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Fusion gene ID: 40272 |
FusionGeneSummary for U2AF2_NLRP9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: U2AF2_NLRP9 | Fusion gene ID: 40272 | Hgene | Tgene | Gene symbol | U2AF2 | NLRP9 | Gene ID | 11338 | 338321 |
| Gene name | U2 small nuclear RNA auxiliary factor 2 | NLR family pyrin domain containing 9 | |
| Synonyms | U2AF65 | CLR19.1|NALP9|NOD6|PAN12 | |
| Cytomap | 19q13.42 | 19q13.42 | |
| Type of gene | protein-coding | protein-coding | |
| Description | splicing factor U2AF 65 kDa subunitU2 (RNU2) small nuclear RNA auxiliary factor 2U2 auxiliary factor 65 kDa subunitU2 small nuclear ribonucleoprotein auxiliary factor (65kD)U2 snRNP auxiliary factor large subunithU2AF65 | NACHT, LRR and PYD domains-containing protein 9NACHT, LRR and PYD containing protein 9NACHT, leucine rich repeat and PYD containing 9PYRIN and NACHT-containing protein 12nucleotide-binding oligomerization domain protein 6nucleotide-binding oligomeriz | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P26368 | Q7RTR0 | |
| Ensembl transtripts involved in fusion gene | ENST00000450554, ENST00000308924, ENST00000590551, | ENST00000332836, | |
| Fusion gene scores | * DoF score | 9 X 10 X 5=450 | 4 X 4 X 4=64 |
| # samples | 10 | 4 | |
| ** MAII score | log2(10/450*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: U2AF2 [Title/Abstract] AND NLRP9 [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 | U2AF2 | GO:0000398 | mRNA splicing, via spliceosome | 1824937 |
| Hgene | U2AF2 | GO:0031397 | negative regulation of protein ubiquitination | 24389012 |
| Hgene | U2AF2 | GO:0033120 | positive regulation of RNA splicing | 21536736 |
| Hgene | U2AF2 | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 15009664 |
| 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 | LUSC | TCGA-33-4547-01A | U2AF2 | chr19 | 56181058 | + | NLRP9 | chr19 | 56220410 | - |
| * 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 | ENST00000450554 | ENST00000332836 | U2AF2 | chr19 | 56181058 | + | NLRP9 | chr19 | 56220410 | - |
| Frame-shift | ENST00000308924 | ENST00000332836 | U2AF2 | chr19 | 56181058 | + | NLRP9 | chr19 | 56220410 | - |
| Frame-shift | ENST00000590551 | ENST00000332836 | U2AF2 | chr19 | 56181058 | + | NLRP9 | chr19 | 56220410 | - |
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FusionProtFeatures for U2AF2_NLRP9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| U2AF2 | NLRP9 |
| Plays a role in pre-mRNA splicing and 3'-end processing(PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19complex/NTC/Nineteen complex to the RNA polymerase II C-terminaldomain (CTD), and thereby pre-mRNA, may couple transcription tosplicing (PubMed:21536736). Induces cardiac troponin-T (TNNT2)pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5inclusion through competition with MBNL1. Binds preferentially toa single-stranded structure within the polypyrimidine tract ofTNNT2 intron 4 during spliceosome assembly. Required for theexport of mRNA out of the nucleus, even if the mRNA is encoded byan intron-less gene. Represses the splicing of MAPT/Tau exon 10.Positively regulates pre-mRNA 3'-end processing by recruiting theCFIm complex to cleavage and polyadenylation signals(PubMed:17024186). {ECO:0000269|PubMed:15009664,ECO:0000269|PubMed:17024186, ECO:0000269|PubMed:19470458,ECO:0000269|PubMed:19574390, ECO:0000269|PubMed:21536736}. | As the sensor component of the NLRP9 inflammasome, playsa crucial role in innate immunity and inflammation. In response topathogens, including rotavirus, initiates the formation of theinflammasome polymeric complex, made of NLRP9, PYCARD and CASP1.Recruitment of proCASP1 to the inflammasome promotes itsactivation and CASP1-catalyzed IL1B and IL18 maturation andrelease in the extracellular milieu. The active cytokinesstimulate inflammatory responses. Inflammasomes can also inducepyroptosis, an inflammatory form of programmed cell death. NLRP9inflammasome activation may be initiated by DHX9 interaction withviral double-stranded RNA (dsRNA), preferentially to short dsRNAsegments. {ECO:0000269|PubMed:28636595}. |
