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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for KAT7 |
Gene summary |
Gene information | Gene symbol | KAT7 | Gene ID | 11143 |
Gene name | lysine acetyltransferase 7 | |
Synonyms | HBO1|HBOA|MYST2|ZC2HC7 | |
Cytomap | 17q21.33 | |
Type of gene | protein-coding | |
Description | histone acetyltransferase KAT7K(lysine) acetyltransferase 7MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2MYST histone acetyltransferase 2histone acetyltransferase MYST2histone acetyltransferase binding to ORC1 | |
Modification date | 20200327 | |
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 |
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 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
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 KAT7 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_120759 | chr17 | 49798319:49798558:49805363:49805445:49809119:49809208 | 49805363:49805445 |
exon_skip_141606 | chr17 | 49805363:49805445:49811476:49811574:49815803:49815896 | 49811476:49811574 |
exon_skip_151334 | chr17 | 49821685:49821790:49823202:49823295:49826000:49826146 | 49823202:49823295 |
exon_skip_153076 | chr17 | 49791938:49792033:49796750:49796926:49805363:49805445 | 49796750:49796926 |
exon_skip_262482 | chr17 | 49805363:49805445:49809119:49809208:49811476:49811574 | 49809119:49809208 |
exon_skip_31788 | chr17 | 49791886:49792033:49796750:49796926:49805363:49805445 | 49796750:49796926 |
exon_skip_37403 | chr17 | 49796750:49796926:49798319:49798558:49805363:49805445 | 49798319:49798558 |
exon_skip_86451 | chr17 | 49815803:49815913:49817820:49818011:49821337:49821426 | 49817820:49818011 |
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 KAT7 |
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 |
ENST00000259021 | 49823202 | 49823295 | Frame-shift |
ENST00000259021 | 49798319 | 49798558 | In-frame |
ENST00000259021 | 49809119 | 49809208 | In-frame |
ENST00000259021 | 49817820 | 49818011 | 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 |
ENST00000259021 | 49823202 | 49823295 | Frame-shift |
ENST00000259021 | 49809119 | 49809208 | 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 |
ENST00000259021 | 49805363 | 49805445 | Frame-shift |
ENST00000259021 | 49823202 | 49823295 | Frame-shift |
ENST00000259021 | 49798319 | 49798558 | In-frame |
ENST00000259021 | 49809119 | 49809208 | In-frame |
ENST00000259021 | 49817820 | 49818011 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KAT7 |
p-ENSG00000136504_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 |
ENST00000259021 | 9661 | 611 | 49798319 | 49798558 | 622 | 860 | 114 | 193 |
ENST00000259021 | 9661 | 611 | 49809119 | 49809208 | 945 | 1033 | 221 | 251 |
ENST00000259021 | 9661 | 611 | 49817820 | 49818011 | 1245 | 1435 | 321 | 385 |
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 |
ENST00000259021 | 9661 | 611 | 49809119 | 49809208 | 945 | 1033 | 221 | 251 |
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 |
ENST00000259021 | 9661 | 611 | 49798319 | 49798558 | 622 | 860 | 114 | 193 |
ENST00000259021 | 9661 | 611 | 49809119 | 49809208 | 945 | 1033 | 221 | 251 |
ENST00000259021 | 9661 | 611 | 49817820 | 49818011 | 1245 | 1435 | 321 | 385 |
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 |
O95251 | 114 | 193 | 114 | 193 | Alternative sequence | ID=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 |
O95251 | 114 | 193 | 1 | 611 | Chain | ID=PRO_0000051569;Note=Histone acetyltransferase KAT7 |
O95251 | 114 | 193 | 124 | 124 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
O95251 | 114 | 193 | 128 | 128 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5SVQ0 |
O95251 | 114 | 193 | 158 | 158 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
O95251 | 114 | 193 | 162 | 162 | Modified residue | Note=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 |
O95251 | 114 | 193 | 164 | 164 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
O95251 | 114 | 193 | 178 | 178 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
O95251 | 114 | 193 | 176 | 219 | Zinc finger | Note=CCHHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01143 |
O95251 | 221 | 251 | 222 | 251 | Alternative sequence | ID=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 |
O95251 | 221 | 251 | 1 | 611 | Chain | ID=PRO_0000051569;Note=Histone acetyltransferase KAT7 |
O95251 | 321 | 385 | 339 | 342 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 345 | 348 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 362 | 367 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 374 | 376 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 1 | 611 | Chain | ID=PRO_0000051569;Note=Histone acetyltransferase KAT7 |
