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Fusion gene ID: 40792 |
FusionGeneSummary for UNC13B_TAF7L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UNC13B_TAF7L | Fusion gene ID: 40792 | Hgene | Tgene | Gene symbol | UNC13B | TAF7L | Gene ID | 10497 | 54457 |
| Gene name | unc-13 homolog B | TATA-box binding protein associated factor 7 like | |
| Synonyms | MUNC13|UNC13|Unc13h2 | CT40|TAF2Q | |
| Cytomap | 9p13.3 | Xq22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein unc-13 homolog Bhomolog of rat Munc13 (diacylglycerol-binding)munc13-2unc-13-like | transcription initiation factor TFIID subunit 7-likeRNA polymerase II TBP-associated factor subunit QTAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDaTATA box-binding protein-associated factor 50 kDaTBP-associated fa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O14795 | Q5H9L4 | |
| Ensembl transtripts involved in fusion gene | ENST00000396787, ENST00000378495, ENST00000378496, ENST00000481299, | ENST00000372907, ENST00000372905, ENST00000324762, ENST00000356784, | |
| Fusion gene scores | * DoF score | 9 X 6 X 6=324 | 1 X 1 X 1=1 |
| # samples | 9 | 1 | |
| ** MAII score | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: UNC13B [Title/Abstract] AND TAF7L [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 | UNC13B | GO:0043065 | positive regulation of apoptotic process | 10233166 |
| Hgene | UNC13B | GO:0050714 | positive regulation of protein secretion | 19641095 |
| Hgene | UNC13B | GO:0071333 | cellular response to glucose stimulus | 19641095 |
| 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 | RV | LUAD | TCGA-05-4382-01A | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| * 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 |
| Frame-shift | ENST00000396787 | ENST00000372907 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| In-frame | ENST00000396787 | ENST00000372905 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000396787 | ENST00000324762 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000396787 | ENST00000356784 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000378495 | ENST00000372907 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| In-frame | ENST00000378495 | ENST00000372905 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000378495 | ENST00000324762 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000378495 | ENST00000356784 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000378496 | ENST00000372907 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| In-frame | ENST00000378496 | ENST00000372905 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000378496 | ENST00000324762 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| Frame-shift | ENST00000378496 | ENST00000356784 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| intron-3CDS | ENST00000481299 | ENST00000372907 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| intron-3CDS | ENST00000481299 | ENST00000372905 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| intron-3CDS | ENST00000481299 | ENST00000324762 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
