Gene Detail

Gene Symbol KMT2A
Synonyms ALL-1 | CXXC7 | HRX | 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).
Entrez Id 4297
Chromosome 11
Map Location 11q23.3
Canonical Transcript NM_005933

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E1984K missense unknown KMT2A E1984K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E1984K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
K2276T missense unknown KMT2A K2276T does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K2276T has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
D3921Y missense unknown KMT2A D3921Y lies within the SET domain of the Kmt2a protein (UniProt.org). D3921Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R2619C missense unknown KMT2A R2619C does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2619C has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
S1062Y missense unknown KMT2A S1062Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1062Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
S534L missense unknown KMT2A S534L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S534L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
KMT2A - ELL fusion gain of function KMT2A-ELL results from the fusion of KMT2A (MLL) and ELL, resulting in the transformation of primary myeloid progenitor cells, which eventually leads to acute myeloid leukemia in mouse models (PMID: 10995463).
S1643Y missense unknown KMT2A S1643Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1643Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
S3865F missense loss of function - predicted KMT2A S3865F lies within the SET domain of the Kmt2a protein (UniProt.org). S3865F is predicted to confer a loss of function to the Ktm2a protein, as demonstrated by decreased Kmt2a histone methyltransferase alone or in complex with WRA complex in in-vitro assays (PMID: 28182322).
D2295N missense unknown KMT2A D2295N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). D2295N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R2093M missense unknown KMT2A R2093M does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2093M has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R407* nonsense loss of function - predicted KMT2A R407* results in a premature truncation of the Kmt2a protein at amino acid 407 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R407* is predicted to lead to a loss of Kmt2a protein function.
K1103N missense unknown KMT2A K1103N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K1103N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
A2571V missense unknown KMT2A A2571V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). A2571V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
K254Q missense unknown KMT2A K254Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K254Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
F1458S missense unknown KMT2A F1458S lies within the PHD-type zinc finger domain 1 of the Kmt2a protein (UniProt.org). F1458S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R3965W missense unknown KMT2A R3965W lies within the Post-SET domain of the Kmt2a protein (UniProt.org). R3965W has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
V2178A missense unknown KMT2A V2178A does not lie within any known functional domains of the Kmt2a protein (UniProt.org). V2178A has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
amp none no effect KMT2A amplification indicates an increased number of copies of the KMT2A gene. However, the mechanism causing the increase is unspecified.
R3932H missense unknown KMT2A R3932H lies within the SET domain of the Kmt2a protein (UniProt.org). R3932H has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
KMT2A - MLLT10 fusion gain of function KMT2A-MLLT10 results from the fusion of KMT2A (MLL) and MLLT10 (AF10), resulting in the transformation of primitive myeloid progenitor cells in mouse models, which eventually leads to leukemogenesis (PMID: 11986236).
KMT2A - AFF1 fusion gain of function KMT2A-AFF1 (also referred to as MLL-AF4) results in the fusion of KMT2A and AFF1, resulting in repression of CDKN1B transcription, which eventually leads to leukemogenesis (PMID: 20194896, PMID: 16169901).
S3576F missense unknown KMT2A S3576F does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3576F has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
E1472* nonsense loss of function - predicted KMT2A E1472* results in a premature truncation of the Kmt2a protein at amino acid 1472 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1472* is predicted to lead to a loss of Kmt2a protein function.
D2384E missense unknown KMT2A D2384E does not lie within any known functional domains of the Kmt2a protein (UniProt.org). D2384E has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
KMT2A - EP300 fusion unknown KMT2A-EP300 results from the fusion of KMT2A and EP300 (PMID: 20980053). KMT2A-EP300 has been identified in acute myeloid leukemia (PMID: 20980053), but not been biochemically characterized and therefore, its effect on protein function is unknown (PubMed, Jan 2018).
R427W missense unknown KMT2A R427W does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R427W has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
KMT2A - MLLT3 fusion gain of function KMT2A-MLLT3 (also referred to as MLL-AF9) results from the fusion of KMT2A and MLLT3, resulting in a gain of function protein that induces cell proliferation and drives tumorigenesis in culture (PMID: 11607819).
F1481L missense unknown KMT2A F1481L lies within the PHD-type zinc finger domain 1 of the Kmt2a protein (UniProt.org). F1481L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R652* nonsense loss of function - predicted KMT2A R652* results in a premature truncation of the Kmt2a protein at amino acid 652 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R652* is predicted to lead to a loss of Kmt2a protein function.
