lymphoid	RPMI8226	7.6
Haematopoietic and lymphoid	RPMI8402	8.8
Haematopoietic and lymphoid	RS411	8.1
Haematopoietic and lymphoid	SEM	7.9
Haematopoietic and lymphoid	SET2	8.6
Haematopoietic and lymphoid	SIGM5	8.3
Haematopoietic and lymphoid	SKM1	7.9
Haematopoietic and lymphoid	SKMM2	8.5
Haematopoietic and lymphoid	SR786	7.6
Haematopoietic and lymphoid	ST486	8.4
Haematopoietic and lymphoid	SUDHL10	8.8
Haematopoietic and lymphoid	SUDHL1	8.3
Haematopoietic and lymphoid	SUDHL4	8.6
Haematopoietic and lymphoid	SUDHL5	8.9
Haematopoietic and lymphoid	SUDHL6	8.9
Haematopoietic and lymphoid	SUDHL8	8.1
Haematopoietic and lymphoid	SUPB15	8.2
Haematopoietic and lymphoid	SUPHD1	8.3
Haematopoietic and lymphoid	SUPM2	7.9
Haematopoietic and lymphoid	SUPT11	9.1
Haematopoietic and lymphoid	SUPT1	8.7
Haematopoietic and lymphoid	TALL1	8.8
Haematopoietic and lymphoid	TF1	9.2
Haematopoietic and lymphoid	THP1	7.9
Haematopoietic and lymphoid	TO175T	7.7
Haematopoietic and lymphoid	TOLEDO	8.3
Haematopoietic and lymphoid	U266B1	8.3
Haematopoietic and lymphoid	U937	7.8
Haematopoietic and lymphoid	UT7	8.5
Haematopoietic and lymphoid	WSUDLCL2	8.7
Kidney	769P	7.5
Kidney	786O	7.4
Kidney	A498	7.5
Kidney	A704	6.4
Kidney	ACHN	7.8
Kidney	BFTC909	7.9
Kidney	CAKI1	7.6
Kidney	CAKI2	7.3
Kidney	CAL54	8.1
Kidney	KMRC1	7.3
Kidney	KMRC20	7.3
Kidney	KMRC2	7.5
Kidney	KMRC3	7.7
Kidney	OSRC2	7.4
Kidney	RCC10RGB	7.3
Kidney	SNU1272	7.3
Kidney	SNU349	7.6
Kidney	TUHR10TKB	6.9
Kidney	TUHR14TKB	7.3
Kidney	TUHR4TKB	7
Kidney	VMRCRCW	6.9
Kidney	VMRCRCZ	7.7
Large intestine	C2BBE1	7.5
Large intestine	CCK81	7.6
Large intestine	CL11	8.2
Large intestine	CL14	8
Large intestine	CL34	7.4
Large intestine	CL40	8
Large intestine	COLO205	7.6
Large intestine	COLO320	9.1
Large intestine	COLO678	8.6
Large intestine	CW2	7.5
Large intestine	DLD1	8
Large intestine	GP2D	6.3
Large intestine	HCC56	7.8
Large intestine	HCT116	7.5
Large intestine	HCT15	8.7
Large intestine	HS675T	7.3
Large intestine	HS698T	8.2
Large intestine	HT115	7.8
Large intestine	HT29	7.8
Large intestine	HT55	7.4
Large intestine	KM12	7.7
Large intestine	LOVO	7
Large intestine	LS1034	7.9
Large intestine	LS123	8.4
Large intestine	LS180	7.4
Large intestine	LS411N	7.4
Large intestine	LS513	6.9
Large intestine	MDST8	8
Large intestine	NCIH508	7.7
Large intestine	NCIH716	7.9
Large intestine	NCIH747	7.4
Large intestine	OUMS23	8.7
Large intestine	RCM1	8.1
Large intestine	RKO	6.6
Large intestine	SKCO1	8.6
