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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 WNT5A |
 Gene summary |
| Gene information | Gene symbol | WNT5A | Gene ID | 7474 |
| Gene name | Wnt family member 5A | |
| Synonyms | hWNT5A | |
| Cytomap | 3p14.3 | |
| Type of gene | protein-coding | |
| Description | protein Wnt-5aWNT-5A proteinwingless-type MMTV integration site family, member 5A | |
| Modification date | 20180523 | |
| UniProtAcc | P41221 | |
| Context | PubMed: WNT5A [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 |
| WNT5A | GO:0000187 | activation of MAPK activity | 20034610 |
| WNT5A | GO:0007223 | Wnt signaling pathway, calcium modulating pathway | 19946729 |
| WNT5A | GO:0007257 | activation of JUN kinase activity | 20034610 |
| WNT5A | GO:0016055 | Wnt signaling pathway | 20034610 |
| WNT5A | GO:0030825 | positive regulation of cGMP metabolic process | 19946729 |
| WNT5A | GO:0032148 | activation of protein kinase B activity | 20034610 |
| WNT5A | GO:0034613 | cellular protein localization | 19177143 |
| WNT5A | GO:0042060 | wound healing | 19878652 |
| WNT5A | GO:0043066 | negative regulation of apoptotic process | 19251946 |
| WNT5A | GO:0045892 | negative regulation of transcription, DNA-templated | 19277043 |
| WNT5A | GO:0048146 | positive regulation of fibroblast proliferation | 19251946 |
| WNT5A | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 18287027 |
| WNT5A | GO:0060340 | positive regulation of type I interferon-mediated signaling pathway | 19399181 |
| WNT5A | GO:0060760 | positive regulation of response to cytokine stimulus | 19399181 |
| WNT5A | GO:0071425 | hematopoietic stem cell proliferation | 9787155 |
| WNT5A | GO:0072201 | negative regulation of mesenchymal cell proliferation | 19878652 |
| WNT5A | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 17976063 |
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Exon skipping events across known transcript of Ensembl for WNT5A 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 WNT5A |
| 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 WNT5A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385144 | 3 | 55504020:55504578:55508364:55508657:55513341:55513592 | 55508364:55508657 | ENSG00000114251.9 | ENST00000474267.1,ENST00000264634.4,ENST00000497027.1 |
| exon_skip_385145 | 3 | 55508364:55508657:55513341:55513592:55514812:55514946 | 55513341:55513592 | ENSG00000114251.9 | ENST00000474267.1,ENST00000264634.4,ENST00000497027.1,ENST00000482079.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WNT5A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385144 | 3 | 55504020:55504578:55508364:55508657:55513341:55513592 | 55508364:55508657 | ENSG00000114251.9 | ENST00000474267.1,ENST00000264634.4,ENST00000497027.1 |
| exon_skip_385145 | 3 | 55508364:55508657:55513341:55513592:55514812:55514946 | 55513341:55513592 | ENSG00000114251.9 | ENST00000474267.1,ENST00000264634.4,ENST00000497027.1,ENST00000482079.1 |
| 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 WNT5A |
| 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 |
| ENST00000264634 | 55508364 | 55508657 | Frame-shift |
| ENST00000474267 | 55508364 | 55508657 | Frame-shift |
| ENST00000264634 | 55513341 | 55513592 | Frame-shift |
| ENST00000474267 | 55513341 | 55513592 | Frame-shift |
| 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 |
| ENST00000264634 | 55508364 | 55508657 | Frame-shift |
| ENST00000474267 | 55508364 | 55508657 | Frame-shift |
| ENST00000264634 | 55513341 | 55513592 | Frame-shift |
| ENST00000474267 | 55513341 | 55513592 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for WNT5A |
| 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 |
| 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 |
| 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 WNT5A |
| - 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 |
| THYM | TCGA-XM-A8R8-01 | exon_skip_385144 | 55508365 | 55508657 | 55508612 | 55508612 | Frame_Shift_Del | A | - | p.V147fs |
| UCEC | TCGA-AP-A0LE-01 | exon_skip_385145 | 55513342 | 55513592 | 55513504 | 55513505 | Frame_Shift_Del | GA | - | p.Q77fs |
| UCEC | TCGA-AP-A0LE-01 | exon_skip_385145 | 55513342 | 55513592 | 55513504 | 55513505 | Frame_Shift_Del | GA | - | p.S76fs |
| PRAD | TCGA-CH-5764-01 | exon_skip_385144 | 55508365 | 55508657 | 55508479 | 55508480 | Frame_Shift_Ins | - | T | p.S190fs |
| BLCA | TCGA-4Z-AA7W-01 | exon_skip_385145 | 55513342 | 55513592 | 55513487 | 55513488 | Frame_Shift_Ins | - | A | p.L82fs |
| - 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 |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55508365 | 55508657 | 55508405 | 55508405 | Missense_Mutation | C | T | p.R215H |
| LOVO_LARGE_INTESTINE | 55508365 | 55508657 | 55508406 | 55508406 | Missense_Mutation | G | T | p.R215S |
| HCT15_LARGE_INTESTINE | 55508365 | 55508657 | 55508423 | 55508423 | Missense_Mutation | C | T | p.G209D |
| MKN74_STOMACH | 55508365 | 55508657 | 55508430 | 55508430 | Missense_Mutation | C | T | p.A207T |
| MKN28_STOMACH | 55508365 | 55508657 | 55508430 | 55508430 | Missense_Mutation | C | T | p.A207T |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55508365 | 55508657 | 55508438 | 55508438 | Missense_Mutation | C | T | p.R204H |
| ABC1_LUNG | 55508365 | 55508657 | 55508457 | 55508457 | Missense_Mutation | C | G | p.D198H |
| NCIH1651_LUNG | 55508365 | 55508657 | 55508518 | 55508518 | Missense_Mutation | C | G | p.W177C |
| R262_CENTRAL_NERVOUS_SYSTEM | 55508365 | 55508657 | 55508541 | 55508541 | Missense_Mutation | G | A | p.P170S |
| U251MG_CENTRAL_NERVOUS_SYSTEM | 55508365 | 55508657 | 55508541 | 55508541 | Missense_Mutation | G | A | p.P170S |
| HCC95_LUNG | 55508365 | 55508657 | 55508547 | 55508547 | Missense_Mutation | C | T | p.A168T |
| SNGM_ENDOMETRIUM | 55508365 | 55508657 | 55508549 | 55508549 | Missense_Mutation | G | A | p.A167V |
| LNCAPCLONEFGC_PROSTATE | 55508365 | 55508657 | 55508550 | 55508550 | Missense_Mutation | C | T | p.A167T |
| SNUC2A_LARGE_INTESTINE | 55508365 | 55508657 | 55508622 | 55508622 | Missense_Mutation | C | T | p.A143T |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55513342 | 55513592 | 55513422 | 55513422 | Missense_Mutation | C | T | p.C104Y |
| SNU1040_LARGE_INTESTINE | 55513342 | 55513592 | 55513429 | 55513429 | Missense_Mutation | T | C | p.K102E |
| SW1573_LUNG | 55513342 | 55513592 | 55513443 | 55513443 | Missense_Mutation | G | A | p.A97V |
| TGBC11TKB_STOMACH | 55513342 | 55513592 | 55513524 | 55513524 | Missense_Mutation | C | T | p.S70N |
| IALM_LUNG | 55508365 | 55508657 | 55508583 | 55508583 | Nonsense_Mutation | C | A | p.E156* |
| KM12_LARGE_INTESTINE | 55513342 | 55513592 | 55513394 | 55513394 | Nonsense_Mutation | C | T | p.W113* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WNT5A |
| 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 WNT5A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WNT5A |
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RelatedDrugs for WNT5A |
| 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 WNT5A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| WNT5A | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| WNT5A | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| WNT5A | C0024121 | Lung Neoplasms | 1 | CTD_human |
| WNT5A | C0265205 | Robinow Syndrome | 1 | ORPHANET;UNIPROT |
| WNT5A | C1720887 | Female Urogenital Diseases | 1 | CTD_human |
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