D3876N missense unknown KMT2A D3876N lies within the SET domain of the Kmt2a protein (UniProt.org). D3876N has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
G2349S missense unknown KMT2A G2349S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G2349S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2018).
G606E missense unknown KMT2A G606E does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G606E has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
rearrange unknown unknown KMT2A rearrangement indicates an unspecified rearrangement of the KMT2A gene.
R3886* nonsense unknown KMT2A R3886* results in a premature truncation of the Kmt2a protein at amino acid 3886 of 3969 (UniProt.org). R3886* has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
R2656* nonsense loss of function - predicted KMT2A R2656* results in a premature truncation of the Kmt2a protein at amino acid 2656 of 3969 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R2656* is predicted to lead to a loss of Kmt2a protein function.
S2771Y missense unknown KMT2A S2771Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S2771Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
K1256Q missense unknown KMT2A K1256Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K1256Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R3656W missense unknown KMT2A R3656W does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R3656W has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
Y3883S missense unknown KMT2A Y3883S lies within the SET domain of the Kmt2a protein (UniProt.org). Y3883S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
E2986K missense unknown KMT2A E2986K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E2986K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
P3407L missense unknown KMT2A P3407L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P3407L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R3903H missense loss of function - predicted KMT2A R3903H lies within the SET domain of the Kmt2a protein (UniProt.org). R3903H is predicted to confer a loss of function to the Kmt2a protein function, as demonstrated by loss of histone methyltransferase activity in in-vitro assays (PMID: 28182322).
N3084S missense unknown KMT2A N3084S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). N3084S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R1064* nonsense loss of function - predicted KMT2A R1064* results in a premature truncation of the Kmt2a protein at amino acid 1064 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R1064* is predicted to lead to a loss of Kmt2a protein function.
P3095Q missense unknown KMT2A P3095Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P3095Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
fusion fusion unknown KMT2A fusion indicates a fusion of the KMT2A gene, but the fusion partner is unknown.
G3376D missense unknown KMT2A G3376D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G3376D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
E1060D missense unknown KMT2A E1060D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E1060D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R3741Q missense unknown KMT2A R3741Q lies within the FYR C-terminal domain of the Kmt2a protein (UniProt.org). R3741Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
S1152L missense unknown KMT2A S1152L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1152L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
R1532C missense unknown KMT2A R1532C lies within the PHD-type zinc finger domain 2 of the Kmt2a protein (UniProt.org). R1532C has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
G3842S missense unknown KMT2A G3842S lies within the SET domain of the Kmt2a protein (UniProt.org). G3842S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
K1457N missense unknown KMT2A K1457N lies within the PHD-type zinc finger domain 1 of the Kmt2a protein (UniProt.org). K1457N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
P2846H missense unknown KMT2A P2846H does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2846H has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
E3938K missense unknown KMT2A E3938K lies within the SET domain of the Kmt2a protein (UniProt.org). E3938K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
E2416K missense unknown KMT2A E2416K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E2416K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
V2246G missense unknown KMT2A V2246G does not lie within any known functional domains of the Kmt2a protein (UniProt.org). V2246G has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
KMT2A - SEPT6 fusion gain of function KMT2A-SEPT6 results from the fusion of KMT2A (MLL) and ELLSEPT6, resulting in the transformation of myeloid cells in culture and leukemogenesis in mouse models (PMID: 16314519).
P2928L missense unknown KMT2A P2928L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2928L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R933Q missense unknown KMT2A R933Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R933Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
S2690Y missense unknown KMT2A S2690Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S2690Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
R1976Q missense unknown KMT2A R1976Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R1976Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
K246N missense unknown KMT2A K246N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K246N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
KMT2A - GAS7 fusion gain of function KMT2A-GAS7 results in the fusion of KMT2A to GAS7, and leads to activation of downstream targets and transformation of cells in culture, and induces leukemia in mouse models (PMID: 26766589, PMID: 12620410).
E3448K missense unknown KMT2A E3448K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E3448K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
P2946S missense unknown KMT2A P2946S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2946S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
L3153V missense unknown KMT2A L3153V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). L3153V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R736M missense unknown KMT2A R736M does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R736M has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
A3737V missense unknown KMT2A A3737V lies within the FYR C-terminal domain of the Kmt2a protein (UniProt.org). A3737V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
KMT2A - MLLT1 fusion gain of function KMT2A-MLLT1 (also referred to as MLL-ENL) results from the fusion of KMT2A and MLLT1, resulting in transformation in culture and leukemogenesis in mouse models (PMID: 9250666).
S2785Y missense unknown KMT2A S2785Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S2785Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
K1321T missense unknown KMT2A K1321T does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K1321T has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
P2148S missense unknown KMT2A P2148S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2148S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
G3899V missense unknown KMT2A G3899V lies within the SET domain of the Kmt2a protein (UniProt.org). G3899V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R2160Q missense unknown KMT2A R2160Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2160Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
D505N missense unknown KMT2A D505N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). D505N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R1151* nonsense loss of function - predicted KMT2A R1151* results in a premature truncation of the Kmt2a protein at amino acid 1151 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R1151* is predicted to lead to a loss of Kmt2a protein function.
M2213V missense unknown KMT2A M2213V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). M2213V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R2379* nonsense loss of function - predicted KMT2A R2379* results in a premature truncation of the Kmt2a protein at amino acid 2379 of 3969 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R2379* is predicted to lead to a loss of Kmt2a protein function.
E1361* nonsense loss of function - predicted KMT2A E1361* results in a premature truncation of the Kmt2a protein at amino acid 1361 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1361* is predicted to lead to a loss of Kmt2a protein function.
H3907D missense unknown KMT2A H3907D lies within the SET domain of the Kmt2a protein (UniProt.org). H3907D has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
S3377L missense unknown KMT2A S3377L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3377L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
R3864C missense unknown KMT2A R3864C lies within the SET domain of the Kmt2a protein (UniProt.org). The functional effect of R3864C is conflicting as it demonstrates increased histone methyltransferase activity in the absence but decreased activity in the presence of WRA complex stimulation compared to wild type Kmt2a in in vitro assays (PMID: 28182322).
R3903C missense unknown KMT2A R3903C lies within the SET domain of the Kmt2a protein (UniProt.org). R3903C has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
T3868N missense unknown KMT2A T3868N lies within the SET domain of the Kmt2a protein (UniProt.org). T3868N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
C1173R missense unknown KMT2A C1173R does not lie within any known functional domains of the Kmt2a protein (UniProt.org). C1173R has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
S3120L missense unknown KMT2A S3120L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3120L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2018).
G2610D missense unknown KMT2A G2610D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G2610D has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2018).
R3841W missense unknown KMT2A R3841W lies within the SET domain of the Kmt2a protein (UniProt.org). The functional effect of R3841W is conflicting as it demonstrates increased histone methyltransferase activity in the absence but decreased activity in the presence of WRA complex stimulation compared to wild type Kmt2a in in vitro assays (PMID: 28182322).
Molecular Profile Protein Effect Treatment Approaches
KMT2A E1984K unknown
KMT2A K2276T unknown
KMT2A D3921Y unknown
KMT2A R2619C unknown
KMT2A S1062Y unknown
KMT2A S534L unknown
KMT2A-ELL gain of function
KMT2A S1643Y unknown
KMT2A S3865F loss of function - predicted
KMT2A D2295N unknown
KMT2A R2093M unknown
KMT2A R407* loss of function - predicted
KMT2A K1103N unknown