Large intestine	SNU1040	8.2
Large intestine	SNU1197	8.4
Large intestine	SNU175	7.1
Large intestine	SNU283	8
Large intestine	SNU407	7.9
Large intestine	SNU503	9
Large intestine	SNU61	8.4
Large intestine	SNU81	9
Large intestine	SNUC1	7.9
Large intestine	SNUC2A	7.5
Large intestine	SNUC4	7.2
Large intestine	SNUC5	7.8
Large intestine	SW1116	8
Large intestine	SW1417	8.1
Large intestine	SW1463	8.5
Large intestine	SW403	7.4
Large intestine	SW480	7.4
Large intestine	SW48	7.5
Large intestine	SW620	8.3
Large intestine	SW837	7.7
Large intestine	SW948	7.4
Large intestine	T84	8.4
Liver	ALEXANDERCELLS	7.8
Liver	C3A	7.4
Liver	HEP3B217	8.6
Liver	HEPG2	8.4
Liver	HLE	7.8
Liver	HLF	8
Liver	HUH1	8.5
Liver	HUH6	8
Liver	HUH7	8.2
Liver	JHH1	8.4
Liver	JHH2	8.8
Liver	JHH4	7.9
Liver	JHH5	8.1
Liver	JHH6	7.2
Liver	JHH7	8.1
Liver	LI7	8.5
Liver	PLCPRF5	7.9
Liver	SKHEP1	7.7
Liver	SNU182	8.1
Liver	SNU387	7.5
Liver	SNU398	8.6
Liver	SNU423	8.1
Liver	SNU449	8.6
Liver	SNU475	8.5
Liver	SNU761	8.8
Liver	SNU878	8.6
Liver	SNU886	8
Lung	A549	8.1
Lung	ABC1	8.4
Lung	BEN	8.4
Lung	CAL12T	8.2
Lung	CALU1	8.2
Lung	CALU3	8.2
Lung	CALU6	8.5
Lung	CHAGOK1	7.2
Lung	COLO668	8.4
Lung	COLO699	7.9
Lung	CORL105	8.2
Lung	CORL23	8.8
Lung	CORL24	8.3
Lung	CORL279	9.1
Lung	CORL311	7.5
Lung	CORL47	7.5
Lung	CORL51	8.3
Lung	CORL88	8.5
Lung	CORL95	8
Lung	CPCN	8.2
Lung	DMS114	8.1
Lung	DMS153	8.4
Lung	DMS273	7.6
Lung	DMS454	6.8
Lung	DMS53	6.8
Lung	DMS79	9.1
Lung	DV90	7.6
Lung	EBC1	7.8
Lung	EPLC272H	8.8
Lung	HARA	8
Lung	HCC1171	7.9
Lung	HCC1195	9.3
Lung	HCC15	8
Lung	HCC2279	8.1
Lung	HCC2935	8.9
Lung	HCC33	9.1
Lung	HCC366	7.6
Lung	HCC4006	7.7
Lung	HCC44	8.6
Lung	HCC78	8.5
Lung	HCC827	8.9
Lung	HCC95	7.5
Lung	HLC1	7.7
Lung	HLFA	7.7
Lung	HS229T	7.7
Lung	HS618T	7.5
Lung	IALM	8.4
Lung	KNS62	8.4
Lung	LC1F	8
Lung	LC1SQSF	7.7
Lung	LCLC103H	7.5
Lung	LCLC97TM1	8.2
Lung	LK2	8.7
Lung	LOUNH91	7.1
Lung	LU65	7.5
Lung	LU99	7.8
Lung	LUDLU1	8.1
Lung	LXF289	8.3
Lung	MORCPR	8
Lung	NCIH1048	8.2
Lung	NCIH1092	8
Lung	NCIH1105	8.5
Lung	NCIH1155	8.2
Lung	NCIH1184	7.8
Lung	NCIH1299	8.1
Lung	NCIH1339	7.8
Lung	NCIH1341	8.3
Lung	NCIH1355	8.1
Lung	NCIH1373	8.6
Lung	NCIH1385	9.1
Lung	NCIH1395	8.1
Lung	NCIH1435	8.3
Lung	NCIH1436	8
Lung	NCIH1437	8.4
Lung	NCIH146	8
Lung	NCIH1563	8.4
Lung	NCIH1568	7.8
Lung	NCIH1573	8.5
Lung	NCIH1581	9.2
Lung	NCIH1618	8.4
Lung	NCIH1623	8.6
Lung	NCIH1648	8.8
Lung	NCIH1650	7.1
Lung	NCIH1651	7.9
Lung	NCIH1666	8.2
Lung	NCIH1693	7.6
Lung	NCIH1694	8.9
