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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 WWC3 |
 Gene summary |
| Gene information | Gene symbol | WWC3 | Gene ID | 55841 |
| Gene name | WWC family member 3 | |
| Synonyms | BM042 | |
| Cytomap | Xp22.2 | |
| Type of gene | protein-coding | |
| Description | protein WWC3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9ULE0 | |
| Context | PubMed: WWC3 [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 |
| WWC3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 24682284 |
| WWC3 | GO:0035331 | negative regulation of hippo signaling | 24682284 |
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Exon skipping events across known transcript of Ensembl for WWC3 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 WWC3 |
| 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 WWC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509107 | X | 10046838:10046915:10047764:10047844:10058810:10058940 | 10047764:10047844 | ENSG00000047644.13 | ENST00000454666.1,ENST00000380861.4 |
| exon_skip_509109 | X | 10066545:10066619:10077817:10078060:10084457:10084547 | 10077817:10078060 | ENSG00000047644.13 | ENST00000454666.1,ENST00000380861.4 |
| exon_skip_509112 | X | 10084457:10084547:10085163:10085729:10090658:10090779 | 10085163:10085729 | ENSG00000047644.13 | ENST00000454666.1,ENST00000380861.4 |
| exon_skip_509114 | X | 10093063:10093150:10094153:10094346:10096027:10096201 | 10094153:10094346 | ENSG00000047644.13 | ENST00000454666.1,ENST00000380861.4 |
| exon_skip_509116 | X | 10094153:10094346:10096027:10096201:10096596:10096748 | 10096027:10096201 | ENSG00000047644.13 | ENST00000454666.1,ENST00000380861.4 |
| exon_skip_509118 | X | 10096596:10096748:10097995:10098161:10102471:10102636 | 10097995:10098161 | ENSG00000047644.13 | ENST00000454666.1,ENST00000380861.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WWC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509107 | X | 10046838:10046915:10047764:10047844:10058810:10058940 | 10047764:10047844 | ENSG00000047644.13 | ENST00000380861.4,ENST00000454666.1 |
| exon_skip_509109 | X | 10066545:10066619:10077817:10078060:10084457:10084547 | 10077817:10078060 | ENSG00000047644.13 | ENST00000380861.4,ENST00000454666.1 |
| exon_skip_509112 | X | 10084457:10084547:10085163:10085729:10090658:10090779 | 10085163:10085729 | ENSG00000047644.13 | ENST00000380861.4,ENST00000454666.1 |
| exon_skip_509114 | X | 10093063:10093150:10094153:10094346:10096027:10096201 | 10094153:10094346 | ENSG00000047644.13 | ENST00000380861.4,ENST00000454666.1 |
| exon_skip_509116 | X | 10094153:10094346:10096027:10096201:10096596:10096748 | 10096027:10096201 | ENSG00000047644.13 | ENST00000380861.4,ENST00000454666.1 |
| exon_skip_509118 | X | 10096596:10096748:10097995:10098161:10102471:10102636 | 10097995:10098161 | ENSG00000047644.13 | ENST00000380861.4,ENST00000454666.1 |
| 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 WWC3 |
| 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 |
| ENST00000380861 | 10047764 | 10047844 | Frame-shift |
| ENST00000380861 | 10085163 | 10085729 | Frame-shift |
| ENST00000380861 | 10094153 | 10094346 | Frame-shift |
| ENST00000380861 | 10097995 | 10098161 | Frame-shift |
| ENST00000380861 | 10077817 | 10078060 | In-frame |
| ENST00000380861 | 10096027 | 10096201 | 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 |
| ENST00000380861 | 10047764 | 10047844 | Frame-shift |
| ENST00000380861 | 10085163 | 10085729 | Frame-shift |
| ENST00000380861 | 10094153 | 10094346 | Frame-shift |
| ENST00000380861 | 10097995 | 10098161 | Frame-shift |
| ENST00000380861 | 10077817 | 10078060 | In-frame |
| ENST00000380861 | 10096027 | 10096201 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WWC3 |
| 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 |
| ENST00000380861 | 6664 | 1092 | 10077817 | 10078060 | 1123 | 1365 | 244 | 324 |
| ENST00000380861 | 6664 | 1092 | 10096027 | 10096201 | 2498 | 2671 | 702 | 760 |
| 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 |
| ENST00000380861 | 6664 | 1092 | 10077817 | 10078060 | 1123 | 1365 | 244 | 324 |
| ENST00000380861 | 6664 | 1092 | 10096027 | 10096201 | 2498 | 2671 | 702 | 760 |
| 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 |
| Q9ULE0 | 244 | 324 | 1 | 1092 | Chain | ID=PRO_0000244494;Note=Protein WWC3 |
| Q9ULE0 | 244 | 324 | 230 | 344 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULE0 | 702 | 760 | 583 | 1092 | Alternative sequence | ID=VSP_029221;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9ULE0 | 702 | 760 | 1 | 1092 | Chain | ID=PRO_0000244494;Note=Protein WWC3 |
| Q9ULE0 | 702 | 760 | 617 | 706 | Domain | Note=C2 |
| 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 |
| Q9ULE0 | 244 | 324 | 1 | 1092 | Chain | ID=PRO_0000244494;Note=Protein WWC3 |
