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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for KAT7

check button Gene summary
Gene informationGene symbol

KAT7

Gene ID

11143

Gene namelysine acetyltransferase 7
SynonymsHBO1|HBOA|MYST2|ZC2HC7
Cytomap

17q21.33

Type of geneprotein-coding
Descriptionhistone acetyltransferase KAT7K(lysine) acetyltransferase 7MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2MYST histone acetyltransferase 2histone acetyltransferase MYST2histone acetyltransferase binding to ORC1
Modification date20200327
UniProtAcc

D6RFZ5,

E7EUP3,

O95251,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
KAT7

GO:0006260

DNA replication

16387653

KAT7

GO:0018393

internal peptidyl-lysine acetylation

26221039

KAT7

GO:0031098

stress-activated protein kinase signaling cascade

21856198

KAT7

GO:0043966

histone H3 acetylation

16387653

KAT7

GO:0043981

histone H4-K5 acetylation

16387653

KAT7

GO:0043982

histone H4-K8 acetylation

16387653

KAT7

GO:0043983

histone H4-K12 acetylation

16387653

KAT7

GO:0043984

histone H4-K16 acetylation

16387653

KAT7

GO:1900182

positive regulation of protein localization to nucleus

24739512


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Gene structures and expression levels for KAT7

check buttonSkipped 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.
all structure

ENSG00000136504
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KAT7

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_120759chr1749798319:49798558:49805363:49805445:49809119:4980920849805363:49805445
exon_skip_141606chr1749805363:49805445:49811476:49811574:49815803:4981589649811476:49811574
exon_skip_151334chr1749821685:49821790:49823202:49823295:49826000:4982614649823202:49823295
exon_skip_153076chr1749791938:49792033:49796750:49796926:49805363:4980544549796750:49796926
exon_skip_262482chr1749805363:49805445:49809119:49809208:49811476:4981157449809119:49809208
exon_skip_31788chr1749791886:49792033:49796750:49796926:49805363:4980544549796750:49796926
exon_skip_37403chr1749796750:49796926:49798319:49798558:49805363:4980544549798319:49798558
exon_skip_86451chr1749815803:49815913:49817820:49818011:49821337:4982142649817820:49818011

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for KAT7

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002590214982320249823295Frame-shift
ENST000002590214979831949798558In-frame
ENST000002590214980911949809208In-frame
ENST000002590214981782049818011In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002590214982320249823295Frame-shift
ENST000002590214980911949809208In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002590214980536349805445Frame-shift
ENST000002590214982320249823295Frame-shift
ENST000002590214979831949798558In-frame
ENST000002590214980911949809208In-frame
ENST000002590214981782049818011In-frame

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Infer the effects of exon skipping event on protein functional features for KAT7

p-ENSG00000136504_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000025902196616114979831949798558622860114193
ENST00000259021966161149809119498092089451033221251
ENST000002590219661611498178204981801112451435321385

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000259021966161149809119498092089451033221251

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000025902196616114979831949798558622860114193
ENST00000259021966161149809119498092089451033221251
ENST000002590219661611498178204981801112451435321385

check button 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 featureDescription of feature
O95251114193114193Alternative sequenceID=VSP_042553;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O952511141931611ChainID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251114193124124Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692
O95251114193128128Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5SVQ0
O95251114193158158Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
O95251114193162162Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
O95251114193164164Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
O95251114193178178Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O95251114193176219Zinc fingerNote=CCHHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01143
O95251221251222251Alternative sequenceID=VSP_042554;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O952512212511611ChainID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251321385339342Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385345348Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385362367Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385374376Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O952513213851611ChainID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251321385323323Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
O95251321385338338Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590
O95251321385332607DomainNote=MYST-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01063
O95251321385357360HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385378387HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385338338MutagenesisNote=Decreases ubiquitination. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590
O95251321385371371MutagenesisNote=No interaction with MCM2 and ORC1. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278932;Dbxref=PMID:11278932
O95251321385369371TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385365390Zinc fingerNote=C2HC MYST-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01063

check button 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 featureDescription of feature
O95251221251222251Alternative sequenceID=VSP_042554;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O952512212511611ChainID=PRO_0000051569;Note=Histone acetyltransferase KAT7

check button 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 featureDescription of feature
O95251114193114193Alternative sequenceID=VSP_042553;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O952511141931611ChainID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251114193124124Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692
O95251114193128128Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5SVQ0
O95251114193158158Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
O95251114193162162Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
O95251114193164164Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
O95251114193178178Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O95251114193176219Zinc fingerNote=CCHHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01143
O95251221251222251Alternative sequenceID=VSP_042554;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O952512212511611ChainID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251321385339342Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385345348Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385362367Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385374376Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O952513213851611ChainID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251321385323323Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
O95251321385338338Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590
O95251321385332607DomainNote=MYST-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01063
O95251321385357360HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385378387HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385338338MutagenesisNote=Decreases ubiquitination. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590
O95251321385371371MutagenesisNote=No interaction with MCM2 and ORC1. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278932;Dbxref=PMID:11278932
O95251321385369371TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9
O95251321385365390Zinc fingerNote=C2HC MYST-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01063


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3'-UTR located exon skipping events that lost miRNA binding sites in KAT7

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for KAT7

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for KAT7

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KAT7

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for KAT7

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
DLPFCSRSF11exon_skip_2624824.485761e-012.877897e-15
DLPFCMBNL1exon_skip_262482-4.096224e-019.377802e-13
HCCMSI1exon_skip_2624825.063092e-014.751920e-19
HCCSFPQexon_skip_2624824.576890e-011.947952e-15
IFGMSI1exon_skip_2624824.698709e-011.163903e-02
PCCMSI1exon_skip_2624824.175364e-015.194914e-10
PGMBNL1exon_skip_262482-4.016997e-011.739777e-08
TCENOX1exon_skip_262482-4.051572e-011.413174e-07

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RelatedDrugs for KAT7

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KAT7

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource