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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 EPAS1 |
 Gene summary |
| Gene information | Gene symbol | EPAS1 | Gene ID | 2034 |
| Gene name | endothelial PAS domain protein 1 | |
| Synonyms | ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | endothelial PAS domain-containing protein 1EPAS-1HIF-1-alpha-like factorHIF-1alpha-like factorHIF-2-alphaHIF2-alphaPAS domain-containing protein 2basic-helix-loop-helix-PAS protein MOP2class E basic helix-loop-helix protein 73hypoxia-inducible fa | |
| 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 |
| EPAS1 | GO:0001666 | response to hypoxia | 11782478 |
| EPAS1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
| EPAS1 | GO:0071456 | cellular response to hypoxia | 11573933 |
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Gene structures and expression levels for EPAS1 |
| 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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ENSG00000116016
| 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 |
| PCC | UP | ENST00000466465.5 | EPAS1-206:retained_intron:EPAS1 | 5.543293e+02 | 1.372176e+00 | 8.443378e-04 | 2.293939e-02 |
| PG | UP | ENST00000466465.5 | EPAS1-206:retained_intron:EPAS1 | 1.138302e+02 | 8.417419e-01 | 1.261281e-03 | 1.724080e-02 |
| CB | DOWN | ENST00000466465.5 | EPAS1-206:retained_intron:EPAS1 | 5.637798e+02 | -1.308558e+00 | 7.533863e-08 | 1.671380e-06 |
| TC | DOWN | ENST00000466465.5 | EPAS1-206:retained_intron:EPAS1 | 6.371836e+02 | -1.938139e+00 | 1.015702e-14 | 7.020902e-12 |
| TC | UP | ENST00000463191.1 | EPAS1-204:retained_intron:EPAS1 | 1.362186e+00 | 2.492785e+00 | 2.917040e-04 | 3.759546e-03 |
| TC | UP | ENST00000468530.1 | EPAS1-208:lncRNA:EPAS1 | 5.352368e+00 | 8.502692e-01 | 7.571945e-04 | 7.976462e-03 |
| TC | UP | ENST00000449347.5 | EPAS1-202:protein_coding:EPAS1 | 2.754688e+00 | 1.141140e+00 | 7.361239e-03 | 4.467546e-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 EPAS1 |
| 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_251556 | chr2 | 46381975:46382089:46382425:46382598:46384509:46386696 | 46382425:46382598 |
| exon_skip_61752 | chr2 | 46360885:46361090:46369827:46369933:46375690:46375837 | 46369827:46369933 |
| 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 EPAS1 |
| 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 |
| ENST00000263734 | 46369827 | 46369933 | Frame-shift |
| ENST00000263734 | 46382425 | 46382598 | 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 |
| 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 |
| ENST00000263734 | 46382425 | 46382598 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPAS1 |
p-ENSG00000116016_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 |
| ENST00000263734 | 5183 | 870 | 46382425 | 46382598 | 2799 | 2971 | 763 | 820 |
| 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 |
| ENST00000263734 | 5183 | 870 | 46382425 | 46382598 | 2799 | 2971 | 763 | 820 |
| 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 |
| Q99814 | 763 | 820 | 1 | 870 | Chain | ID=PRO_0000127419;Note=Endothelial PAS domain-containing protein 1 |
| Q99814 | 763 | 820 | 766 | 766 | Natural variant | ID=VAR_061261;Note=T->P;Dbxref=dbSNP:rs59901247 |
| Q99814 | 763 | 820 | 785 | 785 | Natural variant | ID=VAR_061262;Note=P->T;Dbxref=dbSNP:rs61518065 |
| Q99814 | 763 | 820 | 765 | 765 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99814 | 763 | 820 | 769 | 769 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q99814 | 763 | 820 | 1 | 870 | Chain | ID=PRO_0000127419;Note=Endothelial PAS domain-containing protein 1 |
| Q99814 | 763 | 820 | 766 | 766 | Natural variant | ID=VAR_061261;Note=T->P;Dbxref=dbSNP:rs59901247 |
| Q99814 | 763 | 820 | 785 | 785 | Natural variant | ID=VAR_061262;Note=P->T;Dbxref=dbSNP:rs61518065 |
| Q99814 | 763 | 820 | 765 | 765 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99814 | 763 | 820 | 769 | 769 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EPAS1 |
| 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 EPAS1 |
| - 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 EPAS1 |
| 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 EPAS1 |
| 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 EPAS1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for EPAS1 |
| 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 EPAS1 |
| 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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