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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 KAT6A |
 Gene summary |
| Gene information | Gene symbol | KAT6A | Gene ID | 7994 |
| Gene name | lysine acetyltransferase 6A | |
| Synonyms | ARTHS|MOZ|MRD32|MYST-3|MYST3|RUNXBP2|ZC2HC6A|ZNF220 | |
| Cytomap | 8p11.21 | |
| Type of gene | protein-coding | |
| Description | histone acetyltransferase KAT6AK(lysine) acetyltransferase 6AMOZ, YBF2/SAS3, SAS2 and TIP60 protein 3MYST histone acetyltransferase (monocytic leukemia) 3histone acetyltransferase MYST3monocytic leukemia zinc finger proteinrunt-related transcription | |
| Modification date | 20200313 | |
| UniProtAcc | A0A3B3IS53, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| KAT6A | GO:0006473 | protein acetylation | 23431171 |
| KAT6A | GO:0016573 | histone acetylation | 11742995|17925393 |
| KAT6A | GO:0030099 | myeloid cell differentiation | 11742995 |
| KAT6A | GO:0043966 | histone H3 acetylation | 16387653 |
| KAT6A | GO:0045892 | negative regulation of transcription, DNA-templated | 11742995 |
| KAT6A | GO:0045893 | positive regulation of transcription, DNA-templated | 11742995|11965546|18794358 |
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Gene structures and expression levels for KAT6A |
| 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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ENSG00000083168
| 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 |
| STG | UP | ENST00000396930.4 | KAT6A-202:protein_coding:KAT6A | 2.249839e+01 | 2.371539e+01 | 4.330858e-57 | 1.183551e-52 |
| CB | UP | ENST00000647746.1 | KAT6A-209:protein_coding:KAT6A | 2.900258e+00 | 8.849055e-01 | 2.559395e-05 | 2.332070e-04 |
| CB | UP | ENST00000649827.1 | KAT6A-215:nonsense_mediated_decay:KAT6A | 1.475041e+01 | 1.292019e+00 | 5.555585e-04 | 3.151226e-03 |
| TC | UP | ENST00000649827.1 | KAT6A-215:nonsense_mediated_decay:KAT6A | 3.392366e+00 | 1.404949e+00 | 5.167554e-03 | 3.437414e-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 KAT6A |
| 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_116916 | chr8 | 42049284:42049302:42049620:42049707:42051901:42051984 | 42049620:42049707 |
| exon_skip_202088 | chr8 | 41949222:41949363:41955296:41955411:41974704:41974734 | 41955296:41955411 |
| exon_skip_218689 | chr8 | 42049284:42049302:42049576:42049707:42051901:42051984 | 42049576:42049707 |
| exon_skip_231934 | chr8 | 42049170:42049302:42049576:42049707:42051901:42051984 | 42049576:42049707 |
| exon_skip_24359 | chr8 | 42049170:42049302:42049620:42049707:42051901:42051984 | 42049620:42049707 |
| exon_skip_261054 | chr8 | 41940842:41941444:41942793:41943000:41943748:41943979 | 41942793:41943000 |
| exon_skip_292161 | chr8 | 42048378:42049302:42049576:42049707:42051901:42051984 | 42049576:42049707 |
| exon_skip_56056 | chr8 | 41955296:41955411:41957049:41957180:41974704:41974734 | 41957049:41957180 |
| exon_skip_70811 | chr8 | 42048378:42049302:42049620:42049707:42051901:42051984 | 42049620:42049707 |
| 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 KAT6A |
| 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 |
| ENST00000396930 | 42049576 | 42049707 | 3UTR-3UTR |
| ENST00000265713 | 41942793 | 41943000 | Frame-shift |
| ENST00000396930 | 41942793 | 41943000 | Frame-shift |
| 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 |
| ENST00000396930 | 42049576 | 42049707 | 3UTR-3UTR |
| 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 |
| ENST00000396930 | 42049576 | 42049707 | 3UTR-3UTR |
| ENST00000265713 | 41942793 | 41943000 | Frame-shift |
| ENST00000396930 | 41942793 | 41943000 | Frame-shift |
| ENST00000265713 | 41955296 | 41955411 | Frame-shift |
| ENST00000396930 | 41955296 | 41955411 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for KAT6A |
p-ENSG00000083168_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in KAT6A |
