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Fusion gene ID: 28857 |
FusionGeneSummary for PRPF19_RAB1B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRPF19_RAB1B | Fusion gene ID: 28857 | Hgene | Tgene | Gene symbol | PRPF19 | RAB1B | Gene ID | 27339 | 81876 |
| Gene name | pre-mRNA processing factor 19 | RAB1B, member RAS oncogene family | |
| Synonyms | NMP200|PRP19|PSO4|SNEV|UBOX4|hPSO4 | - | |
| Cytomap | 11q12.2 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pre-mRNA-processing factor 19PRP19/PSO4 homologPRP19/PSO4 pre-mRNA processing factor 19 homologRING-type E3 ubiquitin transferase PRP19nuclear matrix protein 200nuclear matrix protein NMP200 related to splicing factor PRP19psoralen 4senescence evas | ras-related protein Rab-1Bsmall GTP-binding protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UMS4 | Q9H0U4 | |
| Ensembl transtripts involved in fusion gene | ENST00000227524, | ENST00000311481, ENST00000527397, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 4 X 4 X 2=32 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PRPF19 [Title/Abstract] AND RAB1B [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 | PRPF19 | GO:0000209 | protein polyubiquitination | 11435423 |
| Hgene | PRPF19 | GO:0000244 | spliceosomal tri-snRNP complex assembly | 20595234 |
| Hgene | PRPF19 | GO:0000398 | mRNA splicing, via spliceosome | 20176811 |
| 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 | BRCA | TCGA-A8-A06N-01A | PRPF19 | chr11 | 60658575 | - | RAB1B | chr11 | 66043975 | + |
| * 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 | ENST00000227524 | ENST00000311481 | PRPF19 | chr11 | 60658575 | - | RAB1B | chr11 | 66043975 | + |
| intron-3UTR | ENST00000227524 | ENST00000527397 | PRPF19 | chr11 | 60658575 | - | RAB1B | chr11 | 66043975 | + |
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FusionProtFeatures for PRPF19_RAB1B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRPF19 | RAB1B |
| Ubiquitin-protein ligase which is a core component ofseveral complexes mainly involved pre-mRNA splicing and DNArepair. Core component of the PRP19C/Prp19 complex/NTC/Nineteencomplex which is part of the spliceosome and participates in itsassembly, its remodeling and is required for its activity. Duringassembly of the spliceosome, mediates 'Lys-63'-linkedpolyubiquitination of the U4 spliceosomal protein PRPF3.Ubiquitination of PRPF3 allows its recognition by the U5 componentPRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex(PubMed:20595234). Recruited to RNA polymerase II C-terminaldomain (CTD) and the pre-mRNA, it may also couple thetranscriptional and spliceosomal machineries (PubMed:21536736).The XAB2 complex, which contains PRPF19, is also involved in pre-mRNA splicing, transcription and transcription-coupled repair(PubMed:17981804). Beside its role in pre-mRNA splicing PRPF19, aspart of the PRP19-CDC5L complex, plays a role in the DNA damageresponse/DDR. It is recruited to the sites of DNA damage by theRPA complex where PRPF19 directly ubiquitinates RPA1 and RPA2.'Lys-63'-linked polyubiquitination of the RPA complex allows therecruitment of the ATR-ATRIP complex and the activation of ATR, amaster regulator of the DNA damage response (PubMed:24332808). Mayalso play a role in DNA double-strand break (DSB) repair byrecruiting the repair factor SETMAR to altered DNA(PubMed:18263876). As part of the PSO4 complex may also beinvolved in the DNA interstrand cross-links/ICLs repair process(PubMed:16223718). In addition, may also mediate 'Lys-48'-linkedpolyubiquitination of substrates and play a role in proteasomaldegradation (PubMed:11435423). May play a role in the biogenesisof lipid droplets (By similarity). May play a role in neuraldifferentiation possibly through its function as part of thespliceosome (By similarity). {ECO:0000250|UniProtKB:Q99KP6,ECO:0000250|UniProtKB:Q9JMJ4, ECO:0000269|PubMed:11082287,ECO:0000269|PubMed:11435423, ECO:0000269|PubMed:12960389,ECO:0000269|PubMed:15660529, ECO:0000269|PubMed:16223718,ECO:0000269|PubMed:16332694, ECO:0000269|PubMed:16388800,ECO:0000269|PubMed:17349974, ECO:0000269|PubMed:18263876,ECO:0000269|PubMed:21536736, ECO:0000269|PubMed:24332808,ECO:0000303|PubMed:17981804, ECO:0000303|PubMed:20595234}. | The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different set of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. RAB1B regulates vesicular transport betweenthe endoplasmic reticulum and successive Golgi compartments. Playsa role in the initial events of the autophagic vacuole developmentwhich take place at specialized regions of the endoplasmicreticulum. {ECO:0000269|PubMed:20545908,ECO:0000269|PubMed:9437002}. |
| 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 PRPF19_RAB1B |
| 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 PRPF19_RAB1B |
| 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 |
| PRPF19 | EXOC7, PLRG1, DNTT, CDC5L, SRRM2, SRRM1, CTNNBL1, KPNA2, KPNA1, SETMAR, TADA2A, UBC, EGLN3, EGLN2, PRPF19, PRPF3, HDAC5, YWHAG, PSMA3, SMARCAD1, SF3A2, PSMB4, PSMA2, HNRNPA1, CUL3, CUL1, COPS5, CAND1, APEX1, KIAA0907, U2AF2, BCAS2, POLR2A, CWC15, USB1, PRPF8, SNRPA, SNRPD2, SF3A1, SNRPD1, SRSF1, PRPF4, SNRPA1, PRPF6, SF3B3, SNRNP70, XAB2, SF3A3, SART1, SNRNP200, SRSF5, U2AF1, SF3B6, RBM25, HNRNPM, EFTUD2, RNPS1, DDX5, SRSF11, RBM39, LAMP2, SON, RPS10, UTP14A, VTN, TRIM55, RBM14, SRP14, RPS24, NOTCH1, EIF4A3, MAGOH, FN1, RBM10, RBM5, PRCC, HSPB1, CDC40, DDX42, HSP90AA1, UCHL5, GSTK1, TARDBP, PARK2, SEC13, MEPCE, RPA3, RPA2, RPA1, EXOC3, CSNK2A2, LIN28A, CEP250, CEP57, CEP76, TUBGCP3, VCP, HUWE1, USP4, UBE2D3, ENO1, MOV10, NXF1, CUL7, OBSL1, SUZ12, EED, RNF2, ESR1, CCDC94, KNSTRN, LGALS3, CWC22, DHX8, LTN1, MTCH1, BUD31, C1orf123, DHX15, ISY1, ISY1-RAB43, MTHFