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Fusion gene ID: 37100 |
FusionGeneSummary for TAF2_UPF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TAF2_UPF2 | Fusion gene ID: 37100 | Hgene | Tgene | Gene symbol | TAF2 | UPF2 | Gene ID | 6873 | 26019 |
| Gene name | TATA-box binding protein associated factor 2 | UPF2, regulator of nonsense mediated mRNA decay | |
| Synonyms | CIF150|MRT40|TAF2B|TAFII150 | HUPF2|RENT2|smg-3 | |
| Cytomap | 8q24.12 | 10p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription initiation factor TFIID subunit 2150 kDa cofactor of initiator functionRNA polymerase II TBP-associated factor subunit BTAF(II)150TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDaTATA box binding protein ( | regulator of nonsense transcripts 2FRS2/UPF2/LEMD3 fusionLEMD3/UPF2 fusionUPF2 regulator of nonsense transcripts homolognonsense mRNA reducing factor 2smg-3 homolog, nonsense mediated mRNA decay factorup-frameshift suppressor 2 homologyeast Upf2p h | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q6P1X5 | Q9HAU5 | |
| Ensembl transtripts involved in fusion gene | ENST00000378164, ENST00000519355, | ENST00000356352, ENST00000357604, ENST00000397053, ENST00000460569, | |
| Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 5 X 7 X 3=105 |
| # samples | 6 | 10 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/105*10)=-0.070389327891398 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TAF2 [Title/Abstract] AND UPF2 [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 | TAF2 | GO:0006367 | transcription initiation from RNA polymerase II promoter | 9418870 |
| 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 | AW994843 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| * 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 | ENST00000378164 | ENST00000356352 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| intron-3UTR | ENST00000378164 | ENST00000357604 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| intron-3UTR | ENST00000378164 | ENST00000397053 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| intron-intron | ENST00000378164 | ENST00000460569 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| intron-3UTR | ENST00000519355 | ENST00000356352 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| intron-3UTR | ENST00000519355 | ENST00000357604 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| intron-3UTR | ENST00000519355 | ENST00000397053 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
| intron-intron | ENST00000519355 | ENST00000460569 | TAF2 | chr8 | 120832199 | + | UPF2 | chr10 | 11962235 | + |
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FusionProtFeatures for TAF2_UPF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TAF2 | UPF2 |
| Transcription factor TFIID is one of the general factorsrequired for accurate and regulated initiation by RNA polymeraseII. TFIID is a multimeric protein complex that plays a centralrole in mediating promoter responses to various activators andrepressors. It requires core promoter-specific cofactors forproductive transcription stimulation. TAF2 stabilizes TFIIDbinding to core promoter. {ECO:0000269|PubMed:9418870,ECO:0000269|PubMed:9774672}. |
| 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 TAF2_UPF2 |
| 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 TAF2_UPF2 |
| 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 TAF2_UPF2 |
| 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 TAF2_UPF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TAF2 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
| Hgene | TAF2 | C3810080 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | 1 | ORPHANET;UNIPROT |
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