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CHD8 Gene

protein-coding   GIFtS: 59
GCID: GC14M021853

Chromodomain Helicase DNA Binding Protein 8

(Previous name: helicase with SNF2 domain 1)
(Previous symbol: HELSNF1)
  See CHD8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromodomain Helicase DNA Binding Protein 81 2     Chromodomain-Helicase-DNA-Binding Protein 82
Helicase With SNF2 Domain 11 2 3     duplin2
HELSNF11 2 3     CHD-83
ATP-Dependent Helicase CHD82 3     EC 3.6.4.123
AUTS182 5     DUPLIN5
KIAA15643 5     EC 3.6.18
Axis Duplication Inhibitor2     EC 3.6.1.78

External Ids:    HGNC: 201531   Entrez Gene: 576802   Ensembl: ENSG000001008887   OMIM: 6105285   UniProtKB: Q9HCK83   

Export aliases for CHD8 gene to outside databases

Previous GC identifers: GC14M019844 GC14M020923 GC14M001973


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHD8 Gene:
This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It
binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early
development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, May 2010)

GeneCards Summary for CHD8 Gene:
CHD8 (chromodomain helicase DNA binding protein 8) is a protein-coding gene. Diseases associated with CHD8 include autism 18, and charge syndrome. GO annotations related to this gene include histone binding and p53 binding. An important paralog of this gene is CHD6.

UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8
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

Gene Wiki entry for CHD8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHD8 gene promoter:
         c-Fos   AP-1   HOXA5   STAT3   c-Jun   Nkx2-5   HNF-4alpha2   POU3F2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHD8 promoter sequence
   Search Chromatin IP Primers for CHD8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHD8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

CHD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHD8 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M021853:  view genomic region     (about GC identifiers)

Start:
21,853,353 bp from pter      End:
21,924,285 bp from pter
Size:
70,933 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8 (See protein sequence)
Recommended Name: Chromodomain-helicase-DNA-binding protein 8  
Size: 2581 amino acids; 290519 Da
Subunit: Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at least
composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative
components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31,
RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with CHD7
Miscellaneous: Its gene is located in the 14q11.2 region of the genome which is associated with developmental
delay, cognitive impairment and similar minor anomalies in some children, suggesting that it may be a good
candidate for the phenotype
2 PDB 3D structures from and Proteopedia for CHD8:
2CKA (3D)        2DL6 (3D)    
Secondary accessions: Q4G0D8 Q68DQ0 Q6DKH9 Q6P440 Q6ZNL7 Q8N3Z9 Q8NCY4 Q8TBR9 Q96F26
Alternative splicing: 2 isoforms:  Q9HCK8-1   Q9HCK8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHD8: NX_Q9HCK8

Explore proteomics data for CHD8 at MOPED

Post-translational modifications: 

  • Sumoylated (By similarity)1
  • Ubiquitination2 at Lys328
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHD8 (Q9HCK8) (see all 66)
     QPAQPVL  GAEEKIL  KASFVAS  KASLKLG 


    See CHD8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001164100.1  NP_065971.2  

    ENSEMBL proteins: 
     ENSP00000406288   ENSP00000451601   ENSP00000451071   ENSP00000451442   ENSP00000450860  
     ENSP00000450957   ENSP00000382863  

    CHD8 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CHD8
    GenScript Custom Purified and Recombinant Proteins Services for CHD8
    Novus Biologicals CHD8 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHD8

     
    Search eBioscience for Proteins for CHD8 

    CHD8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for CHD8
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    LSBio Antibodies in human, mouse, rat for CHD8

    CHD8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CHD8
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    Search eBioscience for ELISAs for CHD8 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR000953 Chromo_domain/shadow
     IPR000330 SNF2_N
     IPR023780 Chromo_domain
     IPR016197 Chromodomain-like
     IPR006576 BRK_domain

    Graphical View of Domain Structure for InterPro Entry Q9HCK8

    ProtoNet protein and cluster: Q9HCK8

    4 Blocks protein domains:
    IPB000330 SNF2 related domain
    IPB000953 Chromo domain
    IPB002464 ATP-dependent helicase
    IPB006576 Domain in transcription and CHROMO domain helicase


    UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8
    Similarity: Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily
    Similarity: Contains 2 chromo domains
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with CHD8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHD8_HUMAN, Q9HCK8
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.1.72 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding ISS--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IMP18378692
    GO:0003678DNA helicase activity IMP18378692
    GO:0004386helicase activity ----
         
    Find genes that share ontologies with CHD8           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CHD8:
     Increased HPV18 LCR reporter a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chd8):
     cellular  embryogenesis  mortality/aging 

    Find genes that share phenotypes with CHD8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chd8tm1Kei for CHD8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHD8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHD8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHD8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHD8