| 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 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-488-5p | chr8:42049685-42049692 | 8mer-1a | chr8:42049672-42049692 | 144.00 | -10.48 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-2110 | chr8:42049653-42049660 | 8mer-1a | chr8:42049652-42049678 | 158.00 | -24.30 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-3616-5p | chr8:42049673-42049680 | 8mer-1a | chr8:42049657-42049680 | 151.00 | -13.71 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-573 | chr8:42049673-42049680 | 8mer-1a | chr8:42049657-42049680 | 151.00 | -13.71 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-6830-5p | chr8:42049640-42049647 | 8mer-1a | chr8:42049638-42049659 | 155.00 | -31.19 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-4463 | chr8:42049619-42049626 | 8mer-1a | chr8:42049616-42049640 | 151.00 | -21.65 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-653-5p | chr8:42049676-42049683 | 8mer-1a | chr8:42049672-42049692 | 144.00 | -10.48 |
| Mayo | ENST00000396930 | 42049576 | 42049707 | hsa-miR-4468 | chr8:42049611-42049618 | 8mer-1a | chr8:42049606-42049623 | 152.00 | -19.41 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-488-5p | chr8:42049685-42049692 | 8mer-1a | chr8:42049672-42049692 | 144.00 | -10.48 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-2110 | chr8:42049653-42049660 | 8mer-1a | chr8:42049652-42049678 | 158.00 | -24.30 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-3616-5p | chr8:42049673-42049680 | 8mer-1a | chr8:42049657-42049680 | 151.00 | -13.71 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-573 | chr8:42049673-42049680 | 8mer-1a | chr8:42049657-42049680 | 151.00 | -13.71 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-6830-5p | chr8:42049640-42049647 | 8mer-1a | chr8:42049638-42049659 | 155.00 | -31.19 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-4463 | chr8:42049619-42049626 | 8mer-1a | chr8:42049616-42049640 | 151.00 | -21.65 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-653-5p | chr8:42049676-42049683 | 8mer-1a | chr8:42049672-42049692 | 144.00 | -10.48 |
| MSBB | ENST00000396930 | 42049576 | 42049707 | hsa-miR-4468 | chr8:42049611-42049618 | 8mer-1a | chr8:42049606-42049623 | 152.00 | -19.41 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-488-5p | chr8:42049685-42049692 | 8mer-1a | chr8:42049672-42049692 | 144.00 | -10.48 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-2110 | chr8:42049653-42049660 | 8mer-1a | chr8:42049652-42049678 | 158.00 | -24.30 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-3616-5p | chr8:42049673-42049680 | 8mer-1a | chr8:42049657-42049680 | 151.00 | -13.71 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-573 | chr8:42049673-42049680 | 8mer-1a | chr8:42049657-42049680 | 151.00 | -13.71 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-6830-5p | chr8:42049640-42049647 | 8mer-1a | chr8:42049638-42049659 | 155.00 | -31.19 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-4463 | chr8:42049619-42049626 | 8mer-1a | chr8:42049616-42049640 | 151.00 | -21.65 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-653-5p | chr8:42049676-42049683 | 8mer-1a | chr8:42049672-42049692 | 144.00 | -10.48 |
| ROSMAP | ENST00000396930 | 42049576 | 42049707 | hsa-miR-4468 | chr8:42049611-42049618 | 8mer-1a | chr8:42049606-42049623 | 152.00 | -19.41 |
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SNVs in the skipped exons for KAT6A |
| - 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 KAT6A |
| 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 KAT6A |
| 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 KAT6A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | RALYL | exon_skip_292161 | 5.423139e-01 | 2.870370e-03 |
| IFG | PTBP3 | exon_skip_70811 | -4.850035e-01 | 2.214727e-02 |
| PG | ILF2 | exon_skip_292161 | 4.268188e-01 | 9.789200e-09 |
| PG | HNRNPK | exon_skip_292161 | 4.340887e-01 | 5.131614e-09 |
| PG | ENOX1 | exon_skip_292161 | 4.286674e-01 | 8.318566e-09 |
| PG | NUP42 | exon_skip_292161 | 4.029530e-01 | 7.349289e-08 |
| PG | RALYL | exon_skip_292161 | 5.886847e-01 | 7.355362e-17 |
| STG | SRSF9 | exon_skip_292161 | 4.508209e-01 | 2.134906e-05 |
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RelatedDrugs for KAT6A |
| 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 KAT6A |
| 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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