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Gene Symbol KMT2A
Synonyms ALL-1 | ALL1 | CXXC7 | GAS7 | HRX | HTRX | HTRX1 | MLL | MLL1 | MLL1A | TRX1 | WDSTS
Gene Description KMT2A, lysine methyltransferase 2A, also referred to as MLL, is a transcriptional coactivator that epigenetically regulates gene transcription via methylation and is primarily associated with hematopoietic and embyronic development (PMID: 26161385). KMT2A translocations are frequently observed in specific leukemias including acute myeloid, acute lymphoblastic, and mixed lineage (PMID: 17957188, PMID: 32243611).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
4297 11 11q23.3 NM_005933 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function KMT2A act mut indicates that this variant results in a gain of function in the Kmt2a protein. However, the specific amino acid change has not been identified.
fusion fusion unknown KMT2A fusion indicates a fusion of the KMT2A gene, but the fusion partner is unknown.
inact mut unknown loss of function KMT2A inact mut indicates that this variant results in a loss of function of the Kmt2a protein. However, the specific amino acid change has not been identified.
mutant unknown unknown KMT2A mutant indicates an unspecified mutation in the KMT2A gene.
rearrange unknown unknown KMT2A rearrangement indicates an unspecified rearrangement of the KMT2A gene.
T1061fs frameshift loss of function - predicted KMT2A T1061fs results in a change in the amino acid sequence of the Kmt2a protein beginning at aa 1061 of 3969, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), T1061fs is predicted to lead to a loss of Kmt2a protein function.