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Fusion gene ID: 42139 |
FusionGeneSummary for WWTR1_SOX2-OT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: WWTR1_SOX2-OT | Fusion gene ID: 42139 | Hgene | Tgene | Gene symbol | WWTR1 | SOX2-OT | Gene ID | 25937 | 347689 |
| Gene name | WW domain containing transcription regulator 1 | SOX2 overlapping transcript | |
| Synonyms | TAZ | NCRNA00043|SOX2OT | |
| Cytomap | 3q25.1 | 3q26.33 | |
| Type of gene | protein-coding | ncRNA | |
| Description | WW domain-containing transcription regulator protein 1transcriptional co-activator with PDZ-binding motif | SOX2 overlapping transcript (non-coding RNA)SOX2 overlapping transcript (non-protein coding) | |
| Modification date | 20180522 | 20180329 | |
| UniProtAcc | Q9GZV5 | ||
| Ensembl transtripts involved in fusion gene | ENST00000465804, ENST00000360632, ENST00000467467, ENST00000474080, | ENST00000410534, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 10 X 8 X 7=560 |
| # samples | 5 | 10 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/560*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: WWTR1 [Title/Abstract] AND SOX2-OT [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | WWTR1 | GO:0008284 | positive regulation of cell proliferation | 18227151 |
| Hgene | WWTR1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 18227151 |
| Hgene | WWTR1 | GO:0017145 | stem cell division | 18568018 |
| Hgene | WWTR1 | GO:0035329 | hippo signaling | 18227151|20412773 |
| Hgene | WWTR1 | GO:0060390 | regulation of SMAD protein signal transduction | 18568018 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | LUSC | TCGA-68-7755-01A | WWTR1 | chr3 | 149290651 | - | SOX2-OT | chr3 | 181281508 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000465804 | ENST00000410534 | WWTR1 | chr3 | 149290651 | - | SOX2-OT | chr3 | 181281508 | + |
| 5CDS-intron | ENST00000360632 | ENST00000410534 | WWTR1 | chr3 | 149290651 | - | SOX2-OT | chr3 | 181281508 | + |
| 5CDS-intron | ENST00000467467 | ENST00000410534 | WWTR1 | chr3 | 149290651 | - | SOX2-OT | chr3 | 181281508 | + |
| intron-intron | ENST00000474080 | ENST00000410534 | WWTR1 | chr3 | 149290651 | - | SOX2-OT | chr3 | 181281508 | + |
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FusionProtFeatures for WWTR1_SOX2-OT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| WWTR1 | SOX2-OT |
| Transcriptional coactivator which acts as a downstreamregulatory target in the Hippo signaling pathway that plays apivotal role in organ size control and tumor suppression byrestricting proliferation and promoting apoptosis. The core ofthis pathway is composed of a kinase cascade wherein STK3/MST2 andSTK4/MST1, in complex with its regulatory protein SAV1,phosphorylates and activates LATS1/2 in complex with itsregulatory protein MOB1, which in turn phosphorylates andinactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances PAX8and NKX2-1/TTF1-dependent gene activation. Regulates the nuclearaccumulation of SMADS and has a key role in coupling them to thetranscriptional machinery such as the mediator complex. Regulatesembryonic stem-cell self-renewal, promotes cell proliferation andepithelial-mesenchymal transition. {ECO:0000269|PubMed:11118213,ECO:0000269|PubMed:18227151, ECO:0000269|PubMed:18568018,ECO:0000269|PubMed:19010321}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for WWTR1_SOX2-OT |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for WWTR1_SOX2-OT |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| WWTR1 | TEAD4, TEAD3, SLC9A3R2, YWHAE, YWHAZ, YWHAG, KLF5, PPP1CA, TP53BP2, BTRC, YWHAQ, LATS1, NOTCH1, MED28, DVL1, DVL2, DVL3, HIF1A, AMOTL1, AMOT, TEAD1, FBXW11, TEAD2, LATS2, WBP2, TRIM25 | SOX2-OT |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for WWTR1_SOX2-OT |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for WWTR1_SOX2-OT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | WWTR1 | C0026846 | Muscular Atrophy | 1 | CTD_human |
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