| Q9ULE0 | 244 | 324 | 230 | 344 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULE0 | 702 | 760 | 583 | 1092 | Alternative sequence | ID=VSP_029221;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9ULE0 | 702 | 760 | 1 | 1092 | Chain | ID=PRO_0000244494;Note=Protein WWC3 |
| Q9ULE0 | 702 | 760 | 617 | 706 | Domain | Note=C2 |
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SNVs in the skipped exons for WWC3 |
| - 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 |
| CESC | TCGA-EK-A2R8-01 | exon_skip_509112 | 10085164 | 10085729 | 10085617 | 10085617 | Frame_Shift_Del | G | - | p.D508fs |
| LGG | TCGA-TM-A7C5-01 | exon_skip_509112 | 10085164 | 10085729 | 10085617 | 10085617 | Frame_Shift_Del | G | - | p.M506fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509114 | 10094154 | 10094346 | 10094173 | 10094173 | Frame_Shift_Del | C | - | p.P646fs |
| KIRP | TCGA-A4-8517-01 | exon_skip_509114 | 10094154 | 10094346 | 10094307 | 10094307 | Frame_Shift_Del | C | - | p.Y689fs |
| BRCA | TCGA-AO-A0J6-01 | exon_skip_509116 | 10096028 | 10096201 | 10096136 | 10096154 | Frame_Shift_Del | GCTGGGTGTGCAGGAGAGA | - | p.G740fs |
| KICH | TCGA-KM-8639-01 | exon_skip_509112 | 10085164 | 10085729 | 10085451 | 10085452 | Frame_Shift_Ins | - | A | p.S451fs |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_509107 | 10047765 | 10047844 | 10047819 | 10047819 | Nonsense_Mutation | G | T | p.E118* |
| SKCM | TCGA-EB-A6QZ-01 | exon_skip_509114 | 10094154 | 10094346 | 10094257 | 10094257 | Nonsense_Mutation | A | T | p.R673* |
| BLCA | TCGA-XF-A9SJ-01 | exon_skip_509114 | 10094154 | 10094346 | 10094307 | 10094307 | Nonsense_Mutation | C | G | p.Y689* |
| GBM | TCGA-19-2625-01 | exon_skip_509116 | 10096028 | 10096201 | 10096087 | 10096087 | Nonsense_Mutation | G | A | p.W722* |
| SKCM | TCGA-FR-A8YC-06 | exon_skip_509118 | 10097996 | 10098161 | 10098002 | 10098002 | Nonsense_Mutation | G | A | p.W813* |
| BLCA | TCGA-DK-AA76-01 | exon_skip_509118 | 10097996 | 10098161 | 10098144 | 10098144 | Nonsense_Mutation | C | T | p.Q861* |
| - 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 |
| HT3_CERVIX | 10085164 | 10085729 | 10085296 | 10085296 | Frame_Shift_Del | G | - | p.Q399fs |
| SW1271_LUNG | 10085164 | 10085729 | 10085446 | 10085446 | Frame_Shift_Del | G | - | p.L449fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10085164 | 10085729 | 10085486 | 10085486 | Frame_Shift_Del | C | - | p.P464fs |
| NCIH2066_LUNG | 10047765 | 10047844 | 10047772 | 10047772 | Missense_Mutation | G | C | p.R102T |
| BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10077818 | 10078060 | 10077889 | 10077889 | Missense_Mutation | G | A | p.R268K |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10077818 | 10078060 | 10077937 | 10077937 | Missense_Mutation | T | G | p.L284R |
| BICR22_UPPER_AERODIGESTIVE_TRACT | 10077818 | 10078060 | 10077990 | 10077990 | Missense_Mutation | G | A | p.E302K |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10077818 | 10078060 | 10078002 | 10078002 | Missense_Mutation | C | T | p.R306C |
| COLO678_LARGE_INTESTINE | 10085164 | 10085729 | 10085193 | 10085193 | Missense_Mutation | C | T | p.S365L |
| CL34_LARGE_INTESTINE | 10085164 | 10085729 | 10085312 | 10085312 | Missense_Mutation | G | A | p.A405T |
| JHUEM7_ENDOMETRIUM | 10085164 | 10085729 | 10085339 | 10085339 | Missense_Mutation | G | A | p.D414N |
| HELA_CERVIX | 10085164 | 10085729 | 10085367 | 10085367 | Missense_Mutation | G | T | p.R423L |
| 647V_URINARY_TRACT | 10085164 | 10085729 | 10085400 | 10085400 | Missense_Mutation | C | T | p.S434L |
| SKMEL30_SKIN | 10085164 | 10085729 | 10085451 | 10085451 | Missense_Mutation | C | T | p.S451L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10085164 | 10085729 | 10085520 | 10085520 | Missense_Mutation | C | G | p.P474R |
| HTCC3_THYROID | 10085164 | 10085729 | 10085709 | 10085709 | Missense_Mutation | C | A | p.A537D |
| IGROV1_OVARY | 10085164 | 10085729 | 10085714 | 10085714 | Missense_Mutation | G | A | p.A539T |
| HEC1_ENDOMETRIUM | 10094154 | 10094346 | 10094183 | 10094183 | Missense_Mutation | A | G | p.D648G |
| NCIH23_LUNG | 10096028 | 10096201 | 10096193 | 10096193 | Missense_Mutation | G | C | p.G758R |
| OC316_OVARY | 10097996 | 10098161 | 10098135 | 10098135 | Missense_Mutation | G | A | p.E858K |
| OC314_OVARY | 10097996 | 10098161 | 10098135 | 10098135 | Missense_Mutation | G | A | p.E858K |
| MZ1PC_PANCREAS | 10085164 | 10085729 | 10085262 | 10085262 | Nonsense_Mutation | C | A | p.S388* |
| LC2AD_LUNG | 10097996 | 10098161 | 10098144 | 10098144 | Nonsense_Mutation | C | T | p.Q861* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WWC3 |
| 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 WWC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WWC3 |
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RelatedDrugs for WWC3 |
| 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 WWC3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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