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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 EWSR1 |
 Gene summary |
| Gene information | Gene symbol | EWSR1 | Gene ID | 2130 |
| Gene name | EWS RNA binding protein 1 | |
| Synonyms | EWS|EWS-FLI1|bK984G1.4 | |
| Cytomap | 22q12.2 | |
| Type of gene | protein-coding | |
| Description | RNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogene | |
| Modification date | 20200329 | |
| 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 EWSR1 |
| 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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ENSG00000182944
| 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 | ENST00000406548.5 | EWSR1-207:protein_coding:EWSR1 | 1.460196e+02 | 1.473057e+00 | 4.381644e-04 | 2.561204e-02 |
| CB | DOWN | ENST00000360091.3 | EWSR1-205:protein_coding:EWSR1 | 5.649088e+02 | -1.727462e+00 | 4.467891e-13 | 7.585807e-11 |
| CB | UP | ENST00000485037.5 | EWSR1-219:retained_intron:EWSR1 | 9.451236e+01 | 8.981270e-01 | 1.982592e-08 | 5.408087e-07 |
| CB | DOWN | ENST00000331029.11 | EWSR1-201:protein_coding:EWSR1 | 3.056054e+02 | -1.392311e+00 | 2.027743e-04 | 1.346426e-03 |
| TC | DOWN | ENST00000360091.3 | EWSR1-205:protein_coding:EWSR1 | 4.225283e+02 | -9.632381e-01 | 4.504275e-08 | 3.183916e-06 |
| 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 EWSR1 |
| 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_100850 | chr22 | 29288734:29288786:29291565:29291599:29292137:29292169 | 29291565:29291599 |
| exon_skip_105086 | chr22 | 29273846:29273864:29274268:29274282:29278030:29278041 | 29274268:29274282 |
| exon_skip_108123 | chr22 | 29288606:29288786:29291562:29291599:29292137:29292169 | 29291562:29291599 |
| exon_skip_147755 | chr22 | 29273741:29273864:29278030:29278216:29282390:29282424 | 29278030:29278216 |
| exon_skip_160013 | chr22 | 29296239:29296368:29297827:29297949:29298733:29298895 | 29297827:29297949 |
| exon_skip_178711 | chr22 | 29278131:29278216:29282390:29282557:29286923:29286935 | 29282390:29282557 |
| exon_skip_185446 | chr22 | 29288606:29288786:29291565:29291599:29292137:29292169 | 29291565:29291599 |
| exon_skip_188741 | chr22 | 29278131:29278216:29282390:29282557:29286923:29287106 | 29282390:29282557 |
| exon_skip_226117 | chr22 | 29278131:29278216:29282390:29282557:29286923:29287011 | 29282390:29282557 |
| exon_skip_260867 | chr22 | 29292500:29292606:29296239:29296368:29297827:29297949 | 29296239:29296368 |
| exon_skip_263954 | chr22 | 29287116:29287134:29288606:29291599:29292137:29292169 | 29288606:29291599 |
| exon_skip_267785 | chr22 | 29273741:29273864:29274268:29274282:29278030:29278041 | 29274268:29274282 |
| exon_skip_274191 | chr22 | 29288776:29288786:29291565:29291599:29292137:29292169 | 29291565:29291599 |
| exon_skip_278875 | chr22 | 29288776:29288786:29291562:29291599:29292137:29292169 | 29291562:29291599 |
| exon_skip_284289 | chr22 | 29273741:29273864:29274265:29274282:29278030:29278041 | 29274265:29274282 |
| exon_skip_287460 | chr22 | 29296239:29296368:29297827:29297949:29298733:29298786 | 29297827:29297949 |
| exon_skip_290476 | chr22 | 29292159:29292169:29292488:29292606:29296239:29296368 | 29292488:29292606 |
| exon_skip_295169 | chr22 | 29287107:29287134:29288606:29291599:29292137:29292169 | 29288606:29291599 |
| exon_skip_296182 | chr22 | 29286923:29287134:29288606:29291599:29292137:29292169 | 29288606:29291599 |
| exon_skip_3808 | chr22 | 29273846:29273864:29274265:29274282:29278030:29278041 | 29274265:29274282 |
| exon_skip_39929 | chr22 | 29298733:29298895:29299195:29299280:29299599:29299851 | 29299195:29299280 |
| exon_skip_42735 | chr22 | 29298790:29298895:29299195:29299280:29299599:29299851 | 29299195:29299280 |
| exon_skip_453 | chr22 | 29298790:29298895:29299234:29299331:29299599:29299851 | 29299234:29299331 |
| exon_skip_49294 | chr22 | 29296239:29296368:29297827:29297949:29298733:29298810 | 29297827:29297949 |
| exon_skip_71894 | chr22 | 29298733:29298895:29299234:29299331:29299599:29299851 | 29299234:29299331 |
| exon_skip_94697 | chr22 | 29288734:29288786:29291562:29291599:29292137:29292169 | 29291562:29291599 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_108123 | Mayo_CB | 7.000000e-01 | 8.018182e-01 | -1.018182e-01 | 1.064423e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for EWSR1 |
