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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for WWOX |
Gene summary |
Gene information | Gene symbol | WWOX | Gene ID | 51741 |
Gene name | WW domain containing oxidoreductase | |
Synonyms | D16S432E|EIEE28|FOR|FRA16D|HHCMA56|PRO0128|SCAR12|SDR41C1|WOX1 | |
Cytomap | 16q23.1-q23.2 | |
Type of gene | protein-coding | |
Description | WW domain-containing oxidoreductaseWW domain-containing protein WWOXfragile site FRA16D oxidoreductaseshort chain dehydrogenase/reductase family 41C member 1 | |
Modification date | 20200313 | |
UniProtAcc | A0A087WZG5, A0A1Y0ZJ50, A0A1Y0ZSQ6, | |
Context | - 27551439(WWOX Dysfunction Induces Sequential Aggregation of TRAPPC6AΔ, TIAF1, Tau and Amyloid β, and Causes Apoptosis) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed 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 |
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. |
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 |
CB | DOWN | ENST00000402655.6 | WWOX-202:protein_coding:WWOX | 5.923300e+01 | -1.427692e+00 | 7.547030e-03 | 2.760409e-02 |
TC | DOWN | ENST00000402655.6 | WWOX-202:protein_coding:WWOX | 2.389706e+01 | -2.747142e+00 | 1.384606e-03 | 1.266110e-02 |
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 WWOX |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_128689 | chr16 | 78386860:78386948:78424870:78425055:78432488:78432603 | 78424870:78425055 |
exon_skip_200083 | chr16 | 78109778:78109835:78114976:78115154:78164183:78164289 | 78114976:78115154 |
exon_skip_222899 | chr16 | 78099786:78099999:78108423:78108487:78109778:78109835 | 78108423:78108487 |
exon_skip_34064 | chr16 | 78099735:78099885:78108423:78108487:78109778:78109835 | 78108423:78108487 |
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 WWOX |
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 |
ENST00000566780 | 78108423 | 78108487 | Frame-shift |
ENST00000566780 | 78114976 | 78115154 | Frame-shift |
ENST00000566780 | 78424870 | 78425055 | 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 |
ENST00000566780 | 78108423 | 78108487 | 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 |
ENST00000566780 | 78108423 | 78108487 | Frame-shift |
ENST00000566780 | 78114976 | 78115154 | Frame-shift |
ENST00000566780 | 78424870 | 78425055 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WWOX |
p-ENSG00000186153_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 |
ENST00000566780 | 2499 | 414 | 78424870 | 78425055 | 973 | 1157 | 202 | 263 |
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 |
ENST00000566780 | 2499 | 414 | 78424870 | 78425055 | 973 | 1157 | 202 | 263 |
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 |
Q9NZC7 | 202 | 263 | 37 | 414 | Alternative sequence | ID=VSP_016359;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292 |
Q9NZC7 | 202 | 263 | 137 | 414 | Alternative sequence | ID=VSP_016360;Note=In isoform 6. GFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAAT |
Q9NZC7 | 202 | 263 | 138 | 213 | Alternative sequence | ID=VSP_016362;Note=In isoform 7. FETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAAT->KASCHVGRTLKHTRVEELSLLPTAINRELPPPCTVLLSQNWRVWEGCTSTTAAAACPHQKLRAKRRPGPCGRSARG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9NZC7 | 202 | 263 | 173 | 352 | Alternative sequence | ID=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 |
Q9NZC7 | 202 | 263 | 190 | 414 | Alternative sequence | ID=VSP_016365;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292 |
Q9NZC7 | 202 | 263 | 214 | 414 | Alternative sequence | ID=VSP_016366;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9NZC7 | 202 | 263 | 260 | 260 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9NZC7 | 202 | 263 | 1 | 414 | Chain | ID=PRO_0000054815;Note=WW domain-containing oxidoreductase |
Q9NZC7 | 202 | 263 | 216 | 216 | Natural variant | ID=VAR_052323;Note=L->V;Dbxref=dbSNP:rs7201683 |
Q9NZC7 | 202 | 263 | 125 | 414 | Region | Note=Interaction with MAPT;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9NZC7 | 202 | 263 | 209 | 273 | Region | Note=Mediates targeting to the mitochondria;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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 |
Q9NZC7 | 202 | 263 | 37 | 414 | Alternative sequence | ID=VSP_016359;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292 |
Q9NZC7 | 202 | 263 | 137 | 414 | Alternative sequence | ID=VSP_016360;Note=In isoform 6. GFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAAT |
Q9NZC7 | 202 | 263 | 138 | 213 | Alternative sequence | ID=VSP_016362;Note=In isoform 7. FETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAAT->KASCHVGRTLKHTRVEELSLLPTAINRELPPPCTVLLSQNWRVWEGCTSTTAAAACPHQKLRAKRRPGPCGRSARG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9NZC7 | 202 | 263 | 173 | 352 | Alternative sequence | ID=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 |
Q9NZC7 | 202 | 263 | 190 | 414 | Alternative sequence | ID=VSP_016365;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10861292;Dbxref=PMID:10861292 |
Q9NZC7 | 202 | 263 | 214 | 414 | Alternative sequence | ID=VSP_016366;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9NZC7 | 202 | 263 | 260 | 260 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9NZC7 | 202 | 263 | 1 | 414 | Chain | ID=PRO_0000054815;Note=WW domain-containing oxidoreductase |
Q9NZC7 | 202 | 263 | 216 | 216 | Natural variant | ID=VAR_052323;Note=L->V;Dbxref=dbSNP:rs7201683 |
Q9NZC7 | 202 | 263 | 125 | 414 | Region | Note=Interaction with MAPT;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9NZC7 | 202 | 263 | 209 | 273 | Region | Note=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 |
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 WWOX |
- 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 WWOX |
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 WWOX |
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 WWOX |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for WWOX |
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 WWOX |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |