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COL7A1  
    


    
      Official symbol:  COL7A1
      Full name:  collagen type VII alpha 1 chain
      Location:  3p21.31
      Also known as:  EBDCT, EBD1, EBR1
      Entrez ID:  1294
      Ensembl ID:  ENSG00000114270
      Summary:  This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.51  
 
Recurrently deleted in 3 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  3  
 
Fusions detected in 3 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Not specified
      JensenLab PubMed score:  371.72  (Percentile rank: 88.34%)
      PubTator score:  379.69  (Percentile rank: 91.49%)
      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):  Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted

    







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