| 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 |
| ENST00000397938 | 29291562 | 29291599 | Frame-shift |
| ENST00000397938 | 29292488 | 29292606 | Frame-shift |
| ENST00000397938 | 29299234 | 29299331 | Frame-shift |
| ENST00000397938 | 29282390 | 29282557 | In-frame |
| ENST00000397938 | 29297827 | 29297949 | 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 |
| ENST00000397938 | 29291562 | 29291599 | Frame-shift |
| ENST00000397938 | 29282390 | 29282557 | In-frame |
| ENST00000397938 | 29297827 | 29297949 | 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 |
| ENST00000397938 | 29278030 | 29278216 | Frame-shift |
| ENST00000397938 | 29291562 | 29291599 | Frame-shift |
| ENST00000397938 | 29292488 | 29292606 | Frame-shift |
| ENST00000397938 | 29296239 | 29296368 | Frame-shift |
| ENST00000397938 | 29299234 | 29299331 | Frame-shift |
| ENST00000397938 | 29282390 | 29282557 | In-frame |
| ENST00000397938 | 29297827 | 29297949 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EWSR1 |
p-ENSG00000182944_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 |
| ENST00000397938 | 2671 | 656 | 29282390 | 29282557 | 734 | 900 | 138 | 193 |
| ENST00000397938 | 2671 | 656 | 29297827 | 29297949 | 1615 | 1736 | 432 | 472 |
| 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 |
| ENST00000397938 | 2671 | 656 | 29282390 | 29282557 | 734 | 900 | 138 | 193 |
| ENST00000397938 | 2671 | 656 | 29297827 | 29297949 | 1615 | 1736 | 432 | 472 |
| 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 |
| ENST00000397938 | 2671 | 656 | 29282390 | 29282557 | 734 | 900 | 138 | 193 |
| ENST00000397938 | 2671 | 656 | 29297827 | 29297949 | 1615 | 1736 | 432 | 472 |
| 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 |
| Q01844 | 138 | 193 | 136 | 191 | Alternative sequence | ID=VSP_045412;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q01844 | 138 | 193 | 1 | 656 | Chain | ID=PRO_0000081586;Note=RNA-binding protein EWS |
| Q01844 | 138 | 193 | 1 | 285 | Region | Note=EAD (Gln/Pro/Thr-rich) |
| Q01844 | 138 | 193 | 8 | 285 | Region | Note=31 X approximate tandem repeats |
| Q01844 | 138 | 193 | 126 | 156 | Repeat | Note=14 |
| Q01844 | 138 | 193 | 157 | 163 | Repeat | Note=15 |
| Q01844 | 138 | 193 | 164 | 170 | Repeat | Note=16 |
| Q01844 | 138 | 193 | 171 | 177 | Repeat | Note=17 |
| Q01844 | 138 | 193 | 178 | 188 | Repeat | Note=18 |
| Q01844 | 138 | 193 | 189 | 193 | Repeat | Note=19 |
| Q01844 | 432 | 472 | 355 | 656 | Alternative sequence | ID=VSP_043454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q01844 | 432 | 472 | 441 | 443 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPE |
| Q01844 | 432 | 472 | 1 | 656 | Chain | ID=PRO_0000081586;Note=RNA-binding protein EWS |
| Q01844 | 432 | 472 | 454 | 513 | Compositional bias | Note=Arg/Gly/Pro-rich |
| Q01844 | 432 | 472 | 361 | 447 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01844 | 432 | 472 | 439 | 439 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61545 |
| Q01844 | 432 | 472 | 455 | 455 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 464 | 464 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 471 | 471 | Modified residue | Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 471 | 471 | Modified residue | Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|PubMed:11278906;Dbxref=PMID:24129315,PMID:11278906 |
| 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 |
| Q01844 | 138 | 193 | 136 | 191 | Alternative sequence | ID=VSP_045412;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q01844 | 138 | 193 | 1 | 656 | Chain | ID=PRO_0000081586;Note=RNA-binding protein EWS |
| Q01844 | 138 | 193 | 1 | 285 | Region | Note=EAD (Gln/Pro/Thr-rich) |
| Q01844 | 138 | 193 | 8 | 285 | Region | Note=31 X approximate tandem repeats |
| Q01844 | 138 | 193 | 126 | 156 | Repeat | Note=14 |
| Q01844 | 138 | 193 | 157 | 163 | Repeat | Note=15 |
| Q01844 | 138 | 193 | 164 | 170 | Repeat | Note=16 |
| Q01844 | 138 | 193 | 171 | 177 | Repeat | Note=17 |
| Q01844 | 138 | 193 | 178 | 188 | Repeat | Note=18 |
| Q01844 | 138 | 193 | 189 | 193 | Repeat | Note=19 |
| Q01844 | 432 | 472 | 355 | 656 | Alternative sequence | ID=VSP_043454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q01844 | 432 | 472 | 441 | 443 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPE |
| Q01844 | 432 | 472 | 1 | 656 | Chain | ID=PRO_0000081586;Note=RNA-binding protein EWS |
| Q01844 | 432 | 472 | 454 | 513 | Compositional bias | Note=Arg/Gly/Pro-rich |
| Q01844 | 432 | 472 | 361 | 447 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01844 | 432 | 472 | 439 | 439 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61545 |
| Q01844 | 432 | 472 | 455 | 455 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 464 | 464 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 471 | 471 | Modified residue | Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 471 | 471 | Modified residue | Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|PubMed:11278906;Dbxref=PMID:24129315,PMID:11278906 |
| 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 |
| Q01844 | 138 | 193 | 136 | 191 | Alternative sequence | ID=VSP_045412;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q01844 | 138 | 193 | 1 | 656 | Chain | ID=PRO_0000081586;Note=RNA-binding protein EWS |
| Q01844 | 138 | 193 | 1 | 285 | Region | Note=EAD (Gln/Pro/Thr-rich) |
| Q01844 | 138 | 193 | 8 | 285 | Region | Note=31 X approximate tandem repeats |
| Q01844 | 138 | 193 | 126 | 156 | Repeat | Note=14 |
| Q01844 | 138 | 193 | 157 | 163 | Repeat | Note=15 |
| Q01844 | 138 | 193 | 164 | 170 | Repeat | Note=16 |
| Q01844 | 138 | 193 | 171 | 177 | Repeat | Note=17 |
| Q01844 | 138 | 193 | 178 | 188 | Repeat | Note=18 |
| Q01844 | 138 | 193 | 189 | 193 | Repeat | Note=19 |
| Q01844 | 432 | 472 | 355 | 656 | Alternative sequence | ID=VSP_043454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q01844 | 432 | 472 | 441 | 443 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPE |
| Q01844 | 432 | 472 | 1 | 656 | Chain | ID=PRO_0000081586;Note=RNA-binding protein EWS |
| Q01844 | 432 | 472 | 454 | 513 | Compositional bias | Note=Arg/Gly/Pro-rich |
| Q01844 | 432 | 472 | 361 | 447 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01844 | 432 | 472 | 439 | 439 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61545 |
| Q01844 | 432 | 472 | 455 | 455 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 464 | 464 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 471 | 471 | Modified residue | Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278906;Dbxref=PMID:11278906 |
| Q01844 | 432 | 472 | 471 | 471 | Modified residue | Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|PubMed:11278906;Dbxref=PMID:24129315,PMID:11278906 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EWSR1 |
| 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 EWSR1 |
| - 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 EWSR1 |
| 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 |
| CDR | MSBB | IFG | exon_skip_284289 | -4.133375e-01 | 2.879471e-02 | chr22 | + | 29273741 | 29273864 | 29274265 | 29274282 | 29278030 | 29278041 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EWSR1 |
| 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 EWSR1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_108123 | 5.366840e-01 | 3.057213e-13 |
| CB | NUP42 | exon_skip_185446 | 5.489262e-01 | 6.815734e-14 |
| DLPFC | ENOX1 | exon_skip_284289 | 4.164742e-01 | 1.071766e-15 |
| HCC | RBM5 | exon_skip_284289 | -6.640616e-01 | 4.339937e-36 |
| HCC | ENOX1 | exon_skip_284289 | -4.507600e-01 | 4.560925e-15 |
| IFG | RBM5 | exon_skip_284289 | -5.442341e-01 | 2.754011e-03 |
| PG | ENOX1 | exon_skip_284289 | 4.286205e-01 | 7.601066e-10 |
| TC | ENOX1 | exon_skip_3808 | 4.314168e-01 | 1.230603e-08 |
| TC | NUP42 | exon_skip_94697 | 5.602965e-01 | 1.320566e-14 |
| TC | EWSR1 | exon_skip_94697 | 4.341821e-01 | 9.692897e-09 |
| TC | ESRP1 | exon_skip_94697 | 5.262127e-01 | 8.925276e-13 |
| TC | NUP42 | exon_skip_100850 | 5.581910e-01 | 1.737403e-14 |
| TC | EWSR1 | exon_skip_100850 | 4.373651e-01 | 7.344741e-09 |
| TC | ESRP1 | exon_skip_100850 | 5.441787e-01 | 1.027626e-13 |
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RelatedDrugs for EWSR1 |
| 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 EWSR1 |
| 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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