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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for KDM6A |
 Gene summary |
| Gene information | Gene symbol | KDM6A | Gene ID | 7403 |
| Gene name | lysine demethylase 6A | |
| Synonyms | KABUK2|UTX|bA386N14.2 | |
| Cytomap | Xp11.3 | |
| Type of gene | protein-coding | |
| Description | lysine-specific demethylase 6AbA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))histone demethylase UTXlysine (K)-specific demethylase 6Aubiquitously transcribed tetratricopeptide repeat protein X-linkedubiquito | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for KDM6A |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000147050
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000621147.4 | KDM6A-214:protein_coding:KDM6A | 4.348063e+00 | 2.225243e+00 | 1.332747e-05 | 1.342488e-04 |
| CB | UP | ENST00000451692.5 | KDM6A-206:protein_coding:KDM6A | 2.161719e+00 | 2.280656e+00 | 4.456682e-05 | 3.728432e-04 |
| CB | UP | ENST00000377967.8 | KDM6A-201:protein_coding:KDM6A | 2.185002e+02 | 8.151675e-01 | 2.253904e-04 | 1.473809e-03 |
| CB | UP | ENST00000536777.5 | KDM6A-211:protein_coding:KDM6A | 1.221876e+02 | 9.699371e-01 | 9.303720e-04 | 4.860319e-03 |
| TC | UP | ENST00000451692.5 | KDM6A-206:protein_coding:KDM6A | 1.473802e+00 | 1.438868e+00 | 4.790156e-03 | 3.246365e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KDM6A |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_120305 | chrX | 45059346:45059466:45060022:45060156:45061324:45061419 | 45060022:45060156 |
| exon_skip_14493 | chrX | 45082586:45082640:45082715:45082789:45083460:45083523 | 45082715:45082789 |
| exon_skip_156895 | chrX | 45089743:45089930:45090723:45090832:45107410:45107536 | 45090723:45090832 |
| exon_skip_183914 | chrX | 45059346:45059466:45060609:45060764:45061324:45061419 | 45060609:45060764 |
| exon_skip_189850 | chrX | 45083522:45083608:45085865:45085979:45089743:45089930 | 45085865:45085979 |
| exon_skip_190824 | chrX | 44961284:44961392:44974666:44974715:45010961:45011019 | 44974666:44974715 |
| exon_skip_205635 | chrX | 45090817:45090864:45106542:45106649:45107410:45107536 | 45106542:45106649 |
| exon_skip_221005 | chrX | 45037655:45037689:45051709:45051802:45053829:45053955 | 45051709:45051802 |
| exon_skip_24024 | chrX | 45061324:45061419:45062647:45062748:45063422:45063676 | 45062647:45062748 |
| exon_skip_242542 | chrX | 45059346:45059466:45060022:45060156:45060609:45060764 | 45060022:45060156 |
| exon_skip_25414 | chrX | 45060057:45060156:45060609:45060764:45061324:45061419 | 45060609:45060764 |
| exon_skip_285152 | chrX | 45083460:45083608:45085865:45085979:45089743:45089930 | 45085865:45085979 |
| exon_skip_3231 | chrX | 45089743:45089930:45090723:45090864:45107410:45107536 | 45090723:45090864 |
| exon_skip_63539 | chrX | 44974666:44974715:45010961:45011019:45020610:45020730 | 45010961:45011019 |
| exon_skip_90002 | chrX | 45010961:45011019:45020610:45020730:45034931:45034985 | 45020610:45020730 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for KDM6A |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000377967 | 44974666 | 44974715 | Frame-shift |
| ENST00000377967 | 45020610 | 45020730 | Frame-shift |
| ENST00000377967 | 45051709 | 45051802 | Frame-shift |
| ENST00000377967 | 45085865 | 45085979 | Frame-shift |
| ENST00000377967 | 45090723 | 45090864 | Frame-shift |
| ENST00000377967 | 45060022 | 45060156 | In-frame |
| ENST00000377967 | 45062647 | 45062748 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000377967 | 44974666 | 44974715 | Frame-shift |
| ENST00000377967 | 45020610 | 45020730 | Frame-shift |
| ENST00000377967 | 45051709 | 45051802 | Frame-shift |
| ENST00000377967 | 45085865 | 45085979 | Frame-shift |
| ENST00000377967 | 45060022 | 45060156 | In-frame |
| ENST00000377967 | 45062647 | 45062748 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000377967 | 44974666 | 44974715 | Frame-shift |
| ENST00000377967 | 45010961 | 45011019 | Frame-shift |
| ENST00000377967 | 45020610 | 45020730 | Frame-shift |
| ENST00000377967 | 45051709 | 45051802 | Frame-shift |
| ENST00000377967 | 45085865 | 45085979 | Frame-shift |
| ENST00000377967 | 45090723 | 45090864 | Frame-shift |
