Gene Detail

Gene Symbol KDM6A
Synonyms bA386N14.2 | KABUK2 | UTX
Gene Description KDM6A, lysine (K)-specific demethylase 6A, is a Jumonji domain histone demethylase, regulating gene transcription through chromatin remodeling to affect cell growth and differentiation. KDM6A altered expression have been reported in HNSCC and bladder cancers (PMID: 25275298, PMID: 25225064).
Entrez Id 7403
Chromosome X
Map Location Xp11.3
Canonical Transcript NM_021140

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E999* nonsense loss of function - predicted KDM6A E999* results in a premature truncation of the Kdm6a protein at amino acid 999 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), E999* is predicted to lead to a loss of Kdm6a function.
Q1133* nonsense loss of function - predicted KDM6A Q1133* results in a premature truncation of the Kdm6a protein at amino acid 1133 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q1133* is predicted to lead to a loss of Kdm6a function.
P110S missense unknown KDM6A P110S lies within the TPR repeat 1 of the Kdm6a protein (UniProt.org). P110S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1085R missense unknown KDM6A G1085R lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). G1085R has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
S1114L missense unknown KDM6A S1114L lies within the JmjC domain of the Kdm6a protein (UniProt.org). S1114L has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
H101D missense unknown KDM6A H101D lies within the TPR repeat 1 of the Kdm6a protein (UniProt.org). H101D has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
L1375P missense unknown KDM6A L1375P does not lie within any known functional domains of the Kdm6a protein (UniProt.org). L1375P has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1314* nonsense unknown KDM6A G1314* results in a premature truncation of the Kdm6a protein at amino acid 1314 of 1401 (UniProt.org). G1314* has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
L187* nonsense loss of function - predicted KDM6A L187* results in a premature truncation of the Kdm6a protein at amino acid 187 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), L187* is predicted to lead to a loss of Kdm6a function.
W1239G missense unknown KDM6A W1239G lies within the JmjC domain of the Kdm6a protein (UniProt.org). W1239G has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
K987* nonsense loss of function - predicted KDM6A K987* results in a premature truncation of the Kdm6a protein at amino acid 987 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), K987* is predicted to lead to a loss of Kdm6a function.
S886Y missense unknown KDM6A S886Y lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). S886Y has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1145D missense unknown KDM6A G1145D lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1145D has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
R393Q missense unknown KDM6A R393Q lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R393Q has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
L1200F missense unknown KDM6A L1200F lies within the JmjC domain of the Kdm6a protein (UniProt.org). L1200F has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
E168* nonsense loss of function - predicted KDM6A E168* results in a premature truncation of the Kdm6a protein at amino acid 168 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), E168* is predicted to lead to a loss of Kdm6a function.
K987R missense unknown KDM6A K987R lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). K987R has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
H702Qfs*28 frameshift loss of function - predicted KDM6A H702Qfs*28 indicates a shift in the reading frame starting at amino acid 702 and terminating 28 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), H702Qfs*28 is predicted to lead to a loss of Kdm6a function.
L1119P missense unknown KDM6A L1119P lies within the JmjC domain of the Kdm6a protein (UniProt.org). L1119P has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Y1256* nonsense unknown KDM6A Y1256* results in a premature truncation of the Kdm6a protein at amino acid 1256 of 1401 (UniProt.org). Y1256* has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Y1256H missense unknown KDM6A Y1256H lies within the JmjC domain of the Kdm6a protein (UniProt.org). Y1256H has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
loss unknown loss of function KDM6A loss indicates loss of the KDM6A gene, mRNA, and protein.
Q555* nonsense loss of function - predicted KDM6A Q555* results in a premature truncation of the Kdm6a protein at amino acid 555 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q555* is predicted to lead to a loss of Kdm6a function.
M494I missense unknown KDM6A M494I lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). M494I has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
R1255W missense unknown KDM6A R1255W lies within the JmjC domain of the Kdm6a protein (UniProt.org). R1255W has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
W1194* nonsense unknown KDM6A W1194* results in a premature truncation of the Kdm6a protein at amino acid 1194 of 1401 (UniProt.org). W1194* has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
P405S missense unknown KDM6A P405S lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P405S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Y126* nonsense loss of function - predicted KDM6A Y126* results in a premature truncation of the Kdm6a protein at amino acid 126 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Y126* is predicted to lead to a loss of Kdm6a function.
