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PMS1  
    


    
      Official symbol:  PMS1
      Full name:  PMS1 homolog 1, mismatch repair system component
      Location:  2q32.2
      Also known as:  MLH2, PMSL1
      Entrez ID:  5378
      Ensembl ID:  ENSG00000064933
      Summary:  This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.12  
Gscore (Del):  0.00  
 
Recurrently amplified in 1 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:  Transcription factor
      JensenLab PubMed score:  401.64  (Percentile rank: 89.08%)
      PubTator score:  81.99  (Percentile rank: 75.03%)
      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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