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Fusion gene ID: 40274 |
FusionGeneSummary for U2AF2_TFE3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: U2AF2_TFE3 | Fusion gene ID: 40274 | Hgene | Tgene | Gene symbol | U2AF2 | TFE3 | Gene ID | 11338 | 7030 |
| Gene name | U2 small nuclear RNA auxiliary factor 2 | transcription factor binding to IGHM enhancer 3 | |
| Synonyms | U2AF65 | RCCP2|RCCX1|TFEA|bHLHe33 | |
| Cytomap | 19q13.42 | Xp11.23 | |
| 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 | transcription factor E3class E basic helix-loop-helix protein 33transcription factor E family, member Atranscription factor for IgH enhancertranscription factor for immunoglobulin heavy-chain enhancer 3 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P26368 | P19532 | |
| Ensembl transtripts involved in fusion gene | ENST00000450554, ENST00000308924, ENST00000590551, | ENST00000315869, ENST00000487451, | |
| Fusion gene scores | * DoF score | 9 X 10 X 5=450 | 10 X 9 X 4=360 |
| # samples | 10 | 19 | |
| ** MAII score | log2(10/450*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/360*10)=-0.921997487998727 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: U2AF2 [Title/Abstract] AND TFE3 [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 | LD | KIRP | TCGA-2Z-A9JO-01A | U2AF2 | chr19 | 56180988 | + | TFE3 | chrX | 48898095 | - |
| * 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 | ENST00000315869 | U2AF2 | chr19 | 56180988 | + | TFE3 | chrX | 48898095 | - |
| 5CDS-intron | ENST00000450554 | ENST00000487451 | U2AF2 | chr19 | 56180988 | + | TFE3 | chrX | 48898095 | - |
| Frame-shift | ENST00000308924 | ENST00000315869 | U2AF2 | chr19 | 56180988 | + | TFE3 | chrX | 48898095 | - |
| 5CDS-intron | ENST00000308924 | ENST00000487451 | U2AF2 | chr19 | 56180988 | + | TFE3 | chrX | 48898095 | - |
| Frame-shift | ENST00000590551 | ENST00000315869 | U2AF2 | chr19 | 56180988 | + | TFE3 | chrX | 48898095 | - |
| 5CDS-intron | ENST00000590551 | ENST00000487451 | U2AF2 | chr19 | 56180988 | + | TFE3 | chrX | 48898095 | - |
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FusionProtFeatures for U2AF2_TFE3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| U2AF2 | TFE3 |
| 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}. | Transcription factor that specifically recognizes andbinds E-box sequences (5'-CANNTG-3'). Efficient DNA-bindingrequires dimerization with itself or with another MiT/TFE familymember such as TFEB or MITF. In association with TFEB, activatesthe expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells andthymus-dependent humoral immunity. Specifically recognizes theMUE3 box, a subset of E-boxes, present in the immunoglobulinenhancer. It also binds very well to a USF/MLTF site. |
| 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_TFE3 |
| 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_TFE3 |
| 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 | TFE3 | AKR1B1, CLTC, PHB2, ACLY, CUL2, EPRS, PFAS, VARS, NEDD8, RPL38, TRIM28, EIF3A, RPA3, E2F3, SMARCE1, MITF, TFE3, SMAD3, SMAD4, TFEC, EWSR1, XPO1, TFEB |
| - 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_TFE3 |
| 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_TFE3 |
| 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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