| intron-3CDS | ENST00000481299 | ENST00000356784 | UNC13B | chr9 | 35162302 | + | TAF7L | chrX | 100524225 | - |
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FusionProtFeatures for UNC13B_TAF7L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UNC13B | TAF7L |
| Plays a role in vesicle maturation during exocytosis asa target of the diacylglycerol second messenger pathway. Isinvolved in neurotransmitter release by acting in synaptic vesiclepriming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP).Essential for synaptic vesicle maturation in a subset ofexcitatory/glutamatergic but not inhibitory/GABA-mediated synapses(By similarity). {ECO:0000250}. | Probably functions as a spermatogensis-specificcomponent of the DNA-binding general transcription factor complexTFIID, a multimeric protein complex that plays a central role inmediating promoter responses to various activators and repressors.May play a role in spermatogenesis (By similarity). {ECO:0000250}. |
| 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 UNC13B_TAF7L |
| 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. |
| >In-frame_UNC13B_ENST00000396787_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_22aa >In-frame_UNC13B_ENST00000378495_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_22aa >In-frame_UNC13B_ENST00000378496_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_22aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_UNC13B_ENST00000396787_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_67nt >In-frame_UNC13B_ENST00000378495_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_67nt >In-frame_UNC13B_ENST00000378496_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_67nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_UNC13B_ENST00000396787_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_1288nt GGGAGGGAGTCCCGGCAGCTCCTACCTCCCAGCGATGGCGTCGCTGTGCCGCGCCCAGTCCCCAGCCTGCCGGCCGGTACTCACCGCTAC CCGGAGTTCGCTCAGACGGTGAGATTTGGGGCGGGTCCGAGGCAGCGGCGGGACGCTACCTGCGACCGGGACCATGAGGAGCTGCCAGAC CCGTGGGGCCGGTAACGAGAGCAGTCGCGGCACCTGCTGAGAGGAAAGAGGGAGCGGTCCGGCGCGGCTGGGGCGCGGCAGAGGCTTGCC CGATCCTCGGCCATGTCACTGCTCTGCGTGCGCGCTCATTTCCCTACAGGAACAGTTGCAGCGTTTTCTGAAGAAGTGAGGAGAGCCATT GGCGTGGCCCACAAACCTTGGATTCACCATCCAGACTGCAGATTGGATGAAACTGTGCACGTTTTTGTCCCTTCAGTTGCCTTATGTTGA ATCAGTTATATTTATCTGTACCTTCTTTGCTACTTAAAATATGCTCACAGTTTGTAGTCATGTAGAAAAGGCCAGTATAAAAATGTAGTA GACTTAAAGACCCCACTCGACCATGAGACTTTCTCTTTGTCAATTTGGGAATTATTATTATTAATTTAGAAATGGGGTCTTGTTATGTTG CCCAGGCTGAATTCAGACTCCTGGGCTTAAGGGATCCTTCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGTGCACCACCACACCA AACAAGAATTGATTATATTGCTTCTGTGCTATGGTACCAGCAGATTATTCAGCCATGCTTCTAAAGGCAGTCTAGCCTAGAGGCCGTACA GCTGTTTGGTTTGCATATGTTTTAGCTTTTCTTTTGGTTTTTAGTATTTCCTAAAACATAGGGGAAAAAACGAGGTCATTTCTACTAAGC ACTAGGACCTGCCATAGTGAGTTTAAGTGCCTACCTTGCAGCAGTTAATACTAGATTGTGTTCTGTCTCTGTTCAGGTAACAGGACTGCA TTCCTGCTCAAGGATGATTCCTTGCTGCTGCTTATGTTCTGTTGTTTTTAGGATGGAGCTGGTTGTTATTCACCAACTAAGGGAACAGTT AGAGCAGAGATGAAGAAATTATGAACTGTTATCCTTATTCTGAGCCTTCTCCTCCTAACCCTCATCAGTTAAGGTTAGGAAGAACAAGAT GCCATAATGCCTATGAAGACTTCTTTAACAATCTTGTTTGGGTTTTTTTCTAGGTATATTATTAGTGTTTTATGGTCTATGTTCTTTAAG >In-frame_UNC13B_ENST00000378495_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_1228nt