Lung	NCIH1703	8.1
Lung	NCIH1734	8.2
Lung	NCIH1755	7.8
Lung	NCIH1781	9.3
Lung	NCIH1792	8.8
Lung	NCIH1793	8.3
Lung	NCIH1836	8.8
Lung	NCIH1838	8.3
Lung	NCIH1869	7.9
Lung	NCIH1876	8.2
Lung	NCIH1915	7.7
Lung	NCIH1930	8.1
Lung	NCIH1944	7.3
Lung	NCIH1963	8.7
Lung	NCIH196	8.7
Lung	NCIH1975	8.2
Lung	NCIH2009	8.4
Lung	NCIH2023	7.2
Lung	NCIH2029	8.5
Lung	NCIH2030	9.1
Lung	NCIH2066	8.9
Lung	NCIH2081	7.7
Lung	NCIH2085	8.6
Lung	NCIH2087	8.4
Lung	NCIH209	8.9
Lung	NCIH2106	8.3
Lung	NCIH2110	7.1
Lung	NCIH211	8.5
Lung	NCIH2122	8.3
Lung	NCIH2126	8.3
Lung	NCIH2141	9.4
Lung	NCIH2170	8.8
Lung	NCIH2171	10.5
Lung	NCIH2172	8
Lung	NCIH2196	8.9
Lung	NCIH2227	8.4
Lung	NCIH2228	8
Lung	NCIH226	8.2
Lung	NCIH2286	8.1
Lung	NCIH2291	8
Lung	NCIH2342	8.1
Lung	NCIH2347	8.3
Lung	NCIH23	8.5
Lung	NCIH2405	8.1
Lung	NCIH2444	8.9
Lung	NCIH292	8.3
Lung	NCIH322	8.2
Lung	NCIH3255	8.8
Lung	NCIH358	8.7
Lung	NCIH441	8.8
Lung	NCIH446	8.9
Lung	NCIH460	8.1
Lung	NCIH510	8.3
Lung	NCIH520	8.4
Lung	NCIH522	8.9
Lung	NCIH524	8.6
Lung	NCIH526	8.6
Lung	NCIH596	8.1
Lung	NCIH647	7.5
Lung	NCIH650	8
Lung	NCIH661	8.2
Lung	NCIH69	8.3
Lung	NCIH727	8.2
Lung	NCIH810	8.9
Lung	NCIH82	8.1
Lung	NCIH838	7.6
Lung	NCIH841	8.6
Lung	NCIH854	8.4
Lung	NCIH889	8.1
Lung	PC14	7.6
Lung	RERFLCAD1	8.5
Lung	RERFLCAD2	7.5
Lung	RERFLCAI	7.6
Lung	RERFLCKJ	7.5
Lung	RERFLCMS	7.9
Lung	RERFLCSQ1	7.1
Lung	SBC5	7.8
Lung	SCLC21H	8.3
Lung	SHP77	9
Lung	SKLU1	8.8
Lung	SKMES1	8.3
Lung	SQ1	8
Lung	SW1271	8.5
Lung	SW1573	7.4
Lung	SW900	8
Lung	VMRCLCD	8.6
Lung	VMRCLCP	8.8
Oesophagus	COLO680N	9.3
Oesophagus	ECGI10	8.5
Oesophagus	KYSE140	8.7
Oesophagus	KYSE150	8.1
Oesophagus	KYSE180	9.4
Oesophagus	KYSE270	8.5
Oesophagus	KYSE30	8.2
Oesophagus	KYSE410	8.7
Oesophagus	KYSE450	7.6
Oesophagus	KYSE510	9
Oesophagus	KYSE520	8.1
Oesophagus	KYSE70	7.5
Oesophagus	OE19	8.3
Oesophagus	OE33	7.8
Oesophagus	TE10	9.8
Oesophagus	TE11	8.5
Oesophagus	TE14	8.6
Oesophagus	TE15	8.4
Oesophagus	TE1	8
Oesophagus	TE4	8.2
Oesophagus	TE5	8.4
Oesophagus	TE6	8.8
Oesophagus	TE8	8.6
Oesophagus	TE9	8.8
Oesophagus	TT	8.8
Ovary	59M	8.6
Ovary	A2780	8.7
Ovary	CAOV3	8.5
Ovary	CAOV4	7.5
Ovary	COLO704	8.2
Ovary	COV318	8.8
Ovary	COV362	6.8
Ovary	COV434	7.5
Ovary	COV504	7.4
Ovary	COV644	6.7
Ovary	EFO21	7.8
Ovary	EFO27	8.2
Ovary	ES2	7.8
Ovary	FUOV1	8.5
Ovary	HEYA8	7.5
Ovary	HS571T	7.9
Ovary	IGROV1	8.1
Ovary	JHOC5	7.8
Ovary	JHOM1	9.1
Ovary	JHOM2B	7.7
Ovary	JHOS2	6.7
Ovary	JHOS4	8.4
Ovary	KURAMOCHI	8.8
Ovary	MCAS	8.3
Ovary	NIHOVCAR3	7.8
