Property Summary

NCBI Gene PubMed Count 36
PubMed Score 41.10
PubTator Score 35.45

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis -1.200 5.5e-04
astrocytoma 1.400 6.3e-03
diabetes mellitus -1.100 1.4e-03

Gene RIF (20)

PMID Text
26626481 Study provides evidence that links the CHD8 chromatin remodeler to the cancer maintenance functions of BRD4 and NSD3.
25989142 CHD8 insufficiency results in altered gene expression of coding genes and noncoding RNAs. The changes among protein-coding genes involved genes that are enriched in neuronal development and in previously identified autism candidate genes.
25894978 Taken together our data demonstrate that CHD8 is involved in late stages of progesterone receptor enhancers activation.
25752243 Loss of CHD8 contributes to autism spectrum disorder by perturbing an ancient gene regulatory network during human brain development.
25499215 In the first detailed analysis in cancer, a marked loss of CHD8 expression and increased BORIS/CTCF ratio indicate frequent disruption of CTCF and its effector genes in PCa.
25294932 CHD8 precipitates a network of gene-expression changes involved in neurodevelopmental pathways in which many autism spectrum disorder-associated genes may converge on shared mechanisms of pathogenesis
25257502 Recurrent approximately 100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
24998929 indings suggest that CHD8 disruptions represent a specific pathway in the development of Autism spectrum disorder (ASD) and define a distinct ASD subtype. Common phenotypic features include increased head size; a facial phenotype marked by prominent forehead, wide-set eyes, and pointed chin; as well as increased rates of GI complaints and marked sleep dysfunction.
24265227 CHD8 is required for E2F-dependent transcription activation of S-phase genes
24211491 Genes that regulate chromatin were mutated in CpG island methylator phenotype 1 colorectal carcinoma; the highest rates of mutation were observed in CHD7 and CHD8.
23835524 Loss of CHD8 expression is associated with aggressiveness in gastric cancer.
22495311 results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors
22083958 CHD8 promotes the association of beta-catenin and histone H1, with formation of the trimeric complex on chromatin being required for inhibition of beta-catenin-dependent transactivation.
20453063 Disruption of the direct CHD7-CHD8 interaction might chang the conformation of a putative large complex and could be a disease mechanism in CHARGE syndrome.
20308527 The recruitment of AR to the TMPRSS2 promoter in response to androgen treatment requires CHD8.
20215423 This study provides evidence of a novel interaction between BRCA1 and beta-catenin, and that loss of BRCA1 leads to impaired expression of the nuclear form of beta-catenin, which may contribute to the pathogenesis of breast cancer.
20085832 Results show that Depletion of CHD8 enhances HOXA2 expression and a loss of the WDR5/Ash2L/RbBP5 subcomplex.
19255092 CHD8 interacts with elongating RNA polymerase II and controls expression of CCNE2 and TYMS genes.
18378692 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes
17938208 Staf activates U6 transcription from a preassembled chromatin template in vitro and associates with several proteins linked to chromatin modification, among them chromodomain-helicase-DNA binding protein 8 (CHD8).

AA Sequence

MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGNSSASELVPPP      1 - 70
EETAPTELSKESTAPAPESITLHDYTTQPASQEQPAQPVLQTSTPTSGLLQVSKSQEILSQGNPFMGVSA     71 - 140
TAVSSSSAGGQPPQSAPKIVILKAPPSSSVTGAHVAQIQAQGITSTAQPLVAGTANGGKVTFTKVLTGTP    141 - 210
LRPGVSIVSGNTVLAAKVPGNQAAVQRIVQPSRPVKQLVLQPVKGSAPAGNPGATGPPLKPAVTLTSTPT    211 - 280
QGESKRITLVLQQPQSGGPQGHRHVVLGSLPGKIVLQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQK    281 - 350
IQIVPQPPSSQPQPQQPPSTQPVTLSSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVK    351 - 420
VLSASEVAALSSPASSAPHSGGKTGMEENRRLEHQKKQEKANRIVAEAIARARARGEQNIPRVLNEDELP    421 - 490
SVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGASKTKGKSKLNTITPVVGKKRKRNTSSDNSDVEVMPA    491 - 560
QSPREDEESSIQKRRSNRQVKRKKYTEDLDIKITDDEEEEEVDVTGPIKPEPILPEPVQEPDGETLPSMQ    561 - 630
FFVENPSEEDAAIVDKVLSMRIVKKELPSGQYTEAEEFFVKYKNYSYLHCEWATISQLEKDKRIHQKLKR    631 - 700
FKTKMAQMRHFFHEDEEPFNPDYVEVDRILDESHSIDKDNGEPVIYYLVKWCSLPYEDSTWELKEDVDEG    701 - 770
KIREFKRIQSRHPELKRVNRPQASAWKKLELSHEYKNRNQLREYQLEGVNWLLFNWYNRQNCILADEMGL    771 - 840
GKTIQSIAFLQEVYNVGIHGPFLVIAPLSTITNWEREFNTWTEMNTIVYHGSLASRQMIQQYEMYCKDSR    841 - 910
GRLIPGAYKFDALITTFEMILSDCPELREIEWRCVIIDEAHRLKNRNCKLLDSLKHMDLEHKVLLTGTPL    911 - 980
QNTVEELFSLLHFLEPSQFPSESEFLKDFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKQETIIE    981 - 1050
VELTNIQKKYYRAILEKNFSFLSKGAGHTNMPNLLNTMMELRKCCNHPYLINGAEEKILTEFREACHIIP   1051 - 1120
HDFHLQAMVRSAGKLVLIDKLLPKLKAGGHKVLIFSQMVRCLDILEDYLIQRRYLYERIDGRVRGNLRQA   1121 - 1190
AIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITR   1191 - 1260
NSYEREMFDKASLKLGLDKAVLQSMSGRDGNITGIQQFSKKEIEDLLRKGAYAAIMEEDDEGSKFCEEDI   1261 - 1330
DQILLRRTTTITIESEGKGSTFAKASFVASENRTDISLDDPNFWQKWAKKADLDMDLLNSKNNLVIDTPR   1331 - 1400
VRKQTRHFSTLKDDDLVEFSDLESEDDERPRSRRHDRHHAYGRTDCFRVEKHLLVYGWGRWRDILSHGRF   1401 - 1470
KRRMTERDVETICRAILVYCLLHYRGDENIKGFIWDLISPAENGKTKELQNHSGLSIPVPRGRKGKKVKS   1471 - 1540
QSTFDIHKADWIRKYNPDTLFQDESYKKHLKHQCNKVLLRVRMLYYLRQEVIGDQAEKVLGGAIASEIDI   1541 - 1610
WFPVVDQLEVPTTWWDSEADKSLLIGVFKHGYEKYNTMRADPALCFLEKAGRPDDKAIAAEHRVLDNFSD   1611 - 1680
IVEGVDFDKDCEDPEYKPLQGPPKDQDDEGDPLMMMDEEISVIDGDEAQVTQQPGHLFWPPGSALTARLR   1681 - 1750
RLVTAYQRSYKREQMKIEAAERGDRRRRRCEAAFKLKEIARREKQQRWTRREQTDFYRVVSTFGVEYDPD   1751 - 1820
TMQFHWDRFRTFARLDKKTDESLTKYFHGFVAMCRQVCRLPPAAGDEPPDPNLFIEPITEERASRTLYRI   1821 - 1890
ELLRRLREQVLCHPLLEDRLALCQPPGPELPKWWEPVRHDGELLRGAARHGVSQTDCNIMQDPDFSFLAA   1891 - 1960
RMNYMQNHQAGAPAPSLSRCSTPLLHQQYTSRTASPLPLRPDAPVEKSPEETATQVPSLESLTLKLEHEV   1961 - 2030
VARSRPTPQDYEMRVSPSDTTPLVSRSVPPVKLEDEDDSDSELDLSKLSPSSSSSSSSSSSSSSTDESED   2031 - 2100
EKEEKLTDQSRSKLYDEESLLSLTMSQDGFPNEDGEQMTPELLLLQERQRASEWPKDRVLINRIDLVCQA   2101 - 2170
VLSGKWPSSRRSQEMVTGGILGPGNHLLDSPSLTPGEYGDSPVPTPRSSSAASMAEEEASAVSTAAAQFT   2171 - 2240
KLRRGMDEKEFTVQIKDEEGLKLTFQKHKLMANGVMGDGHPLFHKKKGNRKKLVELEVECMEEPNHLDVD   2241 - 2310
LETRIPVINKVDGTLLVGEDAPRRAELEMWLQGHPEFAVDPRFLAYMEDRRKQKWQRCKKNNKAELNCLG   2311 - 2380
MEPVQTANSRNGKKGHHTETVFNRVLPGPIAPESSKKRARRMRPDLSKMMALMQGGSTGSLSLHNTFQHS   2381 - 2450
SSGLQSVSSLGHSSATSASLPFMPFVMGGAPSSPHVDSSTMLHHHHHHPHPHHHHHHHPGLRAPGYPSSP   2451 - 2520
VTTASGTTLRLPPLQPEEDDDEDEEDDDDLSQGYDSSERDFSLIDDPMMPANSDSSEDADD            2521 - 2581
//

Text Mined References (50)

PMID Year Title
26626481 2015 NSD3-Short Is an Adaptor Protein that Couples BRD4 to the CHD8 Chromatin Remodeler.
25989142 2015 The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes.
25894978 2015 The chromatin Remodeler CHD8 is required for activation of progesterone receptor-dependent enhancers.
25752243 2015 The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.
25499215 2014 Frequent disruption of chromodomain helicase DNA-binding protein 8 (CHD8) and functionally associated chromatin regulators in prostate cancer.
25294932 2014 CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
25257502 2014 Recurrent ?100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.
24265227 2014 The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes.
24211491 2014 Colorectal carcinomas with CpG island methylator phenotype 1 frequently contain mutations in chromatin regulators.
23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/?-catenin signaling and the cell cycle in gastric cancer.
23285124 2012 Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-?-catenin signaling pathway.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20453063 2010 CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
20308527 2010 Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8.
20215423 2010 Wild-type BRCA1, but not mutated BRCA1, regulates the expression of the nuclear form of beta-catenin.
20085832 2010 Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19255092 2009 The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17938208 2007 CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription.
17545556 2007 Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16949368 2006 CTCF-dependent chromatin insulator is linked to epigenetic remodeling.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15960975 2005 Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15367660 2004 Early embryonic death in mice lacking the beta-catenin-binding protein Duplin.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11744694 2002 Nuclear localization of Duplin, a beta-catenin-binding protein, is essential for its inhibitory activity on the Wnt signaling pathway.
11549288 2001 M phase-specific association of human topoisomerase IIIbeta with chromosomes.
10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10921920 2000 A novel beta-catenin-binding protein inhibits beta-catenin-dependent Tcf activation and axis formation.
7505766 1994 Expression of (cac)n/(gtg)n simple repetitive sequences in mRNA of human lymphocytes.