O95251 | 321 | 385 | 323 | 323 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
O95251 | 321 | 385 | 338 | 338 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590 |
O95251 | 321 | 385 | 332 | 607 | Domain | Note=MYST-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01063 |
O95251 | 321 | 385 | 357 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 378 | 387 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 338 | 338 | Mutagenesis | Note=Decreases ubiquitination. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590 |
O95251 | 321 | 385 | 371 | 371 | Mutagenesis | Note=No interaction with MCM2 and ORC1. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278932;Dbxref=PMID:11278932 |
O95251 | 321 | 385 | 369 | 371 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 365 | 390 | Zinc finger | Note=C2HC MYST-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01063 |
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 |
O95251 | 221 | 251 | 222 | 251 | Alternative sequence | ID=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 |
O95251 | 221 | 251 | 1 | 611 | Chain | ID=PRO_0000051569;Note=Histone acetyltransferase KAT7 |
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 |
O95251 | 114 | 193 | 114 | 193 | Alternative sequence | ID=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 |
O95251 | 114 | 193 | 1 | 611 | Chain | ID=PRO_0000051569;Note=Histone acetyltransferase KAT7 |
O95251 | 114 | 193 | 124 | 124 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
O95251 | 114 | 193 | 128 | 128 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5SVQ0 |
O95251 | 114 | 193 | 158 | 158 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
O95251 | 114 | 193 | 162 | 162 | Modified residue | Note=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 |
O95251 | 114 | 193 | 164 | 164 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
O95251 | 114 | 193 | 178 | 178 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
O95251 | 114 | 193 | 176 | 219 | Zinc finger | Note=CCHHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01143 |
O95251 | 221 | 251 | 222 | 251 | Alternative sequence | ID=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 |
O95251 | 221 | 251 | 1 | 611 | Chain | ID=PRO_0000051569;Note=Histone acetyltransferase KAT7 |
O95251 | 321 | 385 | 339 | 342 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 345 | 348 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 362 | 367 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 374 | 376 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 1 | 611 | Chain | ID=PRO_0000051569;Note=Histone acetyltransferase KAT7 |
O95251 | 321 | 385 | 323 | 323 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
O95251 | 321 | 385 | 338 | 338 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590 |
O95251 | 321 | 385 | 332 | 607 | Domain | Note=MYST-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01063 |
O95251 | 321 | 385 | 357 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 378 | 387 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 338 | 338 | Mutagenesis | Note=Decreases ubiquitination. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23319590;Dbxref=PMID:23319590 |
O95251 | 321 | 385 | 371 | 371 | Mutagenesis | Note=No interaction with MCM2 and ORC1. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278932;Dbxref=PMID:11278932 |
O95251 | 321 | 385 | 369 | 371 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GK9 |
O95251 | 321 | 385 | 365 | 390 | Zinc finger | Note=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 |
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 KAT7 |
- 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 KAT7 |
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 KAT7 |
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 KAT7 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
DLPFC | SRSF11 | exon_skip_262482 | 4.485761e-01 | 2.877897e-15 |
DLPFC | MBNL1 | exon_skip_262482 | -4.096224e-01 | 9.377802e-13 |
HCC | MSI1 | exon_skip_262482 | 5.063092e-01 | 4.751920e-19 |
HCC | SFPQ | exon_skip_262482 | 4.576890e-01 | 1.947952e-15 |
IFG | MSI1 | exon_skip_262482 | 4.698709e-01 | 1.163903e-02 |
PCC | MSI1 | exon_skip_262482 | 4.175364e-01 | 5.194914e-10 |
PG | MBNL1 | exon_skip_262482 | -4.016997e-01 | 1.739777e-08 |
TC | ENOX1 | exon_skip_262482 | -4.051572e-01 | 1.413174e-07 |
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RelatedDrugs for KAT7 |
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 KAT7 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |