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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 EPS8 |
 Gene summary |
| Gene information | Gene symbol | EPS8 | Gene ID | 2059 |
| Gene name | epidermal growth factor receptor pathway substrate 8 | |
| Synonyms | DFNB102 | |
| Cytomap | 12p12.3 | |
| Type of gene | protein-coding | |
| Description | epidermal growth factor receptor kinase substrate 8 | |
| 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 |
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Gene structures and expression levels for EPS8 |
| 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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ENSG00000151491
| 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 |
| STG | UP | ENST00000508018.2 | EPS8-202:retained_intron:EPS8 | 6.738136e+00 | 9.300707e-01 | 1.094775e-03 | 4.040518e-02 |
| PG | UP | ENST00000543468.5 | EPS8-211:nonsense_mediated_decay:EPS8 | 3.140563e+01 | 4.046492e+00 | 8.961048e-04 | 1.346212e-02 |
| CB | UP | ENST00000540613.5 | EPS8-207:protein_coding:EPS8 | 9.777621e+00 | 1.105102e+00 | 9.322433e-05 | 6.978947e-04 |
| CB | UP | ENST00000536956.5 | EPS8-206:nonsense_mediated_decay:EPS8 | 2.293954e+00 | 8.534638e-01 | 1.029020e-03 | 5.290413e-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 EPS8 |
| 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_111934 | chr12 | 15662026:15662099:15665756:15665892:15666440:15666522 | 15665756:15665892 |
| exon_skip_151172 | chr12 | 15670856:15670923:15681226:15681302:15682893:15682972 | 15681226:15681302 |
| exon_skip_176380 | chr12 | 15662026:15662099:15665023:15665106:15665756:15665892 | 15665023:15665106 |
| exon_skip_181894 | chr12 | 15631442:15631664:15634739:15634762:15640703:15640846 | 15634739:15634762 |
| exon_skip_49478 | chr12 | 15682893:15682972:15713266:15713325:15789161:15789370 | 15713266:15713325 |
| exon_skip_68795 | chr12 | 15654145:15654293:15658079:15658153:15658497:15658585 | 15658079:15658153 |
| exon_skip_9394 | chr12 | 15662026:15662099:15665756:15665892:15666440:15666505 | 15665756:15665892 |
| 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 EPS8 |
| 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 |
| ENST00000645775 | 15713266 | 15713325 | 3UTR-3UTR |
| ENST00000281172 | 15665756 | 15665892 | Frame-shift |
| ENST00000543523 | 15665756 | 15665892 | Frame-shift |
| ENST00000543612 | 15665756 | 15665892 | Frame-shift |
| ENST00000642278 | 15665756 | 15665892 | Frame-shift |
| ENST00000644374 | 15665756 | 15665892 | Frame-shift |
| ENST00000645775 | 15665756 | 15665892 | Frame-shift |
| ENST00000646828 | 15665756 | 15665892 | Frame-shift |
| ENST00000646918 | 15665756 | 15665892 | Frame-shift |
| ENST00000647087 | 15665756 | 15665892 | Frame-shift |
| ENST00000647224 | 15665756 | 15665892 | Frame-shift |
| ENST00000281172 | 15681226 | 15681302 | Frame-shift |
| ENST00000543523 | 15681226 | 15681302 | Frame-shift |
| ENST00000543612 | 15681226 | 15681302 | Frame-shift |
| ENST00000642278 | 15681226 | 15681302 | Frame-shift |
| ENST00000644374 | 15681226 | 15681302 | Frame-shift |
| ENST00000645775 | 15681226 | 15681302 | Frame-shift |
| ENST00000646828 | 15681226 | 15681302 | Frame-shift |
| ENST00000646918 | 15681226 | 15681302 | Frame-shift |
| ENST00000647087 | 15681226 | 15681302 | Frame-shift |
| ENST00000647224 | 15681226 | 15681302 | Frame-shift |
| ENST00000281172 | 15658079 | 15658153 | In-frame |
| ENST00000543523 | 15658079 | 15658153 | In-frame |
| ENST00000543612 | 15658079 | 15658153 | In-frame |
| ENST00000642278 | 15658079 | 15658153 | In-frame |
| ENST00000644374 | 15658079 | 15658153 | In-frame |
| ENST00000645775 | 15658079 | 15658153 | In-frame |
| ENST00000646828 | 15658079 | 15658153 | In-frame |
| ENST00000646918 | 15658079 | 15658153 | In-frame |
| ENST00000647087 | 15658079 | 15658153 | In-frame |
| ENST00000647224 | 15658079 | 15658153 | 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 |
| ENST00000645775 | 15713266 | 15713325 | 3UTR-3UTR |
| ENST00000281172 | 15681226 | 15681302 | Frame-shift |
| ENST00000543523 | 15681226 | 15681302 | Frame-shift |
| ENST00000543612 | 15681226 | 15681302 | Frame-shift |
| ENST00000642278 | 15681226 | 15681302 | Frame-shift |
| ENST00000644374 | 15681226 | 15681302 | Frame-shift |
| ENST00000645775 | 15681226 | 15681302 | Frame-shift |
| ENST00000646828 | 15681226 | 15681302 | Frame-shift |
| ENST00000646918 | 15681226 | 15681302 | Frame-shift |
