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Fusion gene ID: 40784 |
FusionGeneSummary for UNC13A_WBP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UNC13A_WBP2 | Fusion gene ID: 40784 | Hgene | Tgene | Gene symbol | UNC13A | WBP2 | Gene ID | 23025 | 23558 |
| Gene name | unc-13 homolog A | WW domain binding protein 2 | |
| Synonyms | Munc13-1 | DFNB107|GRAMD6|WBP-2 | |
| Cytomap | 19p13.11 | 17q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein unc-13 homolog A | WW domain-binding protein 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UPW8 | Q969T9 | |
| Ensembl transtripts involved in fusion gene | ENST00000519716, ENST00000252773, ENST00000428389, ENST00000551649, ENST00000552293, ENST00000550896, | ENST00000254806, ENST00000585462, ENST00000591399, ENST00000590221, ENST00000344296, ENST00000433525, ENST00000590450, | |
| Fusion gene scores | * DoF score | 3 X 4 X 2=24 | 3 X 3 X 2=18 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/24*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: UNC13A [Title/Abstract] AND WBP2 [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 | UNC13A | GO:1903861 | positive regulation of dendrite extension | 23999003 |
| Tgene | WBP2 | GO:0032570 | response to progesterone | 16772533 |
| Tgene | WBP2 | GO:0033148 | positive regulation of intracellular estrogen receptor signaling pathway | 16772533 |
| Tgene | WBP2 | GO:0043627 | response to estrogen | 16772533 |
| Tgene | WBP2 | GO:0050847 | progesterone receptor signaling pathway | 16772533 |
| 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 |
| ChiTaRS3.1 | AK127106 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| * 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 |
| intron-3UTR | ENST00000519716 | ENST00000254806 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000519716 | ENST00000585462 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000519716 | ENST00000591399 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000519716 | ENST00000590221 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000519716 | ENST00000344296 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000519716 | ENST00000433525 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000519716 | ENST00000590450 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000252773 | ENST00000254806 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000252773 | ENST00000585462 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000252773 | ENST00000591399 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000252773 | ENST00000590221 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000252773 | ENST00000344296 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000252773 | ENST00000433525 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000252773 | ENST00000590450 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000428389 | ENST00000254806 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000428389 | ENST00000585462 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000428389 | ENST00000591399 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000428389 | ENST00000590221 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000428389 | ENST00000344296 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000428389 | ENST00000433525 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000428389 | ENST00000590450 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000551649 | ENST00000254806 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000551649 | ENST00000585462 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000551649 | ENST00000591399 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000551649 | ENST00000590221 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000551649 | ENST00000344296 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000551649 | ENST00000433525 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000551649 | ENST00000590450 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000552293 | ENST00000254806 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000552293 | ENST00000585462 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000552293 | ENST00000591399 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000552293 | ENST00000590221 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000552293 | ENST00000344296 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000552293 | ENST00000433525 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000552293 | ENST00000590450 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000550896 | ENST00000254806 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000550896 | ENST00000585462 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000550896 | ENST00000591399 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-3UTR | ENST00000550896 | ENST00000590221 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000550896 | ENST00000344296 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000550896 | ENST00000433525 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
| intron-intron | ENST00000550896 | ENST00000590450 | UNC13A | chr19 | 17728616 | - | WBP2 | chr17 | 73842294 | - |
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FusionProtFeatures for UNC13A_WBP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UNC13A | WBP2 |
| Plays a role in vesicle maturation during exocytosis asa target of the diacylglycerol second messenger pathway. Involvedin neurotransmitter release by acting in synaptic vesicle primingprior to vesicle fusion and participates in the activity-dependentrefilling of readily releasable vesicle pool (RRP). Essential forsynaptic vesicle maturation in most excitatory/glutamatergic butnot inhibitory/GABA-mediated synapses (By similarity). Alsoinvolved in secretory granule priming in insulin secretion (Bysimilarity). Interacts with FBXO45 (via SRY domain); leading tothe degradation of UNC13A by the proteasome (By similarity). Playsa role in dendrite formation by melanocytes (PubMed:23999003).{ECO:0000250, ECO:0000269|PubMed:23999003}. | Acts as transcriptional coactivator of estrogen andprogesterone receptors (ESR1 and PGR) upon hormone activation(PubMed:16772533). In presence of estrogen, binds to ESR1-responsive promoters (PubMed:16772533). Required for YAP1coactivation function on PGR activity (PubMed:16772533).Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533).Modulates expression of post-synaptic scaffolding proteins viaregulation of ESR1, ESR2 and PGR (By similarity).{ECO:0000250|UniProtKB:P97765, ECO:0000269|PubMed:16772533}. |
| 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 UNC13A_WBP2 |
| 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 UNC13A_WBP2 |
| 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 |
| - 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 UNC13A_WBP2 |
| 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 UNC13A_WBP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | UNC13A | C0002736 | Amyotrophic Lateral Sclerosis | 1 | CTD_human;HPO;ORPHANET |
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