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Fusion gene ID: 40277 |
FusionGeneSummary for U2SURP_PARP9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: U2SURP_PARP9 | Fusion gene ID: 40277 | Hgene | Tgene | Gene symbol | U2SURP | PARP9 | Gene ID | 23350 | 83666 |
| Gene name | U2 snRNP associated SURP domain containing | poly(ADP-ribose) polymerase family member 9 | |
| Synonyms | SR140|fSAPa | ARTD9|BAL|BAL1|MGC:7868 | |
| Cytomap | 3q23 | 3q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | U2 snRNP-associated SURP motif-containing protein140 kDa Ser/Arg-rich domain proteinSer/Arg-rich domain protein, 140 kDaU2-associated SR140 proteinU2-associated protein SR140functional spliceosome-associated protein a | poly [ADP-ribose] polymerase 9ADP-ribosyltransferase diphtheria toxin-like 9PARP-9b aggressive lymphoma proteinpoly (ADP-ribose) polymerase 9 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | O15042 | Q8IXQ6 | |
| Ensembl transtripts involved in fusion gene | ENST00000397933, ENST00000473835, ENST00000493598, | ENST00000477522, ENST00000492382, ENST00000360356, ENST00000471785, ENST00000462315, | |
| Fusion gene scores | * DoF score | 4 X 5 X 2=40 | 1 X 1 X 1=1 |
| # samples | 5 | 1 | |
| ** MAII score | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: U2SURP [Title/Abstract] AND PARP9 [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 |
| Tgene | PARP9 | GO:0006471 | protein ADP-ribosylation | 28525742 |
| Tgene | PARP9 | GO:0043086 | negative regulation of catalytic activity | 27796300 |
| Tgene | PARP9 | GO:0060330 | regulation of response to interferon-gamma | 16809771 |
| 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 | PRAD | TCGA-KK-A6E1-01A | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| * 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 | ENST00000397933 | ENST00000477522 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000397933 | ENST00000492382 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000397933 | ENST00000360356 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000397933 | ENST00000471785 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000397933 | ENST00000462315 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000473835 | ENST00000477522 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000473835 | ENST00000492382 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000473835 | ENST00000360356 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000473835 | ENST00000471785 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000473835 | ENST00000462315 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000493598 | ENST00000477522 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000493598 | ENST00000492382 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000493598 | ENST00000360356 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000493598 | ENST00000471785 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
| Frame-shift | ENST00000493598 | ENST00000462315 | U2SURP | chr3 | 142757802 | + | PARP9 | chr3 | 122255920 | - |
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FusionProtFeatures for U2SURP_PARP9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| U2SURP | PARP9 |
| ADP-ribosyltransferase which, in association with E3ligase DTX3L, plays a role in DNA damage repair and in immuneresponses including interferon-mediated antiviral defenses(PubMed:16809771, PubMed:23230272, PubMed:26479788,PubMed:27796300). Within the complex, enhances DTX3L E3 ligaseactivity which is further enhanced by PARP9 binding to poly(ADP-ribose) (PubMed:28525742). In association with DTX3L and inpresence of E1 and E2 enzymes, mediates NAD(+)-dependent mono-ADP-ribosylation of ubiquitin which prevents ubiquitin conjugation tosubstrates such as histones (PubMed:28525742). During DNA repair,PARP1 recruits PARP9/BAL1-DTX3L complex to DNA damage sites viaPARP9 binding to ribosylated PARP1 (PubMed:23230272). SubsequentPARP1-dependent PARP9/BAL1-DTX3L-mediated ubiquitination promotesthe rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80,and BRCA1 to DNA damage sites (PubMed:23230272, PubMed:28525742).In response to DNA damage, PARP9-DTX3L complex is required forefficient non-homologous end joining (NHEJ); the complex functionis negatively modulated by PARP9 activity (PubMed:28525742).Dispensable for B-cell receptor (BCR) assembly through V(D)Jrecombination and class switch recombination (CSR) (Bysimilarity). In macrophages, positively regulates pro-inflammatorycytokines production in response to IFNG stimulation bysuppressing PARP14-mediated STAT1 ADP-ribosylation and thuspromoting STAT1 phosphorylation (PubMed:27796300). Also suppressesPARP14-mediated STAT6 ADP-ribosylation (PubMed:27796300).{ECO:0000250|UniProtKB:Q8CAS9, ECO:0000269|PubMed:16809771,ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:26479788,ECO:0000269|PubMed:27796300, ECO:0000269|PubMed:28525742}. |
| 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 U2SURP_PARP9 |
| 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 U2SURP_PARP9 |
| 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 |
| U2SURP | SF3A2, MYC, TBC1D4, SIRT7, CUL3, CUL1, COPS5, CAND1, GRK5, MFAP1, ESR1, BARD1, MDC1, PAXIP1, PRPF40A, RBM17, RBM10, RBM5, CTNNBL1, DDX42, TRA2A, LMNA, TERT, TARDBP, RPA3, RPA2, RPA1, WWOX, DROSHA, CUL7, OBSL1, RPS2, RPSA, RPS8, WDFY2, ZRSR2, NTRK1, CHERP, SF3A1, HIST1H3E, MYO1C, SNW1, CDC5L, PLOD1, SNRPE, FGFR2, CSTF2T, U2AF2, JMJD6, HIST1H1T, NCL, CYLD, CD2BP2 | PARP9 | DTX3L, NAA25, RPA3, RPA2, RPA1, PARP1, PARP14, SORT1, STAT1, HIST1H2BJ |
| - 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 U2SURP_PARP9 |
| 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 U2SURP_PARP9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | U2SURP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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