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHD8:
    hsa-mir-615-3p (MIRT039940), hsa-mir-877-5p (MIRT037268), hsa-mir-24-3p (MIRT030570), hsa-mir-423-5p (MIRT038139), hsa-mir-1296-5p (MIRT036108)

    Block miRNA regulation of human, mouse, rat CHD8 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CHD8:
    hsa-miR-2355-5p hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidCHD8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHD8
    Predesigned siRNA for gene silencing in human, mouse, rat CHD8

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for CHD8 (see all 8)
    OriGene ORF clones in mouse, rat for CHD8
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    GenScript: all cDNA clones in your preferred vector: CHD8 (NM_016565)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CHD8_HUMAN, Q9HCK8: Nucleus. Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also
    present at known CTCF target sites
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0043234protein complex IDA18378692
    GO:0071339MLL1 complex IDA15960975

    Find genes that share ontologies with CHD8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHD8 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    2Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    3Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with CHD8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CHD8
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for CHD8
        Regulation of Wnt-mediated beta catenin signaling and target gene transcription


    1 Kegg Pathway  (Kegg details for CHD8):
        Wnt signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including CHD8: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHD8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHD8 (Q9HCK81, 2, 3 ENSP000004062884) via UniProtKB, MINT, STRING, and/or I2D (see all 873)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBBP5Q152911, 2, 3, ENSP000002645154EBI-1169146,EBI-592823 MINT-7542769 MINT-7945693 MINT-7542810 MINT-7947479 I2D: score=2 STRING: ENSP00000264515
    ASH2LQ9UBL31, 2, 3, ENSP000003408964EBI-1169146,EBI-540797 MINT-7542769 MINT-7542820 I2D: score=2 STRING: ENSP00000340896
    WDR5P619641, 2, 3, ENSP000003514464EBI-1169146,EBI-540834 MINT-7542769 MINT-7945693 MINT-7542794 I2D: score=2 STRING: ENSP00000351446
    RUVBL1Q9Y2652, ENSP000003182974MINT-7945693 MINT-7947479 STRING: ENSP00000318297
    CHD7Q9P2D11, 2, ENSP000003920284EBI-4410319,EBI-3951683 MINT-7945693 STRING: ENSP00000392028
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006200ATP catabolic process IDA18378692
    GO:0006351transcription, DNA-templated IEA--
    GO:0030178negative regulation of Wnt signaling pathway IDA18378692
    GO:0032508DNA duplex unwinding IMP18378692

    Find genes that share ontologies with CHD8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHD8



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CHD8 gene (2 alternative transcripts): 
    NM_001170629.1  NM_020920.3  

    Unigene Cluster for CHD8:

    Chromodomain helicase DNA binding protein 8
    Hs.530698  [show with all ESTs]
    Unigene Representative Sequence: NM_001170629
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430710(uc001wav.1 uc001was.2) ENST00000557727 ENST00000557364
    ENST00000553870 ENST00000555301 ENST00000557329 ENST00000555962 ENST00000555935
    ENST00000554384 ENST00000553283 ENST00000553622 ENST00000556833 ENST00000553651
    ENST00000399982(uc001war.2)
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CHD8:
    hsa-miR-2355-5p hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidCHD8 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHD8 (NM_016565)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHD8
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD8
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHD8
      QuantiTect SYBR Green Assays in human, mouse, rat CHD8
      QuantiFast Probe-based Assays in human, mouse, rat CHD8

    Additional mRNA sequence: 

    AB046784.3 AK056639.1 AK098408.1 AK122868.1 AK122910.1 AK131077.1 AL834524.1 BC011695.2 
    BC025964.1 BC036920.1 BC040636.1 BC063693.1 BC073903.1 BC098452.1 CR749315.1 U00930.1 
    U00955.1 

    21 DOTS entries:

    DT.97818710  DT.416688  DT.120756800  DT.101984323  DT.101984325  DT.91641453  DT.121642531  DT.97771152 
    DT.100777582  DT.95260982  DT.85105367  DT.100702213  DT.120756655  DT.120756697  DT.120756803  DT.121611975 
    DT.75123471  DT.86859716  DT.95136464  DT.40208183  DT.91748922 

    Selected AceView cDNA sequences (see all 265):

    BG681337 AL705515 AU121121 AU185347 BM724579 T56603 BC011695 AW469596 
    BM971723 BC063693 BC073903 AI569333 AI279059 BU166160 T50517 AB046784 
    BM452650 AI369421 AI989328 AW342141 AL834524 AI659798 CR749315 BM824777 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHD8 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                        -                                                                                                   
    SP2:        -                                               -                                                                                                   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38
    SP1:  -                                                     -                                                                     
    SP2:  -                                                     -                                                                     
    SP3:                                                                                                                              
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for CHD8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCCCATTG
    CHD8 Expression
    About this image


    CHD8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Spleen (Hematopoietic System)
    CHD8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHD8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.530698
        Pathway & Disease-focused RT2 Profiler PCR Array including CHD8: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CHD8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chd81 , 5 chromodomain helicase DNA binding protein 81, 5 90.6(n)1
    96.28(a)1
      14 (26.84 cM)5
    677721  NM_201637.21  NP_963999.21 
     521981515 
    lizard
    (Anolis carolinensis)
    Reptilia CHD86
    chromodomain helicase DNA binding protein 8
    77(a)
    1 ↔ 1
    GL343466.1(403687-447705)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.329122 Xenopus laevis transcribed sequence with weak similarity more 75.13(n)    BJ643955.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chd81 chromodomain helicase DNA binding protein 8 63.75(n)
    66.78(a)
      568214  NM_001202452.1  NP_001189381.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kis6
    kismet
    17(a)
    1 → many
    2L(210735-250823)
    worm
    (Caenorhabditis elegans)
    Secernentea chd-76
    Protein CHD-7 (chd-7) mRNA, complete cds
    25(a)
    1 → many
    I(4685868-4698575) WBGene00007053


    ENSEMBL Gene Tree for CHD8 (if available)
    TreeFam Gene Tree for CHD8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHD8 gene
    CHD62  CHD52  CHD92  CHD42  CHD12  CHD72  CHD32  CHD22  
    11 SIMAP similar genes for CHD8 using alignment to 6 protein entries:     CHD8_HUMAN (see all proteins):
    CHD9    CHD6    CHD7    CHD5    SMARCA5    DKFZp434K213
    DKFZp434P202    SMARCA1    CHD1L    CHD4    HELLS

    Find genes that share paralogs with CHD8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHD8 (see all 1135)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401035241,2
    --2015275(+) GCAAGC/GAGTAC 2 -- int10--------
    rs128855731,2
    C--2015440(+) CTTGCC/ACGTCC 2 -- int11Minor allele frequency- A:0.50NA 2
    rs1115271911,2
    C--2015450(+) CCATCC/ACAATA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs128855791,2
    C--2015453(+) TCACAG/ATAGCA 2 -- int12Minor allele frequency- A:0.25WA NA 4
    rs2021072901,2
    --2015454(+) CACAA-/TAGCAA 2 -- int10--------
    rs1500221701,2
    C--2015469(+) CACTC-/ACTT  
            
    GAGCT
    2 -- int10--------
    rs1411859301,2
    --2015543(+) TGTTTA/TGGAGG 2 -- int10--------
    rs1121473631,2
    C,F--2015578(+) AATGTC/ACCATC 2 -- int13Minor allele frequency- A:0.50NA WA 6
    rs1138185891,2
    C,F--2015638(+) AGTAGC/TAAGGA 2 -- int13Minor allele frequency- T:0.50NA WA 6
    rs1128848241,2
    C,F--2015645(+) AGGAGC/TACTCA 2 -- int13Minor allele frequency- T:0.50NA WA 6

    HapMap Linkage Disequilibrium report for CHD8 (21853353 - 21924285 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CHD8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1687094CNV Deletion17803354
    esv2748458CNV Deletion23290073
    esv1010334CNV Deletion20482838
    esv2748456CNV Deletion23290073
    esv2748457CNV Deletion23290073
    nsv483070CNV Gain15286789

    Human Gene Mutation Database (HGMD): CHD8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHD8
    DNA2.0 Custom Variant and Variant Library Synthesis for CHD8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610528   
    OMIM disorders: 615032  
    UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8
  • Autism 18 (AUTS18) [MIM:615032]: A complex multifactorial, pervasive developmental disorder characterized
    by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of
    interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals
    with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry

  • 2 diseases for CHD8:    
    About MalaCards
    autism 18    charge syndrome


    Find genes that share disorders with CHD8           About GenesLikeMe


    Export disorders for CHD8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHD8 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with CHD8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription. (PubMed id 17938208)1, 2, 9 Yuan C.-C....Hernandez N. (Mol. Cell. Biol. 2007)
    3. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. (PubMed id 20453063)1, 2 Batsukh T.... Pauli S. (Hum. Mol. Genet. 2010)
    4. CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. (PubMed id 18378692)1, 2 Thompson B.A.... Bochar D.A. (Mol. Cell. Biol. 2008)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. CTCF-dependent chromatin insulator is linked to epigenetic remodeling. (PubMed id 16949368)1, 2 Ishihara K.... Nakao M. (Mol. Cell 2006)
    8. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PubMed id 15960975)1, 2 Dou Y.... Roeder R.G. (Cell 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57680 HGNC: 20153 AceView: CHD8 Ensembl:ENSG00000100888 euGenes: HUgn57680
    ECgene: CHD8 Kegg: 57680 H-InvDB: CHD8

    (According to HUGE)
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    HUGE: KIAA1564

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CHD8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHD8 gene:
    Search GeneIP for patents involving CHD8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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