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KDM6A (lysine demethylase 6A)

Identity

Alias_namesUTX
ubiquitously transcribed tetratricopeptide repeat, X chromosome
lysine (K)-specific demethylase 6A
HGNC (Hugo) KDM6A
LocusID (NCBI) 7403
Atlas_Id 50993
Location Xp11.3  [Link to chromosome band Xp11]
Location_base_pair Starts at 44732421 and ends at 44971857 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KDM6A (Xp11.3) / ANOS1 (Xp22.31)KDM6A (Xp11.3) / DCAF7 (17q23.3)KDM6A (Xp11.3) / ETFBKMT (12p11.21)
KDM6A (Xp11.3) / PDHX (11p13)KDM6A (Xp11.3) / STOML3 (13q13.3)KDM6A (Xp11.3) / ZNF674 (Xp11.3)
PDHX (11p13) / KDM6A (Xp11.3)SLC7A5 (16q24.2) / KDM6A (Xp11.3)USP9X (Xp11.4) / KDM6A (Xp11.3)
KDM6A Xp11.3 / DCAF7 17q23.3KDM6A Xp11.3 KAL1KDM6A Xp11.3 / METTL20 12p11.21
KDM6A Xp11.3 / PDHX 11p13KDM6A Xp11.3 / ZNF674 Xp11.3PDHX 11p13 / KDM6A Xp11.3
USP9X Xp11.4 / KDM6A Xp11.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Chronic Myelomonocytic Leukemia (CMML)


External links

Nomenclature
HGNC (Hugo)KDM6A   12637
LRG (Locus Reference Genomic)LRG_616
Cards
Entrez_Gene (NCBI)KDM6A  7403  lysine demethylase 6A
AliasesKABUK2; UTX; bA386N14.2
GeneCards (Weizmann)KDM6A
Ensembl hg19 (Hinxton)ENSG00000147050 [Gene_View]  chrX:44732421-44971857 [Contig_View]  KDM6A [Vega]
Ensembl hg38 (Hinxton)ENSG00000147050 [Gene_View]  chrX:44732421-44971857 [Contig_View]  KDM6A [Vega]
ICGC DataPortalENSG00000147050
TCGA cBioPortalKDM6A
AceView (NCBI)KDM6A
Genatlas (Paris)KDM6A
WikiGenes7403
SOURCE (Princeton)KDM6A
Genetics Home Reference (NIH)KDM6A
Genomic and cartography
GoldenPath hg19 (UCSC)KDM6A  -     chrX:44732421-44971857 +  Xp11.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KDM6A  -     Xp11.3   [Description]    (hg38-Dec_2013)
EnsemblKDM6A - Xp11.3 [CytoView hg19]  KDM6A - Xp11.3 [CytoView hg38]
Mapping of homologs : NCBIKDM6A [Mapview hg19]  KDM6A [Mapview hg38]
OMIM147920   300128   300867   
Gene and transcription
Genbank (Entrez)AB208795 AF000992 AF000993 AI364446 AK294456
RefSeq transcript (Entrez)NM_001291415 NM_001291416 NM_001291417 NM_001291418 NM_001291421 NM_021140
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016260 NT_079573 NW_004929439
Consensus coding sequences : CCDS (NCBI)KDM6A
Cluster EST : UnigeneHs.522616 [ NCBI ]
CGAP (NCI)Hs.522616
Alternative Splicing GalleryENSG00000147050
Gene ExpressionKDM6A [ NCBI-GEO ]   KDM6A [ EBI - ARRAY_EXPRESS ]   KDM6A [ SEEK ]   KDM6A [ MEM ]
Gene Expression Viewer (FireBrowse)KDM6A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7403
GTEX Portal (Tissue expression)KDM6A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15550   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15550  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15550
Splice isoforms : SwissVarO15550
Catalytic activity : Enzyme1.14.11.- [ Enzyme-Expasy ]   1.14.11.-1.14.11.- [ IntEnz-EBI ]   1.14.11.- [ BRENDA ]   1.14.11.- [ KEGG ]   
PhosPhoSitePlusO15550
Domaine pattern : Prosite (Expaxy)JMJC (PS51184)    TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)JmjC_dom    KDM6A    TPR-contain_dom    TPR-like_helical_dom    TPR_1    TPR_repeat   
Domain families : Pfam (Sanger)JmjC (PF02373)    TPR_1 (PF00515)    TPR_11 (PF13414)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam02373    pfam00515    pfam13414    pfam13181   
Domain families : Smart (EMBL)JmjC (SM00558)  TPR (SM00028)  
Conserved Domain (NCBI)KDM6A
DMDM Disease mutations7403
Blocks (Seattle)KDM6A
PDB (SRS)3AVR    3AVS   
PDB (PDBSum)3AVR    3AVS   
PDB (IMB)3AVR    3AVS   
PDB (RSDB)3AVR    3AVS   
Structural Biology KnowledgeBase3AVR    3AVS   
SCOP (Structural Classification of Proteins)3AVR    3AVS   
CATH (Classification of proteins structures)3AVR    3AVS   
SuperfamilyO15550
Human Protein AtlasENSG00000147050
Peptide AtlasO15550
HPRD02131
IPIIPI01012755   IPI00007362   IPI00384086   IPI00645700   IPI01019093   IPI01014377   IPI00644732   IPI01009497   IPI00643262   
Protein Interaction databases
DIP (DOE-UCLA)O15550
IntAct (EBI)O15550
FunCoupENSG00000147050
BioGRIDKDM6A
STRING (EMBL)KDM6A
ZODIACKDM6A
Ontologies - Pathways
QuickGOO15550
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  in utero embryonic development  neural tube closure  heart morphogenesis  respiratory system process  nucleus  nucleoplasm  positive regulation of gene expression  chromatin DNA binding  histone demethylase activity  somite rostral/caudal axis specification  histone methyltransferase complex  multicellular organism growth  identical protein binding  MLL3/4 complex  metal ion binding  mesodermal cell differentiation  notochord morphogenesis  dioxygenase activity  histone H3-K4 methylation  oxidation-reduction process  canonical Wnt signaling pathway  histone H3-K27 demethylation  histone demethylase activity (H3-K27 specific)  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  in utero embryonic development  neural tube closure  heart morphogenesis  respiratory system process  nucleus  nucleoplasm  positive regulation of gene expression  chromatin DNA binding  histone demethylase activity  somite rostral/caudal axis specification  histone methyltransferase complex  multicellular organism growth  identical protein binding  MLL3/4 complex  metal ion binding  mesodermal cell differentiation  notochord morphogenesis  dioxygenase activity  histone H3-K4 methylation  oxidation-reduction process  canonical Wnt signaling pathway  histone H3-K27 demethylation  histone demethylase activity (H3-K27 specific)  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkKDM6A
Atlas of Cancer Signalling NetworkKDM6A
Wikipedia pathwaysKDM6A
Orthology - Evolution
OrthoDB7403
GeneTree (enSembl)ENSG00000147050
Phylogenetic Trees/Animal Genes : TreeFamKDM6A
HOVERGENO15550
HOGENOMO15550
Homologs : HomoloGeneKDM6A
Homology/Alignments : Family Browser (UCSC)KDM6A
Gene fusions - Rearrangements
Fusion : MitelmanKDM6A/ANOS1 [Xp11.3/Xp22.31]  
Fusion : MitelmanKDM6A/DCAF7 [Xp11.3/17q23.3]  [t(X;17)(p11;q23)]  
Fusion : MitelmanKDM6A/METTL20 [Xp11.3/12p11.21]  [t(X;12)(p11;p11)]  
Fusion : MitelmanKDM6A/PDHX [Xp11.3/11p13]  [t(X;11)(p11;p13)]  
Fusion : MitelmanKDM6A/ZNF674 [Xp11.3/Xp11.3]  [t(X;X)(p11;p11)]  
Fusion : MitelmanPDHX/KDM6A [11p13/Xp11.3]  [t(X;11)(p11;p13)]  
Fusion : MitelmanUSP9X/KDM6A [Xp11.4/Xp11.3]  [t(X;X)(p11;p11)]  
Fusion: TCGAKDM6A Xp11.3 DCAF7 17q23.3 LUAD
Fusion: TCGAKDM6A Xp11.3 KAL1 BLCA
Fusion: TCGAKDM6A Xp11.3 METTL20 12p11.21 LUAD
Fusion: TCGAKDM6A Xp11.3 PDHX 11p13 BRCA
Fusion: TCGAKDM6A Xp11.3 ZNF674 Xp11.3 LUAD
Fusion: TCGAPDHX 11p13 KDM6A Xp11.3 BRCA
Fusion: TCGAUSP9X Xp11.4 KDM6A Xp11.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKDM6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KDM6A
dbVarKDM6A
ClinVarKDM6A
1000_GenomesKDM6A 
Exome Variant ServerKDM6A
ExAC (Exome Aggregation Consortium)KDM6A (select the gene name)
Genetic variants : HAPMAP7403
Genomic Variants (DGV)KDM6A [DGVbeta]
DECIPHER (Syndromes)X:44732421-44971857  ENSG00000147050
CONAN: Copy Number AnalysisKDM6A 
Mutations
ICGC Data PortalKDM6A 
TCGA Data PortalKDM6A 
Broad Tumor PortalKDM6A
OASIS PortalKDM6A [ Somatic mutations - Copy number]
Cancer Gene: CensusKDM6A 
Somatic Mutations in Cancer : COSMICKDM6A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKDM6A
intOGen PortalKDM6A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)NGRL, Manchester LOVD
BioMutasearch KDM6A
DgiDB (Drug Gene Interaction Database)KDM6A
DoCM (Curated mutations)KDM6A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KDM6A (select a term)
intoGenKDM6A
Cancer3DKDM6A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147920    300128    300867   
Orphanet2177   
MedgenKDM6A
Genetic Testing Registry KDM6A
NextProtO15550 [Medical]
TSGene7403
GENETestsKDM6A
Huge Navigator KDM6A [HugePedia]
snp3D : Map Gene to Disease7403
BioCentury BCIQKDM6A
ClinGenKDM6A (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7403
Chemical/Pharm GKB GenePA37262
Drug Sensitivity KDM6A
Clinical trialKDM6A
Miscellaneous
canSAR (ICR)KDM6A (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKDM6A
EVEXKDM6A
GoPubMedKDM6A
iHOPKDM6A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:41:06 CET 2016

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