CCCAGCCTGCCGGCCGGTACTCACCGCTACCCGGAGTTCGCTCAGACGGTGAGATTTGGGGCGGGTCCGAGGCAGCGGCGGGACGCTACC TGCGACCGGGACCATGAGGAGCTGCCAGACCCGTGGGGCCGGTAACGAGAGCAGTCGCGGCACCTGCTGAGAGGAAAGAGGGAGCGGTCC GGCGCGGCTGGGGCGCGGCAGAGGCTTGCCCGATCCTCGGCCATGTCACTGCTCTGCGTGCGCGCTCATTTCCCTACAGGAACAGTTGCA GCGTTTTCTGAAGAAGTGAGGAGAGCCATTGGCGTGGCCCACAAACCTTGGATTCACCATCCAGACTGCAGATTGGATGAAACTGTGCAC GTTTTTGTCCCTTCAGTTGCCTTATGTTGAATCAGTTATATTTATCTGTACCTTCTTTGCTACTTAAAATATGCTCACAGTTTGTAGTCA TGTAGAAAAGGCCAGTATAAAAATGTAGTAGACTTAAAGACCCCACTCGACCATGAGACTTTCTCTTTGTCAATTTGGGAATTATTATTA TTAATTTAGAAATGGGGTCTTGTTATGTTGCCCAGGCTGAATTCAGACTCCTGGGCTTAAGGGATCCTTCCGCCTCAGCCTCCTGAGTAG CTGGGACTACAGTTGTGCACCACCACACCAAACAAGAATTGATTATATTGCTTCTGTGCTATGGTACCAGCAGATTATTCAGCCATGCTT CTAAAGGCAGTCTAGCCTAGAGGCCGTACAGCTGTTTGGTTTGCATATGTTTTAGCTTTTCTTTTGGTTTTTAGTATTTCCTAAAACATA GGGGAAAAAACGAGGTCATTTCTACTAAGCACTAGGACCTGCCATAGTGAGTTTAAGTGCCTACCTTGCAGCAGTTAATACTAGATTGTG TTCTGTCTCTGTTCAGGTAACAGGACTGCATTCCTGCTCAAGGATGATTCCTTGCTGCTGCTTATGTTCTGTTGTTTTTAGGATGGAGCT GGTTGTTATTCACCAACTAAGGGAACAGTTAGAGCAGAGATGAAGAAATTATGAACTGTTATCCTTATTCTGAGCCTTCTCCTCCTAACC CTCATCAGTTAAGGTTAGGAAGAACAAGATGCCATAATGCCTATGAAGACTTCTTTAACAATCTTGTTTGGGTTTTTTTCTAGGTATATT >In-frame_UNC13B_ENST00000378496_chr9_35162302_+_TAF7L_ENST00000372905_chrX_100524225_-_1186nt CAGACGGTGAGATTTGGGGCGGGTCCGAGGCAGCGGCGGGACGCTACCTGCGACCGGGACCATGAGGAGCTGCCAGACCCGTGGGGCCGG TAACGAGAGCAGTCGCGGCACCTGCTGAGAGGAAAGAGGGAGCGGTCCGGCGCGGCTGGGGCGCGGCAGAGGCTTGCCCGATCCTCGGCC ATGTCACTGCTCTGCGTGCGCGCTCATTTCCCTACAGGAACAGTTGCAGCGTTTTCTGAAGAAGTGAGGAGAGCCATTGGCGTGGCCCAC AAACCTTGGATTCACCATCCAGACTGCAGATTGGATGAAACTGTGCACGTTTTTGTCCCTTCAGTTGCCTTATGTTGAATCAGTTATATT TATCTGTACCTTCTTTGCTACTTAAAATATGCTCACAGTTTGTAGTCATGTAGAAAAGGCCAGTATAAAAATGTAGTAGACTTAAAGACC CCACTCGACCATGAGACTTTCTCTTTGTCAATTTGGGAATTATTATTATTAATTTAGAAATGGGGTCTTGTTATGTTGCCCAGGCTGAAT TCAGACTCCTGGGCTTAAGGGATCCTTCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGTGCACCACCACACCAAACAAGAATTGA TTATATTGCTTCTGTGCTATGGTACCAGCAGATTATTCAGCCATGCTTCTAAAGGCAGTCTAGCCTAGAGGCCGTACAGCTGTTTGGTTT GCATATGTTTTAGCTTTTCTTTTGGTTTTTAGTATTTCCTAAAACATAGGGGAAAAAACGAGGTCATTTCTACTAAGCACTAGGACCTGC CATAGTGAGTTTAAGTGCCTACCTTGCAGCAGTTAATACTAGATTGTGTTCTGTCTCTGTTCAGGTAACAGGACTGCATTCCTGCTCAAG GATGATTCCTTGCTGCTGCTTATGTTCTGTTGTTTTTAGGATGGAGCTGGTTGTTATTCACCAACTAAGGGAACAGTTAGAGCAGAGATG AAGAAATTATGAACTGTTATCCTTATTCTGAGCCTTCTCCTCCTAACCCTCATCAGTTAAGGTTAGGAAGAACAAGATGCCATAATGCCT ATGAAGACTTCTTTAACAATCTTGTTTGGGTTTTTTTCTAGGTATATTATTAGTGTTTTATGGTCTATGTTCTTTAAGCAATAAATAAAT |
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FusionGenePPI for UNC13B_TAF7L |
| 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 |
| UNC13B | STX1A, SPTBN2, RPH3AL, STX1B, RIMS1, DOC2A, VAMP2, SNAP25, WDR48, BARD1, ECT2, RAB27A, CLK1, UBXN10, CCDC40, DIRAS2, PTPN4 | TAF7L | TBP, TAF1, TAF13, APP, SRPK2, TAF3, TAF9B, TAF2, TAF11, TAF6, TAF5, TAF4B, TAF9, TAF8, TAF4, TAF12, TAF10, UTP6, PSME4, C18orf25 |
| - 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 UNC13B_TAF7L |
| 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 UNC13B_TAF7L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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