| ENST00000647087 | 15681226 | 15681302 | Frame-shift |
| ENST00000647224 | 15681226 | 15681302 | 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 |
| ENST00000645775 | 15713266 | 15713325 | 3UTR-3UTR |
| ENST00000281172 | 15665756 | 15665892 | Frame-shift |
| ENST00000543523 | 15665756 | 15665892 | Frame-shift |
| ENST00000543612 | 15665756 | 15665892 | Frame-shift |
| ENST00000642278 | 15665756 | 15665892 | Frame-shift |
| ENST00000644374 | 15665756 | 15665892 | Frame-shift |
| ENST00000645775 | 15665756 | 15665892 | Frame-shift |
| ENST00000646828 | 15665756 | 15665892 | Frame-shift |
| ENST00000646918 | 15665756 | 15665892 | Frame-shift |
| ENST00000647087 | 15665756 | 15665892 | Frame-shift |
| ENST00000647224 | 15665756 | 15665892 | Frame-shift |
| ENST00000281172 | 15681226 | 15681302 | Frame-shift |
| ENST00000543523 | 15681226 | 15681302 | Frame-shift |
| ENST00000543612 | 15681226 | 15681302 | Frame-shift |
| ENST00000642278 | 15681226 | 15681302 | Frame-shift |
| ENST00000644374 | 15681226 | 15681302 | Frame-shift |
| ENST00000645775 | 15681226 | 15681302 | Frame-shift |
| ENST00000646828 | 15681226 | 15681302 | Frame-shift |
| ENST00000646918 | 15681226 | 15681302 | Frame-shift |
| ENST00000647087 | 15681226 | 15681302 | Frame-shift |
| ENST00000647224 | 15681226 | 15681302 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EPS8 |
p-ENSG00000151491_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 |
| ENST00000281172 | 4078 | 822 | 15658079 | 15658153 | 1464 | 1537 | 342 | 366 |
| ENST00000543523 | 3942 | 822 | 15658079 | 15658153 | 1324 | 1397 | 342 | 366 |
| ENST00000543612 | 2982 | 822 | 15658079 | 15658153 | 1189 | 1262 | 342 | 366 |
| ENST00000642278 | 5033 | 822 | 15658079 | 15658153 | 2606 | 2679 | 342 | 366 |
| ENST00000644374 | 3890 | 822 | 15658079 | 15658153 | 1276 | 1349 | 342 | 366 |
| ENST00000645775 | 3921 | 822 | 15658079 | 15658153 | 1336 | 1409 | 342 | 366 |
| ENST00000646828 | 4035 | 822 | 15658079 | 15658153 | 1454 | 1527 | 342 | 366 |
| ENST00000646918 | 4593 | 822 | 15658079 | 15658153 | 1998 | 2071 | 342 | 366 |
| ENST00000647087 | 3719 | 822 | 15658079 | 15658153 | 1355 | 1428 | 342 | 366 |
| ENST00000647224 | 3827 | 822 | 15658079 | 15658153 | 1285 | 1358 | 342 | 366 |
| 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 |
| 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 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| Q12929 | 342 | 366 | 1 | 822 | Chain | ID=PRO_0000086994;Note=Epidermal growth factor receptor kinase substrate 8 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EPS8 |
| 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 |
| Mayo | ENST00000645775 | 15713266 | 15713325 | hsa-miR-3670 | chr12:15713296-15713303 | 8mer-1a | chr12:15713282-15713305 | 165.00 | -17.56 |
| Mayo | ENST00000645775 | 15713266 | 15713325 | hsa-miR-3187-3p | chr12:15713287-15713294 | 8mer-1a | chr12:15713282-15713305 | 165.00 | -17.56 |
| Mayo | ENST00000645775 | 15713266 | 15713325 | hsa-miR-20b-3p | chr12:15713316-15713323 | 8mer-1a | chr12:15713302-15713323 | 155.00 | -17.13 |
| MSBB | ENST00000645775 | 15713266 | 15713325 | hsa-miR-3670 | chr12:15713296-15713303 | 8mer-1a | chr12:15713282-15713305 | 165.00 | -17.56 |
| MSBB | ENST00000645775 | 15713266 | 15713325 | hsa-miR-3187-3p | chr12:15713287-15713294 | 8mer-1a | chr12:15713282-15713305 | 165.00 | -17.56 |
| MSBB | ENST00000645775 | 15713266 | 15713325 | hsa-miR-20b-3p | chr12:15713316-15713323 | 8mer-1a | chr12:15713302-15713323 | 155.00 | -17.13 |
| ROSMAP | ENST00000645775 | 15713266 | 15713325 | hsa-miR-3670 | chr12:15713296-15713303 | 8mer-1a | chr12:15713282-15713305 | 165.00 | -17.56 |
| ROSMAP | ENST00000645775 | 15713266 | 15713325 | hsa-miR-3187-3p | chr12:15713287-15713294 | 8mer-1a | chr12:15713282-15713305 | 165.00 | -17.56 |
| ROSMAP | ENST00000645775 | 15713266 | 15713325 | hsa-miR-20b-3p | chr12:15713316-15713323 | 8mer-1a | chr12:15713302-15713323 | 155.00 | -17.13 |
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SNVs in the skipped exons for EPS8 |
| - 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 EPS8 |
| 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 EPS8 |
| 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 EPS8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for EPS8 |
| 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 EPS8 |
| 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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