Ovary	OAW28	7.4
Ovary	OAW42	7.8
Ovary	OC314	8
Ovary	OC316	7.7
Ovary	ONCODG1	8
Ovary	OV56	7.9
Ovary	OV7	7.8
Ovary	OV90	8.7
Ovary	OVCAR4	7.7
Ovary	OVCAR8	8
Ovary	OVISE	7.7
Ovary	OVK18	8.1
Ovary	OVKATE	7.9
Ovary	OVMANA	8.5
Ovary	OVSAHO	7.8
Ovary	OVTOKO	8
Ovary	RMGI	8.1
Ovary	RMUGS	8.1
Ovary	SKOV3	7.8
Ovary	SNU119	8.5
Ovary	SNU840	8.9
Ovary	SNU8	8.6
Ovary	TOV112D	9.9
Ovary	TOV21G	8
Ovary	TYKNU	8
Pancreas	ASPC1	7.8
Pancreas	BXPC3	7.7
Pancreas	CAPAN1	9
Pancreas	CAPAN2	8.4
Pancreas	CFPAC1	9.2
Pancreas	DANG	8.1
Pancreas	HPAC	8.9
Pancreas	HPAFII	8.7
Pancreas	HS766T	8.3
Pancreas	HUPT3	9.1
Pancreas	HUPT4	8.3
Pancreas	KCIMOH1	8.1
Pancreas	KLM1	8.1
Pancreas	KP2	8.1
Pancreas	KP3	6.2
Pancreas	KP4	8.4
Pancreas	L33	8.3
Pancreas	MIAPACA2	9.5
Pancreas	PANC0203	8.4
Pancreas	PANC0213	9
Pancreas	PANC0327	8.8
Pancreas	PANC0403	8.2
Pancreas	PANC0504	8.4
Pancreas	PANC0813	9.1
Pancreas	PANC1005	8.7
Pancreas	PANC1	7.3
Pancreas	PATU8902	7.7
Pancreas	PATU8988S	6.9
Pancreas	PATU8988T	7.6
Pancreas	PK1	8.2
Pancreas	PK45H	7.9
Pancreas	PK59	8.5
Pancreas	PL45	8.4
Pancreas	PSN1	8.6
Pancreas	QGP1	7.8
Pancreas	SNU213	8.3
Pancreas	SNU324	7.8
Pancreas	SNU410	8.6
Pancreas	SU8686	7.9
Pancreas	SUIT2	7.5
Pancreas	SW1990	7.7
Pancreas	T3M4	7.9
Pancreas	TCCPAN2	7.5
Pancreas	YAPC	8.5
Pleura	ACCMESO1	6.8
Pleura	DM3	7.8
Pleura	ISTMES1	8.3
Pleura	ISTMES2	8.3
Pleura	JL1	8
Pleura	MPP89	7.8
Pleura	MSTO211H	7.7
Pleura	NCIH2052	7.4
Pleura	NCIH2452	7.6
Pleura	NCIH28	7.5
Prostate	22RV1	7.4
Prostate	DU145	8.2
Prostate	LNCAPCLONEFGC	7.6
Prostate	MDAPCA2B	8.2
Prostate	NCIH660	8.2
Prostate	PC3	8.5
Prostate	VCAP	8.1
Salivary gland	A253	7.2
Salivary gland	YD15	8.6
Skin	A101D	7.6
Skin	A2058	8.3
Skin	A375	8.1
Skin	C32	8
Skin	CHL1	8.8
Skin	CJM	8.3
Skin	COLO679	8.2
Skin	COLO741	7.4
Skin	COLO783	7.7
Skin	COLO792	7.3
Skin	COLO800	8.2
Skin	COLO818	7.3
Skin	COLO829	8.5
Skin	COLO849	8.9
Skin	G361	7.5
Skin	GRM	8.4
Skin	HMCB	8.7
Skin	HS294T	8
Skin	HS600T	7.4
Skin	HS688AT	7.7
Skin	HS695T	7.7
Skin	HS839T	7.3
Skin	HS852T	8.1
Skin	HS895T	7.2
Skin	HS934T	7.7
Skin	HS936T	7.7
Skin	HS939T	7.9
Skin	HS940T	7.8
Skin	HS944T	8.5
Skin	HT144	8.1
Skin	IGR1	7.9
Skin	IGR37	7.7
Skin	IGR39	8
Skin	IPC298	7.9
Skin	K029AX	7.6
Skin	LOXIMVI	8.2
Skin	MALME3M	8
Skin	MDAMB435S	6.7
Skin	MELHO	8.1
Skin	MELJUSO	8.1
Skin	MEWO	7.7
Skin	RPMI7951	7.4
Skin	RVH421	7.5
Skin	SH4	7.8
Skin	SKMEL1	7.8
Skin	SKMEL24	8.3
Skin	SKMEL28	7.6
Skin	SKMEL2	8.1
Skin	SKMEL30	8
Skin	SKMEL31	7.1
