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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 WRN |
 Gene summary |
| Gene information | Gene symbol | WRN | Gene ID | 7486 |
| Gene name | WRN RecQ like helicase | |
| Synonyms | RECQ3|RECQL2|RECQL3 | |
| Cytomap | 8p12 | |
| Type of gene | protein-coding | |
| Description | Werner syndrome ATP-dependent helicaseDNA helicase, RecQ-like type 3Werner syndrome RecQ like helicaseWerner syndrome, RecQ helicase-likeexonuclease WRNrecQ protein-like 2 | |
| Modification date | 20200320 | |
| 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 |
| WRN | GO:0000731 | DNA synthesis involved in DNA repair | 17563354 |
| WRN | GO:0006259 | DNA metabolic process | 16622405 |
| WRN | GO:0006284 | base-excision repair | 17611195 |
| WRN | GO:0006974 | cellular response to DNA damage stimulus | 18203716 |
| WRN | GO:0006979 | response to oxidative stress | 17611195 |
| WRN | GO:0009267 | cellular response to starvation | 11420665 |
| WRN | GO:0010225 | response to UV-C | 17563354 |
| WRN | GO:0031297 | replication fork processing | 17115688 |
| WRN | GO:0032508 | DNA duplex unwinding | 11735402|26420422 |
| WRN | GO:0044806 | G-quadruplex DNA unwinding | 11735402 |
| WRN | GO:0051345 | positive regulation of hydrolase activity | 17611195 |
| WRN | GO:0061820 | telomeric D-loop disassembly | 15200954|19734539|26420422 |
| WRN | GO:0071480 | cellular response to gamma radiation | 21639834 |
| WRN | GO:0098530 | positive regulation of strand invasion | 26420422 |
| WRN | GO:1902570 | protein localization to nucleolus | 11420665 |
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Gene structures and expression levels for WRN |
| 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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ENSG00000165392
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 WRN |
| 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_160372 | chr8 | 31111615:31111799:31116354:31116528:31120243:31120424 | 31116354:31116528 |
| exon_skip_175206 | chr8 | 31059153:31059265:31064289:31064434:31064915:31065063 | 31064289:31064434 |
| exon_skip_198438 | chr8 | 31124522:31124623:31124908:31125000:31132365:31132506 | 31124908:31125000 |
| exon_skip_217975 | chr8 | 31088890:31088965:31090465:31090532:31090834:31090942 | 31090465:31090532 |
| exon_skip_24571 | chr8 | 31067033:31067182:31068258:31068327:31076173:31076287 | 31068258:31068327 |
| exon_skip_275391 | chr8 | 31068309:31068327:31076173:31076287:31080867:31081296 | 31076173:31076287 |
| exon_skip_285006 | chr8 | 31124908:31125000:31132365:31132506:31141430:31141600 | 31132365:31132506 |
| exon_skip_293534 | chr8 | 31147364:31147476:31150341:31150455:31154624:31154755 | 31150341:31150455 |
| exon_skip_30557 | chr8 | 31064915:31065063:31067033:31067182:31068258:31068327 | 31067033:31067182 |
| exon_skip_57062 | chr8 | 31142626:31142701:31143550:31143623:31147053:31147128 | 31143550:31143623 |
| exon_skip_62026 | chr8 | 31141430:31141600:31141681:31141775:31142626:31142701 | 31141681:31141775 |
| exon_skip_74125 | chr8 | 31080867:31081296:31083699:31083779:31085166:31085228 | 31083699:31083779 |
| exon_skip_82722 | chr8 | 31116354:31116528:31120243:31120424:31124522:31124623 | 31120243:31120424 |
| 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 WRN |
| 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 |
| ENST00000298139 | 31064289 | 31064434 | Frame-shift |
| ENST00000298139 | 31076173 | 31076287 | Frame-shift |
| ENST00000298139 | 31090465 | 31090532 | Frame-shift |
| ENST00000298139 | 31116354 | 31116528 | Frame-shift |
| ENST00000298139 | 31120243 | 31120424 | Frame-shift |
| ENST00000298139 | 31083699 | 31083779 | In-frame |
| ENST00000298139 | 31124908 | 31125000 | 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 |
| ENST00000298139 | 31076173 | 31076287 | Frame-shift |
| ENST00000298139 | 31090465 | 31090532 | Frame-shift |
| ENST00000298139 | 31120243 | 31120424 | Frame-shift |
| ENST00000298139 | 31141681 | 31141775 | Frame-shift |
| ENST00000298139 | 31067033 | 31067182 | 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 |
| ENST00000298139 | 31068258 | 31068327 | Frame-shift |
| ENST00000298139 | 31076173 | 31076287 | Frame-shift |
| ENST00000298139 | 31090465 | 31090532 | Frame-shift |
| ENST00000298139 | 31116354 | 31116528 | Frame-shift |
| ENST00000298139 | 31120243 | 31120424 | Frame-shift |
| ENST00000298139 | 31132365 | 31132506 | Frame-shift |
| ENST00000298139 | 31141681 | 31141775 | Frame-shift |
| ENST00000298139 | 31143550 | 31143623 | Frame-shift |
| ENST00000298139 | 31150341 | 31150455 | Frame-shift |
| ENST00000298139 | 31083699 | 31083779 | In-frame |
| ENST00000298139 | 31124908 | 31125000 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WRN |
p-ENSG00000165392_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 |
| ENST00000298139 | 5232 | 1432 | 31083699 | 31083779 | 1520 | 1599 | 423 | 450 |
| ENST00000298139 | 5232 | 1432 | 31083699 | 31083779 | 1601 | 1680 | 450 | 477 |
| ENST00000298139 | 5232 | 1432 | 31124908 | 31125000 | 2983 | 3074 | 911 | 941 |
| 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 |
| ENST00000298139 | 5232 | 1432 | 31067033 | 31067182 | 755 | 903 | 168 | 218 |
| 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 |
| ENST00000298139 | 5232 | 1432 | 31083699 | 31083779 | 1520 | 1599 | 423 | 450 |
| ENST00000298139 | 5232 | 1432 | 31083699 | 31083779 | 1601 | 1680 | 450 | 477 |
| ENST00000298139 | 5232 | 1432 | 31124908 | 31125000 | 2983 | 3074 | 911 | 941 |
| 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 |
| Q14191 | 423 | 450 | 2 | 1432 | Chain | ID=PRO_0000205045;Note=Werner syndrome ATP-dependent helicase |
| Q14191 | 423 | 450 | 426 | 426 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q14191 | 423 | 450 | 440 | 440 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q14191 | 423 | 450 | 424 | 477 | Region | Note=2 X 27 AA tandem repeats of H-L-S-P-N-D-N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L-K |
| Q14191 | 423 | 450 | 424 | 450 | Repeat | Note=1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10049920;Dbxref=PMID:10049920 |
| Q14191 | 450 | 477 | 2 | 1432 | Chain | ID=PRO_0000205045;Note=Werner syndrome ATP-dependent helicase |
| Q14191 | 450 | 477 | 453 | 453 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q14191 | 450 | 477 | 467 | 467 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q14191 | 450 | 477 | 424 | 477 | Region | Note=2 X 27 AA tandem repeats of H-L-S-P-N-D-N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L-K |
| Q14191 | 450 | 477 | 424 | 450 | Repeat | Note=1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10049920;Dbxref=PMID:10049920 |
| Q14191 | 450 | 477 | 451 | 477 | Repeat | Note=2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10049920;Dbxref=PMID:10049920 |
| Q14191 | 911 | 941 | 2 | 1432 | Chain | ID=PRO_0000205045;Note=Werner syndrome ATP-dependent helicase |
| Q14191 | 911 | 941 | 912 | 912 | Natural variant | ID=VAR_018945;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs11574323 |
| 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 |
| Q14191 | 168 | 218 | 202 | 204 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FBY |
| Q14191 | 168 | 218 | 2 | 1432 | Chain | ID=PRO_0000205045;Note=Werner syndrome ATP-dependent helicase |
| Q14191 | 168 | 218 | 60 | 228 | Domain | Note=3'-5' exonuclease |
| Q14191 | 168 | 218 | 161 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FBY |
| Q14191 | 168 | 218 | 177 | 185 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FBY |
| Q14191 | 168 | 218 | 193 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FBY |
| Q14191 | 168 | 218 | 207 | 228 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FBY |
| Q14191 | 168 | 218 | 216 | 216 | Metal binding | Note=Magnesium 1%3B catalytic;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2FBV,ECO:0000244|PDB:2FBX,ECO:0000244|PDB:2FC0,ECO:0000269|PubMed:16622405;Dbxref=PMID:16622405 |
| Q14191 | 168 | 218 | 212 | 212 | Mutagenesis | Note=Strongly reduces exonuclease activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16622405;Dbxref=PMID:16622405 |
| Q14191 | 168 | 218 | 172 | 172 | Natural variant | ID=VAR_017455;Note=Polymorphism%3B no effect on exonuclease activity. T->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11161804,ECO:0000269|PubMed:16622405;Dbxref=dbSNP:rs367991517,PMID:11161804,PMID:16622405 |
| Q14191 | 168 | 218 | 2 | 277 | Region | Note=Interaction with WRNIP1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q14191 | 423 | 450 | 2 | 1432 | Chain | ID=PRO_0000205045;Note=Werner syndrome ATP-dependent helicase |
| Q14191 | 423 | 450 | 426 | 426 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q14191 | 423 | 450 | 440 | 440 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q14191 | 423 | 450 | 424 | 477 | Region | Note=2 X 27 AA tandem repeats of H-L-S-P-N-D-N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L-K |
| Q14191 | 423 | 450 | 424 | 450 | Repeat | Note=1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10049920;Dbxref=PMID:10049920 |
| Q14191 | 450 | 477 | 2 | 1432 | Chain | ID=PRO_0000205045;Note=Werner syndrome ATP-dependent helicase |
| Q14191 | 450 | 477 | 453 | 453 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q14191 | 450 | 477 | 467 | 467 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q14191 | 450 | 477 | 424 | 477 | Region | Note=2 X 27 AA tandem repeats of H-L-S-P-N-D-N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L-K |
| Q14191 | 450 | 477 | 424 | 450 | Repeat | Note=1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10049920;Dbxref=PMID:10049920 |
| Q14191 | 450 | 477 | 451 | 477 | Repeat | Note=2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10049920;Dbxref=PMID:10049920 |
| Q14191 | 911 | 941 | 2 | 1432 | Chain | ID=PRO_0000205045;Note=Werner syndrome ATP-dependent helicase |
| Q14191 | 911 | 941 | 912 | 912 | Natural variant | ID=VAR_018945;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs11574323 |
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3'-UTR located exon skipping events that lost miRNA binding sites in WRN |
| 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 WRN |
| - 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 WRN |
| 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 WRN |
| 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 WRN |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_198438 | -4.681593e-01 | 9.001141e-08 |
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RelatedDrugs for WRN |
| 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 WRN |
| 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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