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Gene Symbol DOT1L
Synonyms DOT1 | KMT4
Gene Description DOT1L, DOT1 like histone lysine methyltransferase, mediates histone H3 methylation at lysine 79 and is associated with active gene transcription, DNA damage response, and DNA repair (PMID: 30616689). DOT1L is associated with pathogenesis of mixed lineage leukemia (MLL)-rearranged leukemia (PMID: 24854991) and DOT1L amplification and/or overexpression has been reported in pancreatic adenocarcinoma (PMID: 28529740), gastric cancer (PMID: 31939604), and triple negative breast cancer (PMID: 31720371).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1142D missense unknown DOT1L A1142D does not lie within any known functional domains of the Dot1l protein (UniProt.org). A1142D has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
A1430V missense unknown DOT1L A1430V does not lie within any known functional domains of the Dot1l protein (UniProt.org). A1430V has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
A1504T missense unknown DOT1L A1504T does not lie within any known functional domains of the Dot1l protein (UniProt.org). A1504T has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
A195T missense unknown DOT1L A195T lies within the DOT1 domain of the Dot1l protein (UniProt.org). A195T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Sep 2020).
A195V missense unknown DOT1L A195V lies within the DOT1 domain of the Dot1l protein (UniProt.org). A195V has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Sep 2020).
A529P missense unknown DOT1L A529P does not lie within any known functional domains of the Dot1l protein (UniProt.org). A529P has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
A935S missense unknown DOT1L A935S does not lie within any known functional domains of the Dot1l protein (UniProt.org). A935S has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
amp none no effect DOT1L amplification indicates an increased number of copies of the DOT1L gene. However, the mechanism causing the increase is unspecified.
D1250G missense unknown DOT1L D1250G does not lie within any known functional domains of the Dot1l protein (UniProt.org). D1250G has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
D1250N missense unknown DOT1L D1250N does not lie within any known functional domains of the Dot1l protein (UniProt.org). D1250N has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
D1258N missense unknown DOT1L D1258N does not lie within any known functional domains of the Dot1l protein (UniProt.org). D1258N has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
D1333N missense unknown DOT1L D1333N does not lie within any known functional domains of the Dot1l protein (UniProt.org). D1333N has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
E1192K missense unknown DOT1L E1192K does not lie within any known functional domains of the Dot1l protein (UniProt.org). D1192K has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
E379K missense unknown DOT1L E379K does not lie within any known functional domains of the Dot1l protein (UniProt.org). E379K has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
E46G missense unknown DOT1L E46G lies within the DOT1 domain of the Dot1l protein (UniProt.org). E46G has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
E710K missense unknown DOT1L E710K does not lie within any known functional domains of the Dot1l protein (UniProt.org). E710K has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
F257L missense unknown DOT1L F257L lies within the DOT1 domain of the Dot1l protein (UniProt.org). F257L has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
G1309D missense unknown DOT1L G1309D does not lie within any known functional domains of the Dot1l protein (UniProt.org). G1309D has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
G137R missense unknown DOT1L G137R lies within the DOT1 domain of the Dot1l protein (UniProt.org). G137R has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
G1386S missense unknown DOT1L G1386S does not lie within any known functional domains of the Dot1l protein (UniProt.org). G1386S has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
G1392S missense unknown DOT1L G1392S does not lie within any known functional domains of the Dot1l protein (UniProt.org). G1392S has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
G1443C missense unknown DOT1L G1443C does not lie within any known functional domains of the Dot1l protein (UniProt.org). G1443C has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Sep 2020).
G165C missense unknown DOT1L G165C lies within the DOT1 domain of the Dot1l protein (UniProt.org). G165C has not been characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Jul 2020).
G246S missense unknown DOT1L G246S lies within the DOT1 domain of the Dot1l protein (UniProt.org). G246S has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
G412R missense unknown DOT1L G412R lies within the region of the Dot1l protein required for interaction with nucleosomes and DNA (Uniprot.org). G412R has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Sep 2020).
G821A missense unknown DOT1L G821A does not lie within any known functional domains of the Dot1l protein (UniProt.org). G821A has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
G91C missense unknown DOT1L G91C lies within the DOT1 domain of the Dot1l protein (UniProt.org). G91C has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
H457D missense unknown DOT1L H457D does not lie within any known functional domains of the Dot1l protein (UniProt.org). H457D has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
K1203N missense unknown DOT1L K1203N does not lie within any known functional domains of the Dot1l protein (UniProt.org). K1203N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
K550Q missense unknown DOT1L K550Q does not lie within any known functional domains of the Dotl1 protein (UniProt.org). K550Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
L1379M missense unknown DOT1L L1379M does not lie within any known functional domains of the Dot1l protein (UniProt.org). L1379M has been identified in sequencing studies (PMID: 26438511, PMID: 28967920, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
L322R missense unknown DOT1L L322R lies within the DOT1 domain of the Dot1l protein (UniProt.org). L322R has been identified in sequencing studies (PMID: 23103869), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
M206I missense unknown DOT1L M206I lies within the DOT1 domain of the Dot1l protein (UniProt.org). M206I has been identified in sequencing studies (PMID: 30674894), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
mutant unknown unknown DOT1L mutant indicates an unspecified mutation in the DOT1L gene.
N522S missense unknown DOT1L N522S does not lie within any known function domains of the Dot1l protein (UniProt.org). N522S has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
over exp none no effect DOT1L over exp indicates an over expression of the Dot1l protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P122R missense unknown DOT1L P122R lies within the DOT1 domain of the Dot1l protein (UniProt.org). P122R has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
P1260L missense unknown DOT1L P1260L does not lie within any known functional domains of the Dot1l protein (UniProt.org). P1260L has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
P465L missense unknown DOT1L P465L does not lie within any known functional domains of the Dot1l protein (UniProt.org). P465L has been identified in sequencing studies (PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
P481S missense unknown DOT1L P481S does not lie within any known functional domains of the Dot1l protein (UniProt.org). P481S has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
P49Q missense unknown DOT1L P49Q lies within the DOT1 domain of the Dot1l protein (UniProt.org). P49Q has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
P664A missense unknown DOT1L P664A does not lie within any known functional domains of the Dot1l protein (UniProt.org). P664A has been identified in sequencing studies (PMID: 27158780), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
P776L missense unknown DOT1L P776L does not lie within any known functional domains of the Dot1l protein (UniProt.org). P776L has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
positive unknown unknown DOT1L positive indicates the presence of the DOT1L gene, mRNA, and/or protein.
Q512H missense unknown DOT1L Q512H does not lie within any known functional domains of the Dotl1 protein (UniProt.org). Q512H has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
Q537E missense unknown DOT1L Q537E does not lie within any known functional domains of the Dot1l protein (UniProt.org). Q537E has been identified in sequencing studies (PMID: 28721375), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
Q737K missense unknown DOT1L Q737K does not lie within any known functional domains of the Dot1l protein (UniProt.org). Q737K has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
R344H missense unknown DOT1L R344H lies within a region required for interaction with nucleosomes and DNA (UniProt.org). R344H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
R409C missense unknown DOT1L R409C lies within the region of the Dot1l protein required for interaction with nucleosomes and DNA (UniProt.org). R409C has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Sep 2020).
R411H missense unknown DOT1L R411H lies within the region of the Dot1l protein required for interaction with nucleosomes and DNA (UniProt.org). R411H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Sep 2020).
R413H missense unknown DOT1L R413H lies within the region of the Dot1l protein required for interaction with nucleosomes and DNA (UniProt.org). R413H has been identified in sequencing studies (PMID: 22895193, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Sep 2020).
R469Q missense unknown DOT1L R469Q does not lie within any known functional domains of the Dot1l protein (UniProt.org). R469Q has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
S118L missense unknown DOT1L S118L lies within the DOT1 domain of the Dot1l protein (UniProt.org). S118L has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
S140F missense unknown DOT1L S140F lies within the DOT1 domain of the Dot1l protein (UniProt.org). S140F has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
S1492F missense unknown DOT1L S1492F does not lie within any known functional domains of the Dot1l protein (UniProt.org). S1492F has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
S458G missense unknown DOT1L S458G does not lie within any known functional domains of the Dot1l protein (UniProt.org). S458G has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
S911L missense unknown DOT1L S911L does not lie within any known functional domains of the Dot1l protein (UniProt.org). S911L has been identified in sequencing studies (PMID: 27158780), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
T1403N missense unknown DOT1L T1403N does not lie within any known functional domains of the Dot1l protein (UniProt.org). T1403N has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
T235M missense unknown DOT1L T235M lies within the DOT1 domain of the Dot1l protein (UniProt.org). T235M has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
T306M missense unknown DOT1L T306M lies within the DOT1 domain of the Dot1l protein (UniProt.org). T306M has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
V1046L missense unknown DOT1L V1046L does not lie within any known functional domains of the Dot1l protein (UniProt.org). V1046L has been identified in sequencing studies (PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
V1103M missense unknown DOT1L V1103M does not lie within any known functional domains of the Dot1l protein (UniProt.org). V1103M has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
V1418L missense unknown DOT1L V1418L does not lie within any known functional domains of the Dot1l protein (UniProt.org). V1418L has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
V240M missense unknown DOT1L V240M lies within the DOT1 domain of the Dot1l protein (UniProt.org). V240M has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
V293_L296delinsMM indel gain of function DOT1L V293_L296delinsMM results in a deletion of four amino acids in the DOT1 domain of the Dot1l protein from amino acids 293 to 296, combined with the insertion of two methionines (M) at the same site (UniProt.org). V293_L296delinsMM results in increased Dot1l lysine methyltransferase activity and decreased sensitivity to EPZ-5676 (pinometostat) in culture (PMID: 28231254).
V874M missense unknown DOT1L V874M does not lie within any known functional domains of the Dot1l protein (UniProt.org). V874M has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
W43F missense unknown DOT1L W43F lies within the DOT1 domain of the Dot1l protein (UniProt.org). W43F has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).
wild-type none no effect Wild-type DOT1L indicates that no mutation has been detected within the DOT1L gene.
Y115N missense unknown DOT1L Y115N lies within the DOT1 domain of the Dot1l protein (UniProt.org). Y115N has not been characterized in the scientific literature and therefore, its effect on Dot1l protein function is unknown (PubMed, Aug 2020).