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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 EPHX2 |
 Gene summary |
| Gene information | Gene symbol | EPHX2 | Gene ID | 2053 |
| Gene name | epoxide hydrolase 2 | |
| Synonyms | ABHD20|CEH|SEH | |
| Cytomap | 8p21.2-p21.1 | |
| Type of gene | protein-coding | |
| Description | bifunctional epoxide hydrolase 2epoxide hydrataseepoxide hydrolase 2, cytoplasmicepoxide hydrolase 2, cytosolicepoxide hydrolase, soluble | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context | - 28973302(Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EPHX2 | GO:0010628 | positive regulation of gene expression | 18974052 |
| EPHX2 | GO:0016311 | dephosphorylation | 12574508 |
| EPHX2 | GO:0042632 | cholesterol homeostasis | 18974052 |
| EPHX2 | GO:0046272 | stilbene catabolic process | 8342951 |
| EPHX2 | GO:0046839 | phospholipid dephosphorylation | 12574510 |
| EPHX2 | GO:0097176 | epoxide metabolic process | 22798687 |
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Gene structures and expression levels for EPHX2 |
| 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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ENSG00000120915
| 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 | DOWN | ENST00000517536.5 | EPHX2-202:protein_coding:EPHX2 | 1.295035e+02 | -1.223764e+00 | 8.154076e-11 | 5.320037e-09 |
| 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 EPHX2 |
| 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_104146 | chr8 | 27511836:27511910:27515718:27515813:27516320:27516398 | 27515718:27515813 |
| exon_skip_107219 | chr8 | 27505047:27505146:27506872:27506994:27511836:27511910 | 27506872:27506994 |
| exon_skip_124192 | chr8 | 27491210:27491309:27500964:27501010:27503604:27503759 | 27500964:27501010 |
| exon_skip_141533 | chr8 | 27536784:27536855:27538659:27538692:27540554:27540656 | 27538659:27538692 |
| exon_skip_142868 | chr8 | 27520883:27520909:27522423:27522508:27525362:27525473 | 27522423:27522508 |
| exon_skip_146982 | chr8 | 27515718:27515813:27516320:27516398:27518038:27518072 | 27516320:27516398 |
| exon_skip_253070 | chr8 | 27511836:27511910:27516320:27516398:27518038:27518072 | 27516320:27516398 |
| exon_skip_290018 | chr8 | 27491166:27491309:27500964:27501010:27503604:27503759 | 27500964:27501010 |
| exon_skip_31684 | chr8 | 27491210:27491309:27500926:27501010:27503604:27503759 | 27500926:27501010 |
| exon_skip_52532 | chr8 | 27504956:27505146:27506872:27506994:27511836:27511910 | 27506872:27506994 |
| exon_skip_65337 | chr8 | 27522423:27522508:27525362:27525473:27536784:27536855 | 27525362:27525473 |
| 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 EPHX2 |
| 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 |
| ENST00000521400 | 27500926 | 27501010 | Frame-shift |
| ENST00000521400 | 27516320 | 27516398 | Frame-shift |
| ENST00000521400 | 27525362 | 27525473 | Frame-shift |
| ENST00000521400 | 27538659 | 27538692 | Frame-shift |
| ENST00000521400 | 27506872 | 27506994 | In-frame |
| ENST00000521400 | 27515718 | 27515813 | 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 |
| ENST00000521400 | 27516320 | 27516398 | Frame-shift |
| ENST00000521400 | 27538659 | 27538692 | Frame-shift |
| 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 |
| ENST00000521400 | 27500926 | 27501010 | Frame-shift |
| ENST00000521400 | 27516320 | 27516398 | Frame-shift |
| ENST00000521400 | 27522423 | 27522508 | Frame-shift |
| ENST00000521400 | 27525362 | 27525473 | Frame-shift |
| ENST00000521400 | 27538659 | 27538692 | Frame-shift |
| ENST00000521400 | 27506872 | 27506994 | In-frame |
| ENST00000521400 | 27515718 | 27515813 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPHX2 |
p-ENSG00000120915_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 |
| ENST00000521400 | 3157 | 555 | 27506872 | 27506994 | 969 | 1090 | 179 | 220 |
| ENST00000521400 | 3157 | 555 | 27515718 | 27515813 | 1167 | 1261 | 245 | 277 |
| 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 |
| ENST00000521400 | 3157 | 555 | 27506872 | 27506994 | 969 | 1090 | 179 | 220 |
| ENST00000521400 | 3157 | 555 | 27515718 | 27515813 | 1167 | 1261 | 245 | 277 |
| 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 |
| P34913 | 179 | 220 | 180 | 185 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 199 | 202 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 1 | 555 | Chain | ID=PRO_0000084111;Note=Bifunctional epoxide hydrolase 2 |
| P34913 | 179 | 220 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 187 | 195 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 206 | 217 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 185 | 185 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15096040;Dbxref=PMID:15096040 |
| P34913 | 179 | 220 | 191 | 191 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P34914 |
| P34913 | 179 | 220 | 215 | 215 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P34914 |
| P34913 | 179 | 220 | 1 | 224 | Region | Note=Phosphatase |
| P34913 | 245 | 277 | 237 | 245 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 248 | 255 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 257 | 264 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 1 | 555 | Chain | ID=PRO_0000084111;Note=Bifunctional epoxide hydrolase 2 |
| P34913 | 245 | 277 | 259 | 531 | Domain | Note=AB hydrolase-1;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P34913 | 245 | 277 | 271 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 235 | 555 | Region | Note=Epoxide hydrolase |
| P34913 | 245 | 277 | 257 | 258 | Sequence conflict | Note=SG->W;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P34913 | 245 | 277 | 275 | 277 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| 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 |
| P34913 | 179 | 220 | 180 | 185 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 199 | 202 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 1 | 555 | Chain | ID=PRO_0000084111;Note=Bifunctional epoxide hydrolase 2 |
| P34913 | 179 | 220 | 177 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 187 | 195 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 206 | 217 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MWA |
| P34913 | 179 | 220 | 185 | 185 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15096040;Dbxref=PMID:15096040 |
| P34913 | 179 | 220 | 191 | 191 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P34914 |
| P34913 | 179 | 220 | 215 | 215 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P34914 |
| P34913 | 179 | 220 | 1 | 224 | Region | Note=Phosphatase |
| P34913 | 245 | 277 | 237 | 245 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 248 | 255 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 257 | 264 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 1 | 555 | Chain | ID=PRO_0000084111;Note=Bifunctional epoxide hydrolase 2 |
| P34913 | 245 | 277 | 259 | 531 | Domain | Note=AB hydrolase-1;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P34913 | 245 | 277 | 271 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
| P34913 | 245 | 277 | 235 | 555 | Region | Note=Epoxide hydrolase |
| P34913 | 245 | 277 | 257 | 258 | Sequence conflict | Note=SG->W;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P34913 | 245 | 277 | 275 | 277 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AM2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EPHX2 |
| 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 EPHX2 |
| - 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 EPHX2 |
| 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 EPHX2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_141533 | rs4149244 | chr8:27519645 | 2.212668e-04 | 3.235137e-02 |
| CB | exon_skip_141533 | rs4149253 | chr8:27538691 | 2.212668e-04 | 3.235137e-02 |
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Correlation with RNA binding proteins (RBPs) for EPHX2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_146982 | -4.056656e-01 | 1.358586e-07 |
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RelatedDrugs for EPHX2 |
| 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 EPHX2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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