N1151S missense unknown KDM6A N1151S lies within the JmjC domain of the Kdm6a protein (UniProt.org). N1151S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
V815F missense unknown KDM6A V815F lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). V815F has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1242R missense unknown KDM6A G1242R lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1242R has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
D1216Y missense unknown KDM6A D1216Y lies within the JmjC domain of the Kdm6a protein (UniProt.org). D1216Y has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
R1213Q missense unknown KDM6A R1213Q lies within the JmjC domain of the Kdm6a protein (UniProt.org). R1213Q has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
E1316Rfs*17 frameshift unknown KDM6A E1316Rfs*17 indicates a shift in the reading frame starting at amino acid 1316 and terminating 17 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). E1316Rfs*17 has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1160V missense unknown KDM6A G1160V lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1160V has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
P966R missense unknown KDM6A P966R lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P966R has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1321W missense unknown KDM6A G1321W does not lie within any known functional domains of the Kdm6a protein (UniProt.org). G1321W has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1085E missense unknown KDM6A G1085E lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). G1085E has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
E315Q missense unknown KDM6A E315Q lies within the TPR repeat 6 of the Kdm6a protein (UniProt.org). E315Q has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Q1377* nonsense unknown KDM6A Q1377* results in a premature truncation of the Kdm6a protein at amino acid 1377 of 1401 (UniProt.org). Q1377* has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
R519P missense unknown KDM6A R519P lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R519P has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
P1269S missense unknown KDM6A P1269S does not lie within any known functional domains of the Kdm6a protein (UniProt.org). P1269S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Q333* nonsense loss of function - predicted KDM6A Q333* results in a premature truncation of the Kdm6a protein at amino acid 333 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q333* is predicted to lead to a loss of Kdm6a function.
V1253G missense unknown KDM6A V1253G lies within the JmjC domain of the Kdm6a protein (UniProt.org). V1253G has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
L1098* nonsense loss of function - predicted KDM6A L1098* results in a premature truncation of the Kdm6a protein at amino acid 1098 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), L1098* is predicted to lead to a loss of Kdm6a function.
V1338F missense unknown KDM6A V1338F does not lie within any known functional domains of the Kdm6a protein (UniProt.org). V1338F has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
A30V missense unknown KDM6A A30V lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). A30V has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1242V missense unknown KDM6A G1242V lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1242V has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
E1316Rfs*40 frameshift unknown KDM6A E1316Rfs*40 indicates a shift in the reading frame starting at amino acid 1316 and terminating 40 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). E1316Rfs*40 has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1223D missense unknown KDM6A G1223D lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1223D has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
L1306S missense unknown KDM6A L1306S does not lie within any known functional domains of the Kdm6a protein (UniProt.org). L1306S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
P566L missense unknown KDM6A P566L lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P566L has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
A1203T missense unknown KDM6A A1203T lies within the JmjC domain of the Kdm6a protein (UniProt.org). A1203T has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
P110R missense unknown KDM6A P110R lies within the TPR repeat 1 of the Kdm6a protein (UniProt.org). P110R has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
D1216N missense unknown KDM6A D1216N lies within the JmjC domain of the Kdm6a protein (UniProt.org). D1216N has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
W1193* nonsense unknown KDM6A W1193* results in a premature truncation of the Kdm6a protein at amino acid 1193 of 1401 (UniProt.org). W1193* has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
F1343C missense unknown KDM6A F1343C does not lie within any known functional domains of the Kdm6a protein (UniProt.org). F1343C has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
N1087D missense unknown KDM6A N1087D lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). N1087D has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
V607M missense unknown KDM6A V607M lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). V607M has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
D336G missense unknown KDM6A D336G lies within TPR repeat 7 of the Kdm6a protein (UniProt.org). D336G has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
A130D missense unknown KDM6A A130D lies within the TPR repeat 2 of the Kdm6a protein (UniProt.org). A130D has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
S295* nonsense loss of function - predicted KDM6A S295* results in a premature truncation of the Kdm6a protein at amino acid 295 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), S295* is predicted to lead to a loss of Kdm6a function.
