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CHD8  
    


    
      Official symbol:  CHD8
      Full name:  chromodomain helicase DNA binding protein 8
      Location:  14q11.2
      Also known as:  HELSNF1, DUPLIN, KIAA1564
      Entrez ID:  57680
      Ensembl ID:  ENSG00000100888
      Summary:  This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.29  
Gscore (Del):  0.00  
 
Recurrently amplified in 1 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.14  (Driver)
 
Recurrently mutated in 2 cancer type(s)
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  8  
 
Fusions detected in 6 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Epigenetic
      JensenLab PubMed score:  47.39  (Percentile rank: 61.48%)
      PubTator score:  35.45  (Percentile rank: 62.29%)
      Target development/druggability level:  TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
      Tractability (small molecule):  N/A
      Tractability (antibody):  

    







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