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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 EP300 |
 Gene summary |
| Gene information | Gene symbol | EP300 | Gene ID | 2033 |
| Gene name | E1A binding protein p300 | |
| Synonyms | KAT3B|MKHK2|RSTS2|p300 | |
| Cytomap | 22q13.2 | |
| Type of gene | protein-coding | |
| Description | histone acetyltransferase p300E1A-associated protein p300E1A-binding protein, 300kDhistone butyryltransferase p300histone crotonyltransferase p300p300 HATprotein 2-hydroxyisobutyryltransferase p300protein propionyltransferase p300 | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context | - 22186421(Increased EID1 nuclear translocation impairs synaptic plasticity and memory function associated with pathogenesis of Alzheimer's disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EP300 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10733570 |
| EP300 | GO:0001666 | response to hypoxia | 9887100|15261140 |
| EP300 | GO:0006110 | regulation of glycolytic process | 29775581 |
| EP300 | GO:0006355 | regulation of transcription, DNA-templated | 15261140 |
| EP300 | GO:0006473 | protein acetylation | 21030595|24939902 |
| EP300 | GO:0006475 | internal protein amino acid acetylation | 18722353 |
| EP300 | GO:0010742 | macrophage derived foam cell differentiation | 26504087 |
| EP300 | GO:0010976 | positive regulation of neuron projection development | 27256286 |
| EP300 | GO:0016573 | histone acetylation | 25818647|27256286 |
| EP300 | GO:0018076 | N-terminal peptidyl-lysine acetylation | 12435739 |
| EP300 | GO:0018393 | internal peptidyl-lysine acetylation | 17403783 |
| EP300 | GO:0018394 | peptidyl-lysine acetylation | 23811396|23962722 |
| EP300 | GO:0031333 | negative regulation of protein complex assembly | 23962722 |
| EP300 | GO:0034644 | cellular response to UV | 24939902 |
| EP300 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17403783 |
| EP300 | GO:0043627 | response to estrogen | 11581164 |
| EP300 | GO:0043923 | positive regulation by host of viral transcription | 16687403 |
| EP300 | GO:0043969 | histone H2B acetylation | 23415232 |
| EP300 | GO:0045721 | negative regulation of gluconeogenesis | 30193097 |
| EP300 | GO:0045815 | positive regulation of gene expression, epigenetic | 25818647 |
| EP300 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12586840|18722353|23811396 |
| EP300 | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 10518217|25818647 |
| EP300 | GO:0060765 | regulation of androgen receptor signaling pathway | 18487222 |
| EP300 | GO:0061921 | peptidyl-lysine propionylation | 17267393 |
| EP300 | GO:0090043 | regulation of tubulin deacetylation | 18722353 |
| EP300 | GO:0140066 | peptidyl-lysine crotonylation | 25818647 |
| EP300 | GO:0140067 | peptidyl-lysine butyrylation | 17267393|29775581 |
| EP300 | GO:1901224 | positive regulation of NIK/NF-kappaB signaling | 23811396 |
| EP300 | GO:1905636 | positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 23811396 |
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Gene structures and expression levels for EP300 |
| 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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ENSG00000100393
| 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 | ENST00000634728.1 | EP300-204:protein_coding:EP300 | 1.397284e+01 | 1.159662e+00 | 4.382219e-09 | 1.505474e-07 |
| CB | UP | ENST00000634690.1 | EP300-203:protein_coding:EP300 | 9.222532e-01 | 1.464731e+00 | 8.746144e-04 | 4.613511e-03 |
| TC | UP | ENST00000634728.1 | EP300-204:protein_coding:EP300 | 2.656700e+00 | 8.517361e-01 | 2.220624e-04 | 3.033670e-03 |
| 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 EP300 |
| 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_133028 | chr22 | 41129890:41130003:41131388:41131633:41135813:41135906 | 41131388:41131633 |
| exon_skip_14095 | chr22 | 41141048:41141222:41146739:41146816:41147837:41147890 | 41146739:41146816 |
| exon_skip_214362 | chr22 | 41137653:41137790:41140140:41140257:41141048:41141222 | 41140140:41140257 |
| exon_skip_234302 | chr22 | 41141070:41141222:41146739:41146816:41147837:41147890 | 41146739:41146816 |
| exon_skip_236764 | chr22 | 41135813:41135906:41137653:41137790:41140140:41140257 | 41137653:41137790 |
| exon_skip_259296 | chr22 | 41140140:41140257:41141048:41141222:41146739:41146809 | 41141048:41141222 |
| exon_skip_42594 | chr22 | 41131533:41131633:41135813:41135906:41137653:41137790 | 41135813:41135906 |
| 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 EP300 |
| 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 |
| ENST00000263253 | 41135813 | 41135906 | Frame-shift |
| ENST00000263253 | 41141048 | 41141222 | Frame-shift |
| ENST00000263253 | 41131388 | 41131633 | In-frame |
| ENST00000263253 | 41137653 | 41137790 | In-frame |
| ENST00000263253 | 41146739 | 41146816 | 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 |
| ENST00000263253 | 41140140 | 41140257 | Frame-shift |
| ENST00000263253 | 41131388 | 41131633 | In-frame |
| ENST00000263253 | 41137653 | 41137790 | In-frame |
| ENST00000263253 | 41146739 | 41146816 | 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 |
| ENST00000263253 | 41135813 | 41135906 | Frame-shift |
| ENST00000263253 | 41140140 | 41140257 | Frame-shift |
| ENST00000263253 | 41141048 | 41141222 | Frame-shift |
| ENST00000263253 | 41131388 | 41131633 | In-frame |
| ENST00000263253 | 41137653 | 41137790 | In-frame |
| ENST00000263253 | 41146739 | 41146816 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EP300 |
p-ENSG00000100393_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 |
| ENST00000263253 | 9604 | 2414 | 41131388 | 41131633 | 2503 | 2747 | 428 | 509 |
| ENST00000263253 | 9604 | 2414 | 41137653 | 41137790 | 2843 | 2979 | 541 | 586 |
| ENST00000263253 | 9604 | 2414 | 41146739 | 41146816 | 3274 | 3350 | 685 | 710 |
| 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 |
| ENST00000263253 | 9604 | 2414 | 41131388 | 41131633 | 2503 | 2747 | 428 | 509 |
| ENST00000263253 | 9604 | 2414 | 41137653 | 41137790 | 2843 | 2979 | 541 | 586 |
| ENST00000263253 | 9604 | 2414 | 41146739 | 41146816 | 3274 | 3350 | 685 | 710 |
| 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 |
| ENST00000263253 | 9604 | 2414 | 41131388 | 41131633 | 2503 | 2747 | 428 | 509 |
| ENST00000263253 | 9604 | 2414 | 41137653 | 41137790 | 2843 | 2979 | 541 | 586 |
| ENST00000263253 | 9604 | 2414 | 41146739 | 41146816 | 3274 | 3350 | 685 | 710 |
| 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 |
| Q09472 | 428 | 509 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| Q09472 | 428 | 509 | 499 | 499 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B2RWS6 |
| Q09472 | 541 | 586 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| Q09472 | 541 | 586 | 566 | 645 | Domain | Note=KIX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00311 |
| Q09472 | 541 | 586 | 580 | 580 | Modified residue | Note=Omega-N-methylated arginine%3B by CARM1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11701890;Dbxref=PMID:11701890 |
| Q09472 | 685 | 710 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| 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 |
| Q09472 | 428 | 509 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| Q09472 | 428 | 509 | 499 | 499 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B2RWS6 |
| Q09472 | 541 | 586 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| Q09472 | 541 | 586 | 566 | 645 | Domain | Note=KIX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00311 |
| Q09472 | 541 | 586 | 580 | 580 | Modified residue | Note=Omega-N-methylated arginine%3B by CARM1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11701890;Dbxref=PMID:11701890 |
| Q09472 | 685 | 710 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| 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 |
| Q09472 | 428 | 509 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| Q09472 | 428 | 509 | 499 | 499 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B2RWS6 |
| Q09472 | 541 | 586 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
| Q09472 | 541 | 586 | 566 | 645 | Domain | Note=KIX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00311 |
| Q09472 | 541 | 586 | 580 | 580 | Modified residue | Note=Omega-N-methylated arginine%3B by CARM1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11701890;Dbxref=PMID:11701890 |
| Q09472 | 685 | 710 | 2 | 2414 | Chain | ID=PRO_0000211193;Note=Histone acetyltransferase p300 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EP300 |
| 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 EP300 |
| - 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 EP300 |
| 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 EP300 |
| 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 EP300 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_234302 | 4.479629e-01 | 5.696658e-09 |
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RelatedDrugs for EP300 |
| 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 EP300 |
| 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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