| ENST00000377967 | 45060022 | 45060156 | In-frame |
| ENST00000377967 | 45062647 | 45062748 | In-frame |
| ENST00000377967 | 45082715 | 45082789 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KDM6A |
p-ENSG00000147050_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000377967 | 5455 | 1401 | 45060022 | 45060156 | 1237 | 1370 | 398 | 443 |
| ENST00000377967 | 5455 | 1401 | 45062647 | 45062748 | 1468 | 1568 | 475 | 509 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000377967 | 5455 | 1401 | 45060022 | 45060156 | 1237 | 1370 | 398 | 443 |
| ENST00000377967 | 5455 | 1401 | 45062647 | 45062748 | 1468 | 1568 | 475 | 509 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000377967 | 5455 | 1401 | 45060022 | 45060156 | 1237 | 1370 | 398 | 443 |
| ENST00000377967 | 5455 | 1401 | 45062647 | 45062748 | 1468 | 1568 | 475 | 509 |
| ENST00000377967 | 5455 | 1401 | 45082715 | 45082789 | 3252 | 3325 | 1070 | 1094 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O15550 | 398 | 443 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 398 | 443 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 475 | 509 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 475 | 509 | 497 | 497 | Natural variant | ID=VAR_014493;Note=Q->H;Dbxref=dbSNP:rs6530 |
| O15550 | 475 | 509 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O15550 | 398 | 443 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 398 | 443 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 475 | 509 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 475 | 509 | 497 | 497 | Natural variant | ID=VAR_014493;Note=Q->H;Dbxref=dbSNP:rs6530 |
| O15550 | 475 | 509 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O15550 | 398 | 443 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 398 | 443 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 475 | 509 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 475 | 509 | 497 | 497 | Natural variant | ID=VAR_014493;Note=Q->H;Dbxref=dbSNP:rs6530 |
| O15550 | 475 | 509 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 1070 | 1094 | 1081 | 1089 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3AVR |
| O15550 | 1070 | 1094 | 1 | 1401 | Chain | ID=PRO_0000106409;Note=Lysine-specific demethylase 6A |
| O15550 | 1070 | 1094 | 1 | 1095 | Region | Note=Interaction with SUPT6H;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15550 | 1070 | 1094 | 1093 | 1096 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3AVR |
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3'-UTR located exon skipping events that lost miRNA binding sites in KDM6A |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for KDM6A |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for KDM6A |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDM6A |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for KDM6A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF2 | exon_skip_242542 | -4.015682e-01 | 7.905578e-06 |
| CB | HNRNPDL | exon_skip_242542 | -5.707159e-01 | 2.252665e-11 |
| CB | RBM45 | exon_skip_242542 | -4.748960e-01 | 7.199209e-08 |
| CB | HNRNPD | exon_skip_242542 | -4.089825e-01 | 5.160304e-06 |
| CB | SRSF9 | exon_skip_242542 | -4.022184e-01 | 7.618412e-06 |
| CB | CNOT4 | exon_skip_183914 | -4.733604e-01 | 2.821377e-08 |
| CB | PCBP4 | exon_skip_183914 | 5.059401e-01 | 2.046194e-09 |
| CB | TRA2A | exon_skip_183914 | -4.389028e-01 | 3.412889e-07 |
| CB | NUP42 | exon_skip_183914 | 4.329668e-01 | 5.103642e-07 |
| CB | RBM6 | exon_skip_24024 | -4.418431e-01 | 8.107414e-08 |
| CB | SAMD4A | exon_skip_24024 | -4.958481e-01 | 9.656743e-10 |
| CB | CNOT4 | exon_skip_24024 | -4.176720e-01 | 4.652746e-07 |
| CB | NUP42 | exon_skip_24024 | 5.074280e-01 | 3.364806e-10 |
| HCC | MSI1 | exon_skip_24024 | -4.063730e-01 | 1.936707e-11 |
| HCC | SAMD4A | exon_skip_24024 | -4.648079e-01 | 6.539050e-15 |
| TC | FUS | exon_skip_24024 | 4.455245e-01 | 9.693648e-08 |
| TC | SRSF5 | exon_skip_24024 | 4.338193e-01 | 2.263043e-07 |
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RelatedDrugs for KDM6A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KDM6A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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