Skin	SKMEL3	8
Skin	SKMEL5	7.9
Skin	UACC257	8
Skin	UACC62	8.7
Skin	WM115	8.1
Skin	WM1799	7.4
Skin	WM2664	8.2
Skin	WM793	8
Skin	WM88	7.7
Skin	WM983B	7
Small intestine	HUTU80	8.2
Soft tissue	A204	8.1
Soft tissue	G401	8.6
Soft tissue	G402	8.1
Soft tissue	GCT	8.5
Soft tissue	HS729	8
Soft tissue	HT1080	8.1
Soft tissue	KYM1	9.1
Soft tissue	MESSA	8.4
Soft tissue	RD	8.3
Soft tissue	RH30	8.9
Soft tissue	RH41	9
Soft tissue	RKN	8.6
Soft tissue	S117	8.2
Soft tissue	SJRH30	8.5
Soft tissue	SKLMS1	8.1
Soft tissue	SKUT1	7.7
Soft tissue	TE125T	7.4
Soft tissue	TE159T	7.8
Soft tissue	TE441T	8.4
Soft tissue	TE617T	8.1
Stomach	2313287	7.8
Stomach	AGS	8.8
Stomach	AZ521	8.3
Stomach	ECC10	8.5
Stomach	ECC12	9
Stomach	FU97	7.8
Stomach	GCIY	7.6
Stomach	GSS	7.3
Stomach	GSU	8.4
Stomach	HGC27	8.1
Stomach	HS746T	8.4
Stomach	HUG1N	7.4
Stomach	IM95	7.6
Stomach	KATOIII	7.7
Stomach	KE39	7.8
Stomach	LMSU	8.4
Stomach	MKN1	7.7
Stomach	MKN45	8.7
Stomach	MKN74	8
Stomach	MKN7	8.6
Stomach	NCCSTCK140	8.7
Stomach	NCIN87	7.6
Stomach	NUGC2	7.8
Stomach	NUGC3	8.2
Stomach	NUGC4	7.7
Stomach	OCUM1	8.8
Stomach	RERFGC1B	8.6
Stomach	SH10TC	7.6
Stomach	SNU16	8.7
Stomach	SNU1	7.5
Stomach	SNU216	8.5
Stomach	SNU520	7.5
Stomach	SNU5	7.5
Stomach	SNU601	8.3
Stomach	SNU620	8
Stomach	SNU668	8.4
Stomach	SNU719	8.6
Stomach	TGBC11TKB	8
Thyroid	8305C	8.5
Thyroid	8505C	8.1
Thyroid	BCPAP	8.6
Thyroid	BHT101	7.8
Thyroid	CAL62	8.6
Thyroid	CGTHW1	8.1
Thyroid	FTC133	8.1
Thyroid	FTC238	7.2
Thyroid	ML1	8.9
Thyroid	SW579	8.3
Thyroid	TT2609C02	8.3
Thyroid	TT	8.8
Upper aerodigestive tract	BHY	8.4
Upper aerodigestive tract	BICR16	8.2
Upper aerodigestive tract	BICR18	8.7
Upper aerodigestive tract	BICR22	8
Upper aerodigestive tract	BICR31	6.9
Upper aerodigestive tract	BICR56	8.4
Upper aerodigestive tract	BICR6	8.7
Upper aerodigestive tract	CAL27	8.3
Upper aerodigestive tract	CAL33	8.1
Upper aerodigestive tract	DETROIT562	8.6
Upper aerodigestive tract	FADU	8.7
Upper aerodigestive tract	HS840T	7.6
Upper aerodigestive tract	HSC2	7.3
Upper aerodigestive tract	HSC3	8.2
Upper aerodigestive tract	HSC4	8.5
Upper aerodigestive tract	PECAPJ15	8.1
Upper aerodigestive tract	PECAPJ34CLONEC12	8.7
Upper aerodigestive tract	PECAPJ41CLONED2	7.8
Upper aerodigestive tract	PECAPJ49	7.9
Upper aerodigestive tract	SCC15	8.3
Upper aerodigestive tract	SCC25	8.9
Upper aerodigestive tract	SCC4	8.3
Upper aerodigestive tract	SCC9	8.6
Upper aerodigestive tract	SNU1076	7.4
Upper aerodigestive tract	SNU1214	7.8
Upper aerodigestive tract	SNU46	9
Upper aerodigestive tract	SNU899	8.2
Upper aerodigestive tract	YD10B	8.6
Upper aerodigestive tract	YD38	8
Upper aerodigestive tract	YD8	9.3
Urinary tract	5637	8.1
Urinary tract	639V	8.7
Urinary tract	647V	8.2
Urinary tract	BC3C	8.2
Urinary tract	BFTC905	8.6
Urinary tract	CAL29	8.2
Urinary tract	HS172T	7.7
Urinary tract	HT1197	7.2
Urinary tract	HT1376	7.8
Urinary tract	J82	8.3
Urinary tract	JMSU1	8.7
Urinary tract	KMBC2	8.2
Urinary tract	KU1919	8.6
Urinary tract	RT11284	7.7
Urinary tract	RT112	8.3
Urinary tract	RT4	8.4
Urinary tract	SCABER	8.8
Urinary tract	SW1710	7.4
Urinary tract	SW780	8.7
Urinary tract	T24	8.2
Urinary tract	TCCSUP	7
Urinary tract	UMUC1	8.5
Urinary tract	UMUC3	8.4
Urinary tract	VMCUB1	8.6

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	14.7
Adrenal gland	12.6
Appendix	20.5
Bone marrow	26.2
Breast	19.3
Cerebral cortex	24.9
Cervix, uterine	19.4
Colon	12.4
Duodenum	10.5
Endometrium	24.2
Epididymis	12.9
Esophagus	13.9
Fallopian tube	22
Gallbladder	16.9
Heart muscle	6.2
Kidney	11.9
Liver	5.3
Lung	22.1
Lymph node	22.5
Ovary	21.8
Pancreas	2.1
Parathyroid gland	46.2
Placenta	18
Prostate	22.2
Rectum	15.3
Salivary gland	4.7
Seminal vesicle	17.1
Skeletal muscle	5.7
Skin	25.1
Small intestine	11.6
Smooth muscle	23
Spleen	24
Stomach	11.8
Testis	26.2
Thyroid gland	26.2
Tonsil	17.2
Urinary bladder	13.7

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
25499215	Underexpression	Prostate Carcinoma	HD8 expression was decreased in HGPIN, localized, and metastatic PCa compared to benign (P < .001). CHD8 promoter hypermethylation, assessed by Quantitative Pyrosequencing, occurred in over 45% of primary cancers in this population as well as the TGCA database.
23835524	Underexpression	Gastric Carcinoma	We analyzed the expression of CHD8 in cancer lesions and corresponding non-cancerous tissues to demonstrate the prognostic significance of CHD8 expression in 101 cases of gastric cancer. Expression of CHD8 mRNA was significantly lower in gastric cancer tissues compared to that in corresponding normal tissues (P=0.003).
21447119	Loss of expression	Colorectal Carcinoma; Gastric Carcinoma	Loss of CHD4 expression was observed in 56.4% of the GCs and 55.7% of the CRCs, and loss of CHD8 was observed in 35.7% of the GCs and 28.6% of the CRCs. The cancers with CHD4 and CHD8 mutations showed loss of CHD4 and CHD8 expression, respectively.

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.579	1.65e-37	28.7	51.7	19.6	Neutral
BRCA	Breast invasive carcinoma	1075	0.505	1.56e-70	22.5	59.5	18	Neutral
CESC	Cervical and endocervical cancers	292	0.604	2.29e-30	9.6	74.3	16.1	Neutral
COAD	Colon adenocarcinoma	449	0.538	4.24e-35	31.6	60.4	8	Neutral
ESCA	Esophageal carcinoma	183	0.61	4.82e-20	28.4	43.2	28.4	Neutral
GBM	Glioblastoma multiforme	147	0.581	1.26e-14	38.8	57.1	4.1	Loss
HNSC	Head and Neck squamous cell carcinoma	514	0.613	2.8e-54	14.2	57	28.8	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.524	2.67e-38	38.7	57.9	3.4	Loss
KIRP	Kidney renal papillary cell carcinoma	288	0.547	6.4e-24	17.4	81.6	1	Neutral
LAML	Acute Myeloid Leukemia	166	0.26	0.000713	0.6	98.2	1.2	Neutral
LGG	Brain Lower Grade Glioma	513	0.598	5.66e-51	13.3	84.4	2.3	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.436	2.36e-18	21.4	67.6	11	Neutral
LUAD	Lung adenocarcinoma	512	0.494	6.87e-33	19.5	47.5	33	Neutral
LUSC	Lung squamous cell carcinoma	498	0.601	3.71e-50	34.5	36.9	28.5	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.72	3.95e-49	28.3	46.7	25	Neutral
PAAD	Pancreatic adenocarcinoma	177	0.521	9.92e-14	10.7	72.3	16.9	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.489	3.95e-11	13	84.6	2.5	Neutral
PRAD	Prostate adenocarcinoma	491	0.235	1.46e-07	7.5	90.8	1.6	Neutral
READ	Rectum adenocarcinoma	164	0.644	1.45e-20	40.2	54.3	5.5	Loss
SARC	Sarcoma	255	0.627	2.86e-29	22	48.6	29.4	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.683	9.76e-52	30.2	58	11.7	Neutral
STAD	Stomach adenocarcinoma	413	0.461	4.17e-23	25.9	61.7	12.3	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.472	1.05e-09	13.3	52.7	34	Gain
THCA	Thyroid carcinoma	497	0.191	1.73e-05	0.2	97.6	2.2	Neutral
THYM	Thymoma	119	0.412	3.27e-06	1.7	87.4	10.9	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.444	2.3e-27	11.2	78.4	10.4	Neutral

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.306	1.41e-10	17	408	0.01	2.27e-05	NS/NA
BRCA	Breast invasive carcinoma	-0.177	1.6e-07	83	785	0	0.115	NS/NA
CESC	Cervical and endocervical cancers	-0.237	2.64e-05	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.417	2.29e-15	19	297	0.004	2.54e-06	NS/NA
ESCA	Esophageal carcinoma	-0.277	9.75e-05	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.285	0.0216	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.209	9.26e-07	20	522	-0.003	0.587	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.309	5.78e-09	24	319	0.013	6.86e-14	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.295	2.43e-07	23	275	0.019	0.000143	NS/NA
LAML	Acute Myeloid Leukemia	-0.181	0.0181	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.203	2.6e-06	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.139	0.00465	41	373	-0.023	3.58e-10	NS/NA
LUAD	Lung adenocarcinoma	-0.28	5.66e-10	21	456	-0.04	2.74e-09	NS/NA
LUSC	Lung squamous cell carcinoma	-0.288	1.33e-08	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.383	0.312	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.334	4.41e-06	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.22	0.00254	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.277	9.01e-11	35	498	-0.001	0.594	NS/NA
READ	Rectum adenocarcinoma	-0.516	5.19e-08	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.298	9.81e-07	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.233	3.23e-07	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.202	9.23e-05	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.375	1.7e-06	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.113	0.00743	50	509	0.001	0.727	NS/NA
THYM	Thymoma	-0.165	0.0688	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.194	2.54e-05	34	431	-0.001	0.0322	NS/NA

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA) [ TOP ]
There is no antibody staining data.

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.837	NS	24476821
BRCA	Breast invasive carcinoma	521	4.43e-16	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0145	Significant	22810696
GBM	Glioblastoma multiforme	157	0.00159	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.587	NS	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.694	NS	26536169
LGG	Brain Lower Grade Glioma	513	6.09e-20	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.389	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.518	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	4.16e-05	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.136	NS	26544944
READ	Rectum adenocarcinoma	67	0.514	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.00029	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.199	NS	25079317
THCA	Thyroid carcinoma	391	0.000816	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.544	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.528	0.0412	Shorter
BRCA	Breast invasive carcinoma	1079	0.997	0.99	NS
CESC	Cervical and endocervical cancers	291	2.437	0.0144	Shorter
COAD	Colon adenocarcinoma	439	1.009	0.976	NS
ESCA	Esophageal carcinoma	184	1.071	0.849	NS
GBM	Glioblastoma multiforme	158	0.657	0.107	NS
HNSC	Head and Neck squamous cell carcinoma	518	1.073	0.713	NS
KIRC	Kidney renal clear cell carcinoma	531	0.505	0.0028	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.694	0.387	NS
LAML	Acute Myeloid Leukemia	149	1.143	0.65	NS
LGG	Brain Lower Grade Glioma	511	0.336	1.68e-05	Longer
LIHC	Liver hepatocellular carcinoma	365	0.919	0.712	NS
LUAD	Lung adenocarcinoma	502	0.972	0.891	NS
LUSC	Lung squamous cell carcinoma	494	0.883	0.537	NS
OV	Ovarian serous cystadenocarcinoma	303	1.191	0.386	NS
PAAD	Pancreatic adenocarcinoma	177	0.933	0.807	NS
PCPG	Pheochromocytoma and Paraganglioma	179	4.541	0.138	NS
PRAD	Prostate adenocarcinoma	497	0	0.151	NS
READ	Rectum adenocarcinoma	159	1.152	0.848	NS
SARC	Sarcoma	259	1.345	0.296	NS
SKCM	Skin Cutaneous Melanoma	459	1.161	0.443	NS
STAD	Stomach adenocarcinoma	388	0.83	0.42	NS
TGCT	Testicular Germ Cell Tumors	134	0.519	0.586	NS
THCA	Thyroid carcinoma	500	3.321	0.256	NS
THYM	Thymoma	119	0.476	0.538	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.161	0.628	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.027	0.582	NS
BRCA	Breast invasive carcinoma	1071	0.012	0.686	NS
CESC	Cervical and endocervical cancers	167	0.105	0.177	NS
COAD	Colon adenocarcinoma	445	-0.009	0.844	NS
ESCA	Esophageal carcinoma	162	-0.038	0.627	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.02	0.668	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.188	1.26e-05	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.024	0.704	NS
LIHC	Liver hepatocellular carcinoma	347	0.055	0.307	NS
LUAD	Lung adenocarcinoma	507	-0.011	0.809	NS
LUSC	Lung squamous cell carcinoma	497	0.05	0.262	NS
OV	Ovarian serous cystadenocarcinoma	302	0.028	0.631	NS
PAAD	Pancreatic adenocarcinoma	176	-0.054	0.477	NS
READ	Rectum adenocarcinoma	156	0.006	0.937	NS
SKCM	Skin Cutaneous Melanoma	410	-0.109	0.0268	Lower
STAD	Stomach adenocarcinoma	392	0.091	0.0721	NS
TGCT	Testicular Germ Cell Tumors	81	-0.248	0.0256	Lower
THCA	Thyroid carcinoma	499	-0.032	0.478	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.025	0.577	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.029	0.633	NS
HNSC	Head and Neck squamous cell carcinoma	498	-0.052	0.251	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.142	0.00115	Lower
LGG	Brain Lower Grade Glioma	514	-0.072	0.103	NS
LIHC	Liver hepatocellular carcinoma	366	0.117	0.0254	Higher
OV	Ovarian serous cystadenocarcinoma	296	0.078	0.179	NS
PAAD	Pancreatic adenocarcinoma	176	0.028	0.717	NS
STAD	Stomach adenocarcinoma	406	-0.097	0.051	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.16	0.000212	Higher

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for CHD8.

Summary
Symbol	CHD8
Name	chromodomain helicase DNA binding protein 8
Aliases	KIAA1564; DUPLIN; HELSNF1; helicase with SNF2 domain 1; AUTS18; ATP-dependent helicase CHD8; axis duplicatio ......
Location	14q11.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining [ TOP ]
There is no record for CHD8.