Q369* nonsense loss of function - predicted KDM6A Q369* results in a premature truncation of the Kdm6a protein at amino acid 369 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q369* is predicted to lead to a loss of Kdm6a function.
S775* nonsense loss of function - predicted KDM6A S775* results in a premature truncation of the Kdm6a protein at amino acid 775 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), S775* is predicted to lead to a loss of Kdm6a function.
E1102K missense unknown KDM6A E1102K lies within the JmjC domain of the Kdm6a protein (UniProt.org). E1102K has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
F1180L missense unknown KDM6A F1180L lies within the JmjC domain of the Kdm6a protein (UniProt.org). F1180L has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Y1173N missense unknown KDM6A Y1173N lies within the JmjC domain of the Kdm6a protein (UniProt.org). Y1173N has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
G1140E missense unknown KDM6A G1140E lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1140E has been identified in sequencing studies (PMID: 23685749), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, May 2018).
Q1229* nonsense unknown KDM6A Q1229* results in a premature truncation of the Kdm6a protein at amino acid 1229 of 1401 (UniProt.org). Q1229* has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
T1002A missense unknown KDM6A T1002A lies within the SUPT6H interaction domain of the Kdm6a protein (UniProt.org). T1002A as been identified in sequencing studies (PMID: 23685749), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, May 2018)
Q398H missense unknown KDM6A Q398H lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). Q398H has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Y126Tfs*54 frameshift loss of function - predicted KDM6A Y126Tfs*54 indicates a shift in the reading frame starting at amino acid 126 and terminating 54 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Y126Tfs*54 is predicted to lead to a loss of Kdm6a function.
Q333K missense unknown KDM6A Q333K lies within the TPR repeat 7 of the Kdm6a protein (UniProt.org). Q333K has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
R1322W missense unknown KDM6A R1322W does not lie within any known functional domains of the Kdm6a protein (UniProt.org). R1322W has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
P877L missense unknown KDM6A P877L lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P877L has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
N1158H missense unknown KDM6A N1158H lies within the JmjC domain of the Kdm6a protein (UniProt.org). N1158H has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
V1205G missense unknown KDM6A V1205G lies within the JmjC domain of the Kdm6a protein (UniProt.org). V1205G has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
D261H missense unknown KDM6A D261H lies within the TPR repeat 5 of the Kdm6a protein (UniProt.org). D261H has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
N906Kfs*5 frameshift loss of function - predicted KDM6A N906Kfs*5 indicates a shift in the reading frame starting at amino acid 906 and terminating 5 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), N906Kfs*5 is predicted to lead to a loss of Kdm6a function.
G653S missense unknown KDM6A G653S lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). G653S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
R901M missense unknown KDM6A R901M lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R901M has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
C1334Y missense unknown KDM6A C1334Y does not lie within any known functional domains of the Kdm6a protein (UniProt.org). C1334Y has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
N902S missense unknown KDM6A N902S lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). N902S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
R971C missense unknown KDM6A R971C lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R971C has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
L416F missense unknown KDM6A L416F lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). L416F has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2018).
Q541* nonsense loss of function - predicted KDM6A Q541* results in a premature truncation of the Kdm6a protein at amino acid 541 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q541* is predicted to lead to a loss of Kdm6a function.
Q117* nonsense loss of function - predicted KDM6A Q117* results in a premature truncation of the Kdm6a protein at amino acid 117 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q117* is predicted to lead to a loss of Kdm6a function.
