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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 YWHAE |
 Gene summary |
| Gene information | Gene symbol | YWHAE | Gene ID | 7531 |
| Gene name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | |
| Synonyms | 14-3-3E|HEL2|KCIP-1|MDCR|MDS | |
| Cytomap | 17p13.3 | |
| Type of gene | protein-coding | |
| Description | 14-3-3 protein epsilon14-3-3 epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine | |
| 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 |
| YWHAE | GO:0000165 | MAPK cascade | 12917326 |
| YWHAE | GO:0034605 | cellular response to heat | 12917326 |
| YWHAE | GO:0046827 | positive regulation of protein export from nucleus | 12917326 |
| YWHAE | GO:0051480 | regulation of cytosolic calcium ion concentration | 18029012 |
| YWHAE | GO:0060306 | regulation of membrane repolarization | 11953308 |
| YWHAE | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 11953308 |
| YWHAE | GO:1901020 | negative regulation of calcium ion transmembrane transporter activity | 18029012 |
| YWHAE | GO:1902309 | negative regulation of peptidyl-serine dephosphorylation | 11953308 |
| YWHAE | GO:1905913 | negative regulation of calcium ion export across plasma membrane | 18029012 |
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Gene structures and expression levels for YWHAE |
| 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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ENSG00000108953
| 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 |
| HCC | UP | ENST00000466227.6 | YWHAE-202:nonsense_mediated_decay:YWHAE | 5.603373e+01 | 1.070376e+00 | 1.614806e-03 | 4.569756e-02 |
| CB | DOWN | ENST00000466227.6 | YWHAE-202:nonsense_mediated_decay:YWHAE | 2.764733e+03 | -1.329404e+00 | 3.995885e-11 | 2.956289e-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 YWHAE |
| 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_108688 | chr17 | 1361092:1361298:1361902:1362008:1364859:1364894 | 1361902:1362008 |
| exon_skip_122791 | chr17 | 1345328:1345499:1354211:1354347:1361092:1361294 | 1354211:1354347 |
| exon_skip_134661 | chr17 | 1345483:1345499:1364859:1365058:1400047:1400181 | 1364859:1365058 |
| exon_skip_141438 | chr17 | 1345453:1345499:1364859:1365058:1400047:1400135 | 1364859:1365058 |
| exon_skip_146403 | chr17 | 1345328:1345499:1354211:1354347:1364859:1364892 | 1354211:1354347 |
| exon_skip_157026 | chr17 | 1345328:1345499:1364859:1365058:1400047:1400135 | 1364859:1365058 |
| exon_skip_157336 | chr17 | 1364859:1365058:1369709:1369741:1400047:1400084 | 1369709:1369741 |
| exon_skip_165398 | chr17 | 1354211:1354347:1361930:1362008:1364859:1365058 | 1361930:1362008 |
| exon_skip_172274 | chr17 | 1354211:1354347:1361930:1362008:1364859:1364912 | 1361930:1362008 |
| exon_skip_186317 | chr17 | 1364952:1365058:1369709:1369741:1400047:1400135 | 1369709:1369741 |
| exon_skip_19516 | chr17 | 1364859:1365058:1369709:1369741:1400047:1400135 | 1369709:1369741 |
| exon_skip_200987 | chr17 | 1345483:1345499:1354211:1354347:1364859:1365058 | 1354211:1354347 |
| exon_skip_203380 | chr17 | 1361930:1362008:1364859:1365058:1400047:1400135 | 1364859:1365058 |
| exon_skip_207144 | chr17 | 1345438:1345499:1354211:1354347:1361092:1361294 | 1354211:1354347 |
| exon_skip_219474 | chr17 | 1365048:1365058:1369709:1369741:1400047:1400135 | 1369709:1369741 |
| exon_skip_228969 | chr17 | 1354253:1354347:1361930:1362008:1364859:1365058 | 1361930:1362008 |
| exon_skip_238967 | chr17 | 1345328:1345499:1354211:1354347:1364859:1365058 | 1354211:1354347 |
| exon_skip_248094 | chr17 | 1354211:1354347:1361930:1362008:1364859:1364892 | 1361930:1362008 |
| exon_skip_260575 | chr17 | 1345328:1345499:1347962:1348008:1354211:1354347 | 1347962:1348008 |
| exon_skip_264724 | chr17 | 1364996:1365058:1369709:1369741:1400047:1400135 | 1369709:1369741 |
| exon_skip_266248 | chr17 | 1345328:1345499:1354211:1354347:1361092:1361129 | 1354211:1354347 |
| exon_skip_2790 | chr17 | 1345328:1345499:1354211:1354347:1364859:1364912 | 1354211:1354347 |
| exon_skip_292914 | chr17 | 1354258:1354347:1361930:1362008:1364859:1364912 | 1361930:1362008 |
| exon_skip_47574 | chr17 | 1361092:1361298:1361902:1362008:1364859:1365058 | 1361902:1362008 |
| exon_skip_91906 | chr17 | 1354211:1354347:1361092:1361298:1361902:1362008 | 1361092:1361298 |
| exon_skip_92489 | chr17 | 1345487:1345499:1354211:1354347:1361092:1361294 | 1354211:1354347 |
| 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 YWHAE |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for YWHAE |
p-ENSG00000108953_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 |
| 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 |
| 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 YWHAE |
| 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 YWHAE |
| - 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 YWHAE |
| 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 |
| ADstage | MSBB | STG | exon_skip_19516 | -3.292618e-01 | 1.269867e-03 | chr17 | - | 1364859 | 1365058 | 1369709 | 1369741 | 1400047 | 1400135 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for YWHAE |
| 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 YWHAE |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | SRSF2 | exon_skip_146403 | -4.109771e-01 | 3.438195e-06 |
| TC | RBM3 | exon_skip_146403 | -4.400364e-01 | 5.515123e-07 |
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RelatedDrugs for YWHAE |
| 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 YWHAE |
| 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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