KDM6A [The Human Chemical-Genetic Interaction Map Project]

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======= KDM6A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KDM6A
  * **<color #00a2e8>Official Name</color>**: lysine demethylase 6A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7403|7403]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O15550|O15550]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KDM6A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KDM6A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300128|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Histone demethylase that specifically demethylates 'Lys- 27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity). {ECO:0000250|UniProtKB:O70546, ECO:0000269|PubMed:17713478, ECO:0000269|PubMed:17761849, ECO:0000269|PubMed:17851529, ECO:0000269|PubMed:18003914}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|TPR 1|
|JmjC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|histone demethylase activity (H3-K27 specific)|
|histone H3-K27 demethylation|
|somite rostral/caudal axis specification|
|notochord morphogenesis|
|respiratory system process|
|MLL3/4 complex|
|notochord development|
|dioxygenase activity|
|mesodermal cell differentiation|
|histone lysine demethylation|
|histone demethylation|
|protein demethylation|
|protein dealkylation|
|embryonic axis specification|
|histone H3-K4 methylation|
|histone methyltransferase complex|
|respiratory gaseous exchange by respiratory system|
|anterior/posterior axis specification|
|embryonic pattern specification|
|demethylation|
|somitogenesis|
|mesoderm formation|
|mesoderm morphogenesis|
|chromatin DNA binding|
|histone lysine methylation|
|somite development|
|multicellular organism growth|
|axis specification|
|peptidyl-lysine methylation|
|canonical Wnt signaling pathway|
|neural tube closure|
|tube closure|
|histone methylation|
|segmentation|
|primary neural tube formation|
|neural tube formation|
|formation of primary germ layer|
|embryonic epithelial tube formation|
|mesoderm development|
|epithelial tube formation|
|protein methylation|
|protein alkylation|
|morphogenesis of embryonic epithelium|
|tube formation|
|gastrulation|
|neural tube development|
|chromatin remodeling|
|anterior/posterior pattern specification|
|heart morphogenesis|
|macromolecule methylation|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|methylation|
|peptidyl-lysine modification|
|regionalization|
|Wnt signaling pathway|
|cell-cell signaling by wnt|
|histone modification|
|covalent chromatin modification|
|in utero embryonic development|
|developmental growth|
|growth|
|chromatin binding|
|sequence-specific DNA binding|
|cell surface receptor signaling pathway involved in cell-cell signaling|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|RNA polymerase II proximal promoter sequence-specific DNA binding|
|cardiovascular system development|
|heart development|
|tissue morphogenesis|
|embryonic morphogenesis|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|chromatin organization|
|tube development|
|circulatory system development|
|peptidyl-amino acid modification|
|anatomical structure formation involved in morphogenesis|
|animal organ morphogenesis|
|oxidation-reduction process|
|embryo development|
|chromosome organization|
|identical protein binding|
|epithelium development|
|cell-cell signaling|
|tissue development|
|system process|
|positive regulation of gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|-2.11|
|[[:results:exp94|Nocodazole 0.1μM R03 exp94]]|-1.99|
|[[:results:exp179|Combretastatin A4 0.002 to 0.003μM day4 R04 exp179]]|-1.85|
|[[:results:exp97|BI-6727 0.0125μM R03 exp97]]|-1.82|
|[[:results:exp229|Dimethyloxaloylglycine 100μM R05 exp229]]|1.71|
|[[:results:exp333|All-trans-Retinoic-Acid 8μM R07 exp333]]|1.75|
|[[:results:exp317|Geldanamycin 0.015 to 0.05μM on day4 R07 exp317]]|1.75|
|[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|1.77|
|[[:results:exp439|QNZ 0.01μM R08 exp439]]|1.79|
|[[:results:exp508|NN-Dimethylsphingosine 2.5μM R08 exp508]]|1.8|
|[[:results:exp399|Salubrinal 20μM R07 exp399]]|1.8|
|[[:results:exp286|HMS-I2 1μM R06 exp286]]|1.83|
|[[:results:exp410|THZ531 0.11 to 0.125μM on day4 R07 exp410]]|1.88|
|[[:results:exp389|PF-06409577 20μM R07 exp389]]|1.89|
|[[:results:exp11|CCCP 1μM R00 exp11]]|1.9|
|[[:results:exp30|Rapamycin 10μM R00 exp30]]|1.91|
|[[:results:exp380|NMS-873 0.07μM R07 exp380]]|2.05|
|[[:results:exp425|Beta-Estradiol 0.55μM R07 exp425]]|2.13|
|[[:results:exp499|LY2090314 0.003μM R08 exp499]]|2.13|
|[[:results:exp533|TNF-alpha 44ng/ml R08 exp533]]|2.13|
|[[:results:exp365|I-BRD9 4μM R07 exp365]]|2.14|
|[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|2.19|
|[[:results:exp497|Lead acetate 2000μM R08 exp497]]|2.21|
|[[:results:exp452|Azithromycin 100μM R08 exp452]]|2.3|
|[[:results:exp306|Rapamycin 2μM R07 exp306]]|2.3|
|[[:results:exp470|Chloroquine 32μM R08 exp470]]|2.34|
|[[:results:exp405|Tenofovir 10μM R07 exp405]]|2.45|
|[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|2.46|
|[[:results:exp23|Nocodazole 0.02μM R00 exp23]]|2.64|
|[[:results:exp234|Ethanol 0.01 R05 exp234]]|2.78|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:anp32a|ANP32A]]|0.625|
|[[:human genes:p:pds5b|PDS5B]]|0.545|
|[[:human genes:p:pcgf1|PCGF1]]|0.499|
|[[:human genes:a:arid4b|ARID4B]]|0.495|
|[[:human genes:m:memo1|MEMO1]]|0.494|
|[[:human genes:u:uty|UTY]]|0.494|
|[[:human genes:g:glyr1|GLYR1]]|0.473|
|[[:human genes:p:prr14l|PRR14L]]|0.465|
|[[:human genes:c:cnot2|CNOT2]]|0.457|
|[[:human genes:r:rbm38|RBM38]]|0.449|
|[[:human genes:f:fam122a|FAM122A]]|0.441|
|[[:human genes:y:ypel5|YPEL5]]|0.438|
|[[:human genes:p:poldip2|POLDIP2]]|0.425|
|[[:human genes:e:esco1|ESCO1]]|0.423|
|[[:human genes:z:zbtb18|ZBTB18]]|0.423|
|[[:human genes:r:ring1|RING1]]|0.415|
|[[:human genes:c:cdk8|CDK8]]|0.415|
|[[:human genes:w:wdr26|WDR26]]|0.413|
|[[:human genes:d:dnttip1|DNTTIP1]]|0.412|
|[[:human genes:u:ube2h|UBE2H]]|0.411|
|[[:human genes:z:znf148|ZNF148]]|0.404|
|[[:human genes:z:zbtb14|ZBTB14]]|0.402|
|[[:human genes:d:dock6|DOCK6]]|0.401|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/683
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/25|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/14|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 17989
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.2 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KDM6A Expression in NALM6 Cells: 5.2'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>