Molecular Profile Protein Effect Treatment Approaches
KDM6A E999* loss of function - predicted
KDM6A Q1133* loss of function - predicted
KDM6A P110S unknown
KDM6A G1085R unknown
KDM6A S1114L unknown
KDM6A H101D unknown
KDM6A L1375P unknown
KDM6A G1314* unknown
KDM6A L187* loss of function - predicted
KDM6A W1239G unknown
KDM6A K987* loss of function - predicted
KDM6A S886Y unknown
KDM6A G1145D unknown
KDM6A R393Q unknown
KDM6A L1200F unknown
KDM6A E168* loss of function - predicted
KDM6A K987R unknown
KDM6A H702Qfs*28 loss of function - predicted
KDM6A L1119P unknown
KDM6A Y1256* unknown
KDM6A Y1256H unknown
KDM6A loss loss of function EZH2 inhibitor
KDM6A Q555* loss of function - predicted
KDM6A M494I unknown
KDM6A R1255W unknown
KDM6A W1194* unknown
KDM6A P405S unknown
KDM6A Y126* loss of function - predicted
KDM6A N1151S unknown
KDM6A V815F unknown
KDM6A G1242R unknown
KDM6A D1216Y unknown
KDM6A R1213Q unknown
KDM6A E1316Rfs*17 unknown
KDM6A G1160V unknown
KDM6A P966R unknown
KDM6A G1321W unknown
KDM6A G1085E unknown
KDM6A E315Q unknown
KDM6A Q1377* unknown
KDM6A R519P unknown
KDM6A P1269S unknown
KDM6A Q333* loss of function - predicted
KDM6A V1253G unknown
KDM6A L1098* loss of function - predicted
KDM6A V1338F unknown
KDM6A A30V unknown
KDM6A G1242V unknown
KDM6A E1316Rfs*40 unknown
KDM6A G1223D unknown
KDM6A L1306S unknown
KDM6A P566L unknown
KDM6A A1203T unknown
KDM6A P110R unknown
KDM6A D1216N unknown
KDM6A W1193* unknown
KDM6A F1343C unknown
KDM6A N1087D unknown
KDM6A V607M unknown
KDM6A D336G unknown
KDM6A A130D unknown
KDM6A S295* loss of function - predicted
KDM6A Q369* loss of function - predicted
KDM6A S775* loss of function - predicted
KDM6A E1102K unknown
KDM6A F1180L unknown
KDM6A Y1173N unknown
KDM6A G1140E unknown
KDM6A Q1229* unknown
KDM6A T1002A unknown
KDM6A Q398H unknown
KDM6A Y126Tfs*54 loss of function - predicted
KDM6A Q333K unknown
KDM6A R1322W unknown
KDM6A P877L unknown
KDM6A N1158H unknown
KDM6A V1205G unknown
KDM6A D261H unknown
KDM6A N906Kfs*5 loss of function - predicted
KDM6A G653S unknown
KDM6A R901M unknown
KDM6A C1334Y unknown
KDM6A N902S unknown
KDM6A R971C unknown
KDM6A L416F unknown
KDM6A Q541* loss of function - predicted
KDM6A Q117* loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KDM6A loss multiple myeloma sensitive GSK126 Preclinical - Cell line xenograft Actionable In a preclinical study, a multiple myeloma cell line demonstrated sensitivity to treatment with GSK126, resulting in decreased viability in culture and decreased tumor growth in xenograft models (PMID: 29045832). 29045832
KDM6A loss bladder urothelial carcinoma sensitive GSK503 Preclinical - Pdx Actionable In a preclinical study, GSK503 inhibited tumor growth in a cell line xenograft model and in a patient-derived xenograft (PDX) model of KDM6A-null urothelial bladder carcinoma (PMID: 28228601). 28228601
KDM6A loss multiple myeloma sensitive GSK343 Preclinical - Cell culture Actionable In a preclinical study, a multiple myeloma cell line with KDM6A loss demonstrated sensitivity to treatment with GSK343, resulting in cell-cycle arrest and increased apoptosis in culture (PMID: 29045832). 29045832
KDM6A loss bladder urothelial carcinoma sensitive Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, KDM6A-null urothelial bladder carcinoma cell lines demonstrated sensitivity to Tazemetostat (EPZ-6438), resulting in decreased proliferation in culture (PMID: 28228601). 28228601
KDM6A loss bladder urothelial carcinoma sensitive GSK343 Preclinical - Cell line xenograft Actionable In a preclinical study, GSK343 inhibited proliferation of KDM6A-null urothelial bladder carcinoma cell lines in culture, and delayed tumor onset, improved survival, and inhibited tumor growth in xenograft models (PMID: 28228601). 28228601
KDM6A loss bladder urothelial carcinoma sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, KDM6A-null urothelial bladder carcinoma cell lines demonstrated sensitivity to GSK126, resulting in decreased proliferation in culture (PMID: 28228601). 28228601