| 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 U2AF2_NLRP9 |
| 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 U2AF2_NLRP9 |
| 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 |
| U2AF2 | SRPK2, CHIC2, PUF60, DVL2, LURAP1, BEND7, DPPA2, THAP1, SRSF1, KIAA0907, SF1, U2AF1, TCERG1, RNPS1, SRSF11, SCAF11, SF3A2, WT1, GIGYF2, TERF2, RBM39, NOP56, GLIS2, NONO, SFPQ, SMARCAD1, HDGF, SIRT7, CUL3, CUL5, CUL1, COPS5, CAND1, PRPF19, BCAS2, CDC5L, PLRG1, POLR2A, ALYREF, ATXN1, SMAD2, SMAD3, TOP1, SNRNP200, SNRNP70, SRSF9, HNRNPM, HNRNPU, SRSF2, SF3B3, SF3B6, SF3B1, SNRPD1, SRSF5, PRPF6, SNRPA1, SRSF7, SRSF3, CPSF6, PRPF3, HNRNPF, HNRNPH1, HNRNPC, HNRNPK, HNRNPR, DDX5, TPR, SART1, IK, RPL37A, RPL18A, RPL15, THOC6, RPL18, RPL6, RPS24, DDX3X, HNRNPDL, SAP18, SYNCRIP, ZCCHC8, PRKDC, DYNC1H1, TUBB, TARDBP, RRP7A, SEPT2, RRS1, SLIRP, COX7A2L, SEPT7, PHGDH, S100A9, VDAC2, SAFB, POC1A, ESR1, BARD1, SNRPA, CHERP, CCAR1, RBM10, SUGP1, HNRNPA0, DDX17, SAP30BP, RBM4, HNRNPD, QKI, KHDRBS3, KHDRBS1, RBFOX2, RBM5, SMAD5, IL7R, HLA-DMA, SRPK1, SH3RF2, PRPF40A, APBB1, PIN1, TERF1, AES, DACH1, MDM2, CUL7, OBSL1, EZH2, SUZ12, EED, RNF2, LUC7L, LUC7L2, CHD8, HUWE1, PSPC1, RANGAP1, PPIE, PSMA1, PSMA2, PSMA4, PSMA5, PSMB4, NTRK1, EWSR1, HSP90AA1, LAMB3, CERK, MCM2, SNW1, TRA2B, ACIN1, AHNAK, AK2, ANP32A, ANXA1, ANXA2, ANXA5, ANXA6, APOA1, ARHGDIA, ARHGDIB, ARPC1B, ATIC, DDX39B, CHTOP, CALCOCO2, CALM1, CALR, CANX, CAP1, CAPZB, CCT2, CCT6A, CCT8, CDC37, CDV3, CFL1, CLIC1, CLTC, CNN2, CORO1A, DARS, DDX21, DHX15, DHX9, EEF1A1, EEF1A1P5, EEF1D, EEF2, EFTUD2, EIF3A, EIF4A1, EIF4A3, EIF4H, EIF5A, ELAVL1, EPRS, EVL, EZR, FABP5, FAM107B, ESYT1, FBL, FLOT1, FLOT2, FUBP1, SRSF10, GANAB, GBP1, GBP2, GDI2, GLUD1, GMFG, GNAI2, GNB2L1, GOT2, GPI, H2AFJ, SARNP, HCLS1, HINT1, HK1, HMGB1, HMGB2, HN1L, HNRNPA1, HNRNPA2B1, HNRNPA3, HNRNPAB, HNRNPL, HSP90AB1, HSP90B1, HSPA1A, HSPA5, HSPA8, HSPA9, HSPD1, HSPE1, HSPH1, IFI16, ILF2, ILF3, IMPDH2, IQGAP1, KHSRP, KIAA1429, KIFC1, KPNB1, LAP3, LARP1, LASP1, LCP1, LGALS1, LRRC59, LRRFIP1, LSP1, MAPRE1, MATR3, MDH2, MSN, MTHFD1, MVP, NAMPT, NCBP1, NCL, NCOA5, NPM1, NUMA1, NUSAP1, P4HB, PA2G4, PABPC1, PABPC4, PABPN1, PAICS, PARK7, PCBP1, PCNA, PDAP1, PDIA3, PDIA6, PGK1, PHB, PHB2, PKM, PNN, POLDIP3, PPIA, PPIB, PRDX1, PRDX2, PRPF8, PSMD2, PSME1, PSME2, PTBP1, PTPRC, RAB7A, RAC2, RALY, RAN, RBMX, RHOA, RPN1, RUVBL1, S100A6, SAMHD1, SEPT9, SERBP1, SF3A1, SF3B2, SRSF4, SRSF6, SHMT2, SLC25A5, SLC3A2, SLC9A3R1, SND1, SON, SPTAN1, SRRM1, SRRM2, ST13, STAT1, STIP1, TAGLN2, TALDO1, THRAP3, TKT, TLN1, TMPO, TPI1, TRA2A, TRIM28, TUFM, U2AF2, UBA1, UPF1, VCP, VDAC1, WARS, WDR1, XRCC6, YBX1, YWHAE, YWHAZ, ZC3H13, ZYX, CRBN, EGFR, CLASRP, JMJD6, SRSF12, GPATCH8, SCAF1, CLK3, GPATCH11, C1QBP, CLK2, CASC3, ZC3H18, U2SURP, DKC1, ZRANB2, HIST1H2AG, CHCHD10, BCLAF1, DAP3, RPS3A, ZCCHC3, RPF2, MRPS9, RPL10A, INO80B, UBE2A, LMNA | NLRP9 | ABCF3, CAPZA1, PSMD11, PSMD14, PSMD12 |
| - 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 U2AF2_NLRP9 |
| 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 U2AF2_NLRP9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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