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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | Q9NZC7 | |
| Context | PubMed: WWOX [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for WWOX from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for WWOX |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for WWOX |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138800 | 16 | 78133631:78133782:78142319:78142384:78143674:78143732 | 78142319:78142384 | ENSG00000186153.12 | ENST00000408984.3,ENST00000539474.2,ENST00000355860.3,ENST00000402655.2,ENST00000406884.2,ENST00000561846.1,ENST00000562214.1,ENST00000565562.1 |
| exon_skip_138801 | 16 | 78143674:78143732:78148872:78149051:78198079:78198186 | 78148872:78149051 | ENSG00000186153.12 | ENST00000408984.3,ENST00000563358.1,ENST00000566780.1,ENST00000355860.3,ENST00000406884.2,ENST00000569332.1,ENST00000561846.1 |
| exon_skip_138804 | 16 | 78148872:78149051:78198079:78198186:78420756:78420845 | 78198079:78198186 | ENSG00000186153.12 | ENST00000408984.3,ENST00000566780.1,ENST00000569332.1 |
| exon_skip_138805 | 16 | 78148872:78149051:78198079:78198186:79245504:79246564 | 78198079:78198186 | ENSG00000186153.12 | ENST00000406884.2 |
| exon_skip_138808 | 16 | 78198079:78198186:78420756:78420845:78458766:78458853 | 78420756:78420845 | ENSG00000186153.12 | ENST00000408984.3,ENST00000566780.1,ENST00000566662.1,ENST00000562639.1,ENST00000569332.1 |
| exon_skip_138809 | 16 | 78420756:78420845:78458766:78458952:78466384:78466500 | 78458766:78458952 | ENSG00000186153.12 | ENST00000408984.3,ENST00000566780.1,ENST00000562639.1,ENST00000569332.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WWOX |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138800 | 16 | 78133631:78133782:78142319:78142384:78143674:78143732 | 78142319:78142384 | ENSG00000186153.12 | ENST00000402655.2,ENST00000406884.2,ENST00000539474.2,ENST00000562214.1,ENST00000355860.3,ENST00000408984.3,ENST00000565562.1,ENST00000561846.1 |
| exon_skip_138801 | 16 | 78143674:78143732:78148872:78149051:78198079:78198186 | 78148872:78149051 | ENSG00000186153.12 | ENST00000566780.1,ENST00000569332.1,ENST00000406884.2,ENST00000355860.3,ENST00000408984.3,ENST00000561846.1,ENST00000563358.1 |
| exon_skip_138804 | 16 | 78148872:78149051:78198079:78198186:78420756:78420845 | 78198079:78198186 | ENSG00000186153.12 | ENST00000566780.1,ENST00000569332.1,ENST00000408984.3 |
| exon_skip_138808 | 16 | 78198079:78198186:78420756:78420845:78458766:78458853 | 78420756:78420845 | ENSG00000186153.12 | ENST00000566780.1,ENST00000569332.1,ENST00000566662.1,ENST00000408984.3,ENST00000562639.1 |
| exon_skip_138809 | 16 | 78420756:78420845:78458766:78458952:78466384:78466500 | 78458766:78458952 | ENSG00000186153.12 | ENST00000566780.1,ENST00000569332.1,ENST00000408984.3,ENST00000562639.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000566780 | 78148872 | 78149051 | Frame-shift |
| ENST00000566780 | 78198079 | 78198186 | Frame-shift |
| ENST00000566780 | 78420756 | 78420845 | Frame-shift |
| ENST00000566780 | 78458766 | 78458952 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000566780 | 78148872 | 78149051 | Frame-shift |
| ENST00000566780 | 78198079 | 78198186 | Frame-shift |
| ENST00000566780 | 78420756 | 78420845 | Frame-shift |
| ENST00000566780 | 78458766 | 78458952 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WWOX |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 78458766 | 78458952 | 972 | 1157 | 202 | 263 |
| Loci of skipped exons in GTEx 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 | 78458766 | 78458952 | 972 | 1157 | 202 | 263 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for WWOX |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_138800 | 78142320 | 78142384 | 78142353 | 78142353 | Frame_Shift_Del | A | - | p.P47fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_138800 | 78142320 | 78142384 | 78142362 | 78142362 | Frame_Shift_Del | A | - | p.G50fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_138801 | 78148873 | 78149051 | 78148883 | 78148883 | Frame_Shift_Del | A | - | p.K81fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_138801 | 78148873 | 78149051 | 78148903 | 78148903 | Frame_Shift_Del | C | - | p.D87fs |
| STAD | TCGA-BR-4184-01 | exon_skip_138805 exon_skip_138804 | 78198080 | 78198186 | 78198099 | 78198099 | Frame_Shift_Del | T | - | p.S143fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_138805 exon_skip_138804 | 78198080 | 78198186 | 78198139 | 78198139 | Frame_Shift_Del | A | - | p.N157fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_138809 | 78458767 | 78458952 | 78458898 | 78458898 | Frame_Shift_Del | T | - | p.V246fs |
| COAD | TCGA-G4-6315-01 | exon_skip_138800 | 78142320 | 78142384 | 78142372 | 78142372 | Nonsense_Mutation | C | T | p.R54X |
| COAD | TCGA-CA-6718-01 | exon_skip_138805 exon_skip_138804 | 78198080 | 78198186 | 78198181 | 78198181 | Nonsense_Mutation | G | T | p.E171X |
| LUAD | TCGA-05-4389-01 | exon_skip_138809 | 78458767 | 78458952 | 78458910 | 78458910 | Nonsense_Mutation | C | G | p.S250* |
| HNSC | TCGA-D6-6516-01 | exon_skip_138809 | 78458767 | 78458952 | 78458951 | 78458951 | Nonsense_Mutation | C | T | p.R264* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| JHH4_LIVER | 78142320 | 78142384 | 78142339 | 78142339 | Frame_Shift_Del | C | - | p.Q43fs |
| HARA_LUNG | 78142320 | 78142384 | 78142340 | 78142340 | Missense_Mutation | A | C | p.Q43P |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78148873 | 78149051 | 78148943 | 78148943 | Missense_Mutation | C | T | p.P101S |
| NCIH661_LUNG | 78148873 | 78149051 | 78148983 | 78148983 | Missense_Mutation | T | C | p.M114T |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78198080 | 78198186 | 78198097 | 78198097 | Missense_Mutation | T | C | p.S143P |
| AN3CA_ENDOMETRIUM | 78198080 | 78198186 | 78198104 | 78198104 | Missense_Mutation | C | T | p.A145V |
| BT474_BREAST | 78198080 | 78198186 | 78198167 | 78198167 | Missense_Mutation | C | T | p.S166L |
| SNUC2B_LARGE_INTESTINE | 78198080 | 78198186 | 78198170 | 78198170 | Missense_Mutation | G | A | p.R167H |
| CGTHW1_THYROID | 78198080 | 78198186 | 78198170 | 78198170 | Missense_Mutation | G | A | p.R167H |
| LS411N_LARGE_INTESTINE | 78420757 | 78420845 | 78420780 | 78420780 | Missense_Mutation | G | A | p.M180I |
| C99_LARGE_INTESTINE | 78420757 | 78420845 | 78420784 | 78420784 | Missense_Mutation | C | G | p.L182V |
| GB1_CENTRAL_NERVOUS_SYSTEM | 78420757 | 78420845 | 78420790 | 78420790 | Missense_Mutation | C | T | p.L184F |
| SW48_LARGE_INTESTINE | 78420757 | 78420845 | 78420793 | 78420793 | Missense_Mutation | G | A | p.A185T |
| SNU1040_LARGE_INTESTINE | 78420757 | 78420845 | 78420793 | 78420793 | Missense_Mutation | G | A | p.A185T |
| NCIH2029_LUNG | 78420757 | 78420845 | 78420803 | 78420803 | Missense_Mutation | G | C | p.R188P |
| GP2D_LARGE_INTESTINE | 78420757 | 78420845 | 78420803 | 78420803 | Missense_Mutation | G | A | p.R188H |
| GP5D_LARGE_INTESTINE | 78420757 | 78420845 | 78420803 | 78420803 | Missense_Mutation | G | A | p.R188H |
| SNU175_LARGE_INTESTINE | 78458767 | 78458952 | 78458792 | 78458792 | Missense_Mutation | G | A | p.A211T |
| OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78458767 | 78458952 | 78458810 | 78458810 | Missense_Mutation | C | T | p.P217S |
| NCIH1623_LUNG | 78458767 | 78458952 | 78458827 | 78458827 | Missense_Mutation | A | T | p.K222N |
| NCIH1944_LUNG | 78458767 | 78458952 | 78458892 | 78458892 | Missense_Mutation | A | G | p.Q244R |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 78458767 | 78458952 | 78458893 | 78458894 | Missense_Mutation | GG | TT | p.244_245QD>HY |
| JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78458767 | 78458952 | 78458907 | 78458907 | Missense_Mutation | G | A | p.R249H |
| WM983B_SKIN | 78458767 | 78458952 | 78458909 | 78458909 | Missense_Mutation | T | A | p.S250T |
| CL34_LARGE_INTESTINE | 78142320 | 78142384 | 78142372 | 78142372 | Nonsense_Mutation | C | T | p.R54* |
| A101D_SKIN | 78142320 | 78142384 | 78142384 | 78142384 | Splice_Site | G | C | p.D58H |
| HS294T_SKIN | 78142320 | 78142384 | 78142384 | 78142384 | Splice_Site | G | C | p.D58H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WWOX |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WWOX |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WWOX |
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RelatedDrugs for WWOX |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| WWOX | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| WWOX | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| WWOX | C0042076 | Urologic Neoplasms | 1 | CTD_human |
| WWOX | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| WWOX | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| WWOX | C3280452 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 | 1 | ORPHANET;UNIPROT |
| WWOX | C3495559 | Juvenile arthritis | 1 | CTD_human |
| WWOX | C4015519 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | 1 | UNIPROT |
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