KMT2A A2571V unknown
KMT2A K254Q unknown
KMT2A F1458S unknown
KMT2A R3965W unknown
KMT2A V2178A unknown
KMT2A amp no effect
KMT2A R3932H unknown
KMT2A-MLLT10 gain of function DOT1L Inhibitor
KMT2A-AFF1 gain of function
KMT2A S3576F unknown
KMT2A E1472* loss of function - predicted
KMT2A D2384E unknown
KMT2A - EP300 unknown
KMT2A R427W unknown
KMT2A-MLLT3 gain of function
KMT2A-MLLT3 SRSF2 P95H
KMT2A F1481L unknown
KMT2A R652* loss of function - predicted
KMT2A D3876N unknown
KMT2A G2349S unknown
KMT2A G606E unknown
KMT2A rearrange unknown
KMT2A R3886* unknown
KMT2A R2656* loss of function - predicted
KMT2A S2771Y unknown
KMT2A K1256Q unknown
KMT2A R3656W unknown
KMT2A Y3883S unknown
KMT2A E2986K unknown
KMT2A P3407L unknown
KMT2A R3903H loss of function - predicted
KMT2A N3084S unknown
KMT2A R1064* loss of function - predicted
KMT2A P3095Q unknown
KMT2A fusion unknown
KMT2A G3376D unknown
KMT2A E1060D unknown
KMT2A R3741Q unknown
KMT2A S1152L unknown
KMT2A R1532C unknown
KMT2A G3842S unknown
KMT2A K1457N unknown
KMT2A P2846H unknown
KMT2A E3938K unknown
KMT2A E2416K unknown
KMT2A V2246G unknown
KMT2A-SEPT6 gain of function
KMT2A P2928L unknown
KMT2A R933Q unknown
KMT2A S2690Y unknown
KMT2A R1976Q unknown
KMT2A K246N unknown
KMT2A-GAS7 gain of function
KMT2A E3448K unknown
KMT2A P2946S unknown
KMT2A L3153V unknown
KMT2A R736M unknown
KMT2A A3737V unknown
KMT2A-MLLT1 NRAS G12D
KMT2A-MLLT1 gain of function
KMT2A S2785Y unknown
KMT2A K1321T unknown
KMT2A P2148S unknown
KMT2A G3899V unknown
KMT2A R2160Q unknown
KMT2A D505N unknown
KMT2A R1151* loss of function - predicted
KMT2A M2213V unknown
KMT2A R2379* loss of function - predicted
KMT2A E1361* loss of function - predicted
KMT2A H3907D unknown
KMT2A S3377L unknown
KMT2A R3864C unknown
KMT2A R3903C unknown
KMT2A T3868N unknown
KMT2A C1173R unknown
KMT2A S3120L unknown
KMT2A G2610D unknown
KMT2A R3841W unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KMT2A-ELL acute myeloid leukemia sensitive I-BET151 + SGC0946 Preclinical - Patient cell culture Actionable In a preclinical study, I-BET151 and SGC0946 synergistically inhibited proliferation of patient-derived acute myeloid leukemia cells harboring KMT2A-ELL in culture (PMID: 27294782). 27294782
KMT2A-MLLT10 leukemia sensitive EPZ004777 Preclinical Actionable In a preclinical study, transformed cells expressing the fusion, KMT2A-MLLT10, demonstrated sensitivity to EPZ004777 in culture and in mouse models, resulting in cell cycle arrest, increased apoptotic activity, and inhibition of cell proliferation (PMID: 23138183). 23138183
KMT2A-MLLT10 acute myeloid leukemia sensitive I-BET151 + SGC0946 Preclinical - Patient cell culture Actionable In a preclinical study, I-BET151 and SGC0946 synergistically inhibited proliferation of patient-derived acute myeloid leukemia cells harboring KMT2A-MLLT10 in culture (PMID: 27294782). 27294782
KMT2A-AFF1 acute myeloid leukemia sensitive Dinaciclib Preclinical Actionable In a preclinical study, treatment with Dinaciclib resulted in induced cell death of acute myeloid leukemia cells harboring KMT2A-AFF1 in culture (PMID: 26627013). 26627013
KMT2A-AFF1 acute lymphocytic leukemia predicted - sensitive AZD5153 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD5153 inhibited proliferation of acute lymphocytic leukemia cells harboring KMT2A-AFF1 (MLL-AF4) in culture, resulted in tumor growth inhibition in cell line xenograft models (PMID: 27573426). 27573426
KMT2A-AFF1 acute myeloid leukemia predicted - sensitive AZD5153 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD5153 inhibited proliferation of acute myeloid leukemia cells harboring KMT2A-AFF1 (MLL-AF4) in culture, resulted in tumor growth inhibition in cell line xenograft models (PMID: 27573426). 27573426
KMT2A-AFF1 leukemia sensitive IRAK1/4 Preclinical - Cell culture Actionable In a preclinical study, leukemia cells harboring KMT2A-AFF1 demonstrated sensitivity to IRAK1/4 in culture, resulting in decreased cell proliferation (PMID: 28065413). 28065413
KMT2A-AFF1 acute myeloid leukemia sensitive MI-503 Preclinical - Cell line xenograft Actionable In a preclinical study, MI-503 reduced expression of KMT2A (MLL) fusion target genes, inhibited growth of an acute myeloid leukemia (AML) cell lines harboring KMT2A-AFF1 (MLL-AF4) in culture, and inhibited tumor growth and progression in an AML cell line xenograft model harboring KMT2A-AFF1 (MLL-AF4) (PMID: 25817203). 25817203
KMT2A-AFF1 leukemia sensitive I-BET151 + SGC0946 Preclinical - Cell culture Actionable In a preclinical study, I-BET151 and SGC0946 synergistically inhibited proliferation of leukemia cells harboring KMT2A-AFF1 in culture (PMID: 27294782). 27294782
KMT2A - EP300 acute myeloid leukemia sensitive MI-503 Preclinical - Patient cell culture Actionable In a preclinical study, MI-503 inhibited growth of a primary acute myeloid sample harboring KMT2A-EP300 in culture (PMID: 25817203). 25817203
KMT2A-MLLT3 leukemia sensitive IRAK1/4 Preclinical Actionable In a preclinical study, a transgenic leukemic mouse model harboring KMT2A-MLLT3 demonstrated sensitivity to IRAK1/4, resulting in delayed progression and improved survival (PMID: 28065413). 28065413
KMT2A-MLLT3 leukemia sensitive MI-503 Preclinical Actionable In a preclinical study, MI-503 reduced progression and improved survival of a mouse leukemia model expressing KMT2A-MLLT3 (MLL-AF9) (PMID: 25817203). 25817203
KMT2A-MLLT3 acute myeloid leukemia sensitive I-BET151 + SGC0946 Preclinical - Patient cell culture Actionable In a preclinical study, I-BET151 and SGC0946 synergistically inhibited proliferation of patient-derived acute myeloid leukemia cells harboring KMT2A-MLLT3 in culture, and prolonged survival in animal models of mouse KMT2A-MLLT3-positive leukemia (PMID: 27294782). 27294782
KMT2A-MLLT3 acute myeloid leukemia sensitive MI-503 Preclinical - Patient cell culture Actionable In a preclinical study, MI-503 inhibited growth of an acute myeloid leukemia (AML) cell line and primary AML samples harboring KMT2A-MLLT3 (MLL-AF9) in culture (PMID: 25817203). 25817203
KMT2A-MLLT3 acute myeloid leukemia sensitive Dinaciclib Preclinical Actionable In a preclinical study, treatment with Dinaciclib resulted in induced cell death of acute myeloid leukemia cells harboring KMT2A-MLLT3 in culture (PMID: 26627013). 26627013
KMT2A-MLLT3 SRSF2 P95H acute myeloid leukemia sensitive H3B-8800 Preclinical Actionable In a preclinical study, H3B-8800 inhibited tumor growth in transplant animal models of mouse acute myeloid leukemia cells harboring SRSF2 P95H and KMT2A-MLLT3 (MLL-AF9) while had no effect in SRSF2 wild-type controls (Blood 2016 128:966). detail...
KMT2A rearrange acute lymphocytic leukemia sensitive Cytarabine + Mocetinostat Preclinical - Cell culture Actionable In a preclinical study, Mocetinostat (MGCD0103) enhanced the effects of Cytosar-U (cytarabine) in acute lymphoblastic leukemia cell lines harboring a KMT2A rearrangement in culture, resulting in cell death (PMID: 27443263). 27443263
KMT2A rearrange acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, KMT2A rearrangements, specifically partial tandem duplications, were associated with a poor overall survival in acute myeloid leukemia patients (PMID: 24487413, PMID: 22915647, PMID: 22417203, PMID: 21881046). 21881046 24487413 22417203 22915647
KMT2A rearrange leukemia predicted - sensitive I-CBP112 + Doxorubicin Preclinical Actionable In a preclinical study, I-CBP112 sensitized leukemia cells harboring KMT2A fusions to Doxorubicin, leading to decreased cell growth in culture (PMID: 26552700). 26552700
KMT2A rearrange acute lymphocytic leukemia sensitive Cytarabine + Dacinostat Preclinical - Cell culture Actionable In a preclinical study, Dacinostat (LAQ824) enhanced the effects of Cytosar-U (cytarabine) in acute lymphoblastic leukemia cell lines harboring a KMT2A rearrangement in culture, resulting in cell death (PMID: 27443263). 27443263
KMT2A rearrange acute lymphocytic leukemia sensitive Cytarabine + Panobinostat Preclinical - Cell culture Actionable In a preclinical study, Farydak (panobinostat) enhanced the effects of Cytosar-U (cytarabine) in acute lymphoblastic leukemia cells harboring a KMT2A rearrangement in culture, resulting in cell death (PMID: 27443263). 27443263
KMT2A rearrange acute lymphocytic leukemia sensitive Cytarabine Preclinical - Cell line xenograft Actionable In a preclinical study, Cytosar-U (cytarabine) decreased leukemic cells by 66% in acute lymphocytic leukemia cell line xenograft models harboring a KMT2A rearrangement (PMID: 27443263). 27443263
KMT2A rearrange leukemia predicted - sensitive I-CBP112 + JQ1 Preclinical Actionable In a preclinical study, I-CBP112 sensitized leukemia cells harboring KMT2A fusions to JQ1, resulting in decreased cell growth in culture (PMID: 26552700). 26552700
KMT2A rearrange acute lymphocytic leukemia decreased response romidepsin Preclinical - Cell line xenograft Actionable In a preclinical study, Istodax (romidepsin) resulted in minimal activity in acute lymphocytic leukemia cell lines harboring a KMT2A rearrangement in culture, and in cell line xenograft models, demonstrating decreased leukemic cells by 16% (PMID: 27443263). 27443263
KMT2A rearrange acute lymphocytic leukemia sensitive Cytarabine + Romidepsin Preclinical - Cell line xenograft Actionable In a preclinical study, Istodax (romidepsin) enhanced the effects of Cytosar-U (cytarabine) in acute lymphocytic leukemia cell lines harboring a KMT2A rearrangement in culture, and in cell line xenograft models, demonstrating decreased leukemic cells by 73% (PMID: 27443263). 27443263
KMT2A fusion acute myeloid leukemia predicted - sensitive MI-503 Preclinical - Cell culture Actionable In a preclinical study, MI-503 inhibited growth of several acute myeloid leukemia (AML) cell lines and primary AML samples harboring KMT2A (MLL) fusions in culture (PMID: 25817203). 25817203
KMT2A fusion acute myeloid leukemia sensitive I-BET151 + SGC0946 Preclinical - Patient cell culture Actionable In a preclinical study, I-BET151 and SGC0946 synergistically inhibited proliferation of patient-derived acute myeloid leukemia cells harboring KMT2A fusions in culture (PMID: 27294782). 27294782
KMT2A-SEPT6 acute myeloid leukemia sensitive I-BET151 + SGC0946 Preclinical - Patient cell culture Actionable In a preclinical study, I-BET151 and SGC0946 synergistically inhibited proliferation of patient-derived acute myeloid leukemia cells harboring KMT2A-SEPT6 in culture (PMID: 27294782). 27294782
KMT2A-GAS7 leukemia sensitive AMI-408 Preclinical - Cell line xenograft Actionable In a preclinical study, treatment with AMI-408 decreased growth of leukemia cells expressing KMT2A-GAS7 (MLL-GAS7) in culture, and increased survival in xenograft models (PMID: 26766589). 26766589
KMT2A-MLLT1 NRAS G12D acute myeloid leukemia predicted - sensitive AZ20 Preclinical Actionable In a preclinical study, AZ20 treatment resulted in growth inhibition of tumor cells and prolonged survival in animal models of acute myeloid leukemia harboring KMT2A-MLLT1 fusion and NRAS G12D (PMID: 27625305). 27625305
KMT2A-MLLT1 NRAS G12D acute myeloid leukemia sensitive Dinaciclib Preclinical Actionable In a preclinical study, acute myeloid leukemia cells co-harboring KMT2A-MLLT1 and NRAS G12D demonstrated a decrease in tumor burden, reduced colony formation, and an increase in cell death when treated with Dinaciclib in both culture and mouse models (PMID: 26627013). 26627013
KMT2A-MLLT1 NRAS G12D acute myeloid leukemia predicted - sensitive AZD0156 Preclinical Actionable In a preclinical study, AZD0156 treatment resulted in growth inhibition of tumor cells and prolonged survival in animal models of acute myeloid leukemia harboring KMT2A-MLLT1 fusion and NRAS G12D (PMID: 27625305). 27625305
KMT2A-MLLT1 acute myeloid leukemia sensitive MI-503 Preclinical - Cell culture Actionable In a preclinical study, MI-503 inhibited growth of an acute myeloid leukemia cell line harboring KMT2A-MLLT1 (MLL-ENL) in culture (PMID: 25817203). 25817203