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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for WWOX

check button Gene summary
Gene informationGene symbol

WWOX

Gene ID

51741

Gene nameWW domain containing oxidoreductase
SynonymsD16S432E|EIEE28|FOR|FRA16D|HHCMA56|PRO0128|SCAR12|SDR41C1|WOX1
Cytomap

16q23.1-q23.2

Type of geneprotein-coding
DescriptionWW domain-containing oxidoreductaseWW domain-containing protein WWOXfragile site FRA16D oxidoreductaseshort chain dehydrogenase/reductase family 41C member 1
Modification date20200313
UniProtAcc

A0A087WZG5,

A0A1Y0ZJ50,

A0A1Y0ZSQ6,

A0A411HBC7,

A0A411HBD8,

A0A411HBF4,

A0A411HBF5,

A0A411HBG3,

A0A411HBG5,

A0A411HBG6,

A0A411HBH2,

F5H3R5,

H3BMD1,

Q9NZC7,

Context- 27551439(WWOX Dysfunction Induces Sequential Aggregation of TRAPPC6AΔ, TIAF1, Tau and Amyloid β, and Causes Apoptosis)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
WWOX

GO:0030178

negative regulation of Wnt signaling pathway

19465938

WWOX

GO:0071560

cellular response to transforming growth factor beta stimulus

19366691


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Gene structures and expression levels for WWOX

check buttonSkipped 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.
all structure

ENSG00000186153
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000402655.6WWOX-202:protein_coding:WWOX5.923300e+01-1.427692e+007.547030e-032.760409e-02
TCDOWNENST00000402655.6WWOX-202:protein_coding:WWOX2.389706e+01-2.747142e+001.384606e-031.266110e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for WWOX

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_128689chr1678386860:78386948:78424870:78425055:78432488:7843260378424870:78425055
exon_skip_200083chr1678109778:78109835:78114976:78115154:78164183:7816428978114976:78115154
exon_skip_222899chr1678099786:78099999:78108423:78108487:78109778:7810983578108423:78108487
exon_skip_34064chr1678099735:78099885:78108423:78108487:78109778:7810983578108423:78108487

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for WWOX

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005667807810842378108487Frame-shift
ENST000005667807811497678115154Frame-shift
ENST000005667807842487078425055In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005667807810842378108487Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005667807810842378108487Frame-shift
ENST000005667807811497678115154Frame-shift
ENST000005667807842487078425055In-frame

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Infer the effects of exon skipping event on protein functional features for WWOX

p-ENSG00000186153_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000566780249941478424870784250559731157202263

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000566780249941478424870784250559731157202263

check button 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 featureDescription of feature
Q9NZC720226337414Alternative sequenceID=VSP_016359;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292
Q9NZC7202263137414Alternative sequenceID=VSP_016360;Note=In isoform 6. GFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAAT
Q9NZC7202263138213Alternative sequenceID=VSP_016362;Note=In isoform 7. FETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAAT->KASCHVGRTLKHTRVEELSLLPTAINRELPPPCTVLLSQNWRVWEGCTSTTAAAACPHQKLRAKRRPGPCGRSARG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZC7202263173352Alternative sequenceID=VSP_016363;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11719429,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.7;Dbxref=PMID:11719429,PMID:15489334
Q9NZC7202263190414Alternative sequenceID=VSP_016365;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292
Q9NZC7202263214414Alternative sequenceID=VSP_016366;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZC7202263260260Binding siteNote=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZC72022631414ChainID=PRO_0000054815;Note=WW domain-containing oxidoreductase
Q9NZC7202263216216Natural variantID=VAR_052323;Note=L->V;Dbxref=dbSNP:rs7201683
Q9NZC7202263125414RegionNote=Interaction with MAPT;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZC7202263209273RegionNote=Mediates targeting to the mitochondria;Ontology_term=ECO:0000250;evidence=ECO:0000250

check button 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 featureDescription of feature

check button 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 featureDescription of feature
Q9NZC720226337414Alternative sequenceID=VSP_016359;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292
Q9NZC7202263137414Alternative sequenceID=VSP_016360;Note=In isoform 6. GFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAAT
Q9NZC7202263138213Alternative sequenceID=VSP_016362;Note=In isoform 7. FETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAAT->KASCHVGRTLKHTRVEELSLLPTAINRELPPPCTVLLSQNWRVWEGCTSTTAAAACPHQKLRAKRRPGPCGRSARG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZC7202263173352Alternative sequenceID=VSP_016363;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11719429,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.7;Dbxref=PMID:11719429,PMID:15489334
Q9NZC7202263190414Alternative sequenceID=VSP_016365;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292
Q9NZC7202263214414Alternative sequenceID=VSP_016366;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZC7202263260260Binding siteNote=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZC72022631414ChainID=PRO_0000054815;Note=WW domain-containing oxidoreductase
Q9NZC7202263216216Natural variantID=VAR_052323;Note=L->V;Dbxref=dbSNP:rs7201683
Q9NZC7202263125414RegionNote=Interaction with MAPT;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZC7202263209273RegionNote=Mediates targeting to the mitochondria;Ontology_term=ECO:0000250;evidence=ECO:0000250


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3'-UTR located exon skipping events that lost miRNA binding sites in WWOX

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for WWOX

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for WWOX

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WWOX

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for WWOX

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for WWOX

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for WWOX

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource