KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 GeneticVariation group BEFREE Analyses of matched diagnosis and relapse specimens from individuals with KDM6A mutations showed an outgrowth of the KDM6A mutated tumor population at relapse. 31201358 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 GeneticVariation group BEFREE We exploit the loss of function mutations in KDM6A and SWI/SNF complex to make bladder cancer cells susceptible to EZH2-based epigenetic therapy that activates an immune response to drive tumor cell differentiation and death. 30692641 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE In conclusion, KDM6A exhibited essential roles in human PDAC as a tumor suppressor and KDM6A deficiency could be a promising biomarker for unfavorable outcome in PDAC patients and a potential surrogate marker for response to HDAC inhibitors. 30556125 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE We also demonstrate that KDM6A-deficient pancreatic cancer is selectively sensitive to BET inhibitors, which reversed squamous differentiation and restrained tumor growth in vivo, highlighting a therapeutic niche for patient tailored therapies. 29533787 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 GeneticVariation group BEFREE Furthermore, using the next-generation sequencing approach, we identified mutations in the tumour suppressor genes KDM6A and TP53. 28695659 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 GeneticVariation group BEFREE Mutations in FGFR3 and KDM6A are more common in NMIBC than in MIBC, whereas mutations in TP53 and KMT2D are more common in MIBC, suggesting the previously hypothesized 2 different pathways, with a subset of tumors progressing from NMIBC to MIBC. 29573965 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE Inhibition of the Histone H3K27 Demethylase UTX Enhances Tumor Cell Radiosensitivity. 29483212 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 AlteredExpression group BEFREE Efnb1 is overexpressed in UTX KO tumors and can lead to such phenotypes. 30006524 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE A gene co-expression network identified using TCGA prostate tumour RNA-sequencing identifies co-regulated cancer genes associated with 2-oxoglutarate (2-OG) and succinate metabolism, including TET2, lysine demethylase (KDM) KDM6A, BRCA1-associated BAP1, and citric acid cycle enzymes IDH1/2, SDHA/B, and FH. 27819678 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2. 28228601 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE Therefore, UTX-MLL4 immunoreactivity could be a useful predictor of the response to conventional treatment with radiotherapy or chemotherapy among GBM patients whose tumors have a methylated MGMT promoter. 27367247 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE KDM6A is a candidate tumor suppressor gene that encodes a histone H3 lysine 27 (H3K27) demethylase. 28698146 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE More mutations in the histone lysine demethylase KDM6A were present in non-invasive tumors from females than males. 29136510 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE Furthermore, we demonstrate that UTX, previously described as a tumor suppressor in T-ALL, is in fact a pro-oncogenic cofactor essential for leukemia maintenance in TAL1-positive (but not TAL1-negative) T-ALL. 26944678 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 AlteredExpression group BEFREE We further characterized how the gene structures of the oncogene JAK1 and the tumor suppressors KDM6A and RB1 are affected by somatic SVs and discussed the potential functional implications of intergenic SVs. 26283183 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 GeneticVariation group BEFREE Recurrent mutations were identified in tumor suppressor genes TP53 (n = 4), SMAD4 (n = 2), and CYLD (n = 2); and chromatin remodeling genes KDM6A (n = 3), SETD2 (n = 2), MLL3 (n = 2), and MLL2 (n = 2). 25299233 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE We examined the function of KDM6A, altered in 24% of tumors, and show depletion in human bladder cancer cells, enhanced in vitro proliferation, in vivo tumor growth, and cell migration. 25225064 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 GeneticVariation group BEFREE Cancer genome sequencing has revealed the genetic basis of H3K27me deregulation, including mutations of the components of the H3K27 methyltransferase complex PRC2 and accessory proteins, and deletions and inactivating mutations of the H3K27 demethylase UTX in a wide variety of neoplasms. 24987060 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE Notably, we also report mutations affecting the MLL2-binding partner KDM6A, in 4 % (7/175) of tumors. 23184418 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 GeneticVariation group BEFREE Differences in expression profiles were also found to exist between individual breast tumors and, in some cases, were significantly associated with conventional pathological parameters and prognostic indices: tumor grade (K (lysine) acetyltransferase 5 (KAT5), HDAC1, KDM4A, SUV39H1 and KDM6A)); TNM stage (SUV39H1, K (lysine) acetyltransferase 2B (KAT2B), lysine (K)-specific demethylase 1A (KDM1A), KDM4A, lysine (K)-specific demethylase 5C (KDM5C), K (lysine) acetyltransferase 8 (KAT8), HDAC5 and KAT5)); Nottingham Prognostic Index (KDM5C, myeloid/lymphoid or mixed-lineage leukemia (MLL), KAT8 and SET and MYND domain containing 3 (SMYD3)); receptor status (KAT5, SMYD3 and KDM1A); histological type (KAT5, KDM5C, KAT8, KDM4A and MLL); disease-free survival (SUV39H1, SMYD3, HDAC5, KDM6A, HDAC1, KDM1A, KDM4A, KAT8, KDM5C, KAT5 and MLL) and overall survival (KAT8). 22199269 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE The H3K27me3 demethylase UTX functions in development and tumor suppression with undefined mechanisms. 20123895 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group BEFREE In summary, these data suggest that dUTX is a suppressor of Notch- and Rbf-dependent tumors in Drosophila melanogaster and may provide a model for UTX-dependent tumorigenesis in humans. 20212086 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.400 Biomarker group CTD_human Here, we describe inactivating somatic mutations in the histone lysine demethylase gene UTX, pointing to histone H3 lysine methylation deregulation in multiple tumor types. 19330029 2009