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BFSP1  
    


    
      Official symbol:  BFSP1
      Full name:  beaded filament structural protein 1
      Location:  20p12.1
      Also known as:  filensin, CP94, LIFL-H, CP115
      Entrez ID:  631
      Ensembl ID:  ENSG00000125864
      Summary:  This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

    

    
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  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.00  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
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  Tissue specific
    
 
Total fusion occurrence:  0  
 
 
 

    
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  Tissue specific
    
     
   

    
      Functional class:  Not specified
      JensenLab PubMed score:  128.66  (Percentile rank: 76.09%)
      PubTator score:  45.33  (Percentile rank: 66.25%)
      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 - Medium to low confidenceTargets with GO cell component terms plasma membrane or secreted with low or unknown confidence; Targets with predicted signal peptide and transmembrane domains; GO cell component - medium confidence; Human Protein Atlas - high confidence

    







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