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KMT2A  
    


    
      Official symbol:  KMT2A
      Full name:  lysine methyltransferase 2A
      Location:  11q23.3
      Also known as:  TRX1, HTRX1, MLL1A, CXXC7, HRX, MLL, ALL-1
      Entrez ID:  4297
      Ensembl ID:  ENSG00000118058
      Summary:  This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.81  (Driver)
 
Recurrently deleted in 4 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.29  (Driver)
 
Recurrently mutated in 2 cancer type(s)
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  17  (Driver)
 
Fusions detected in 7 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Epigenetic
      JensenLab PubMed score:  735.95  (Percentile rank: 93.53%)
      PubTator score:  1333.41  (Percentile rank: 97.39%)
      Target development/druggability level:  TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
      Tractability (small molecule):  Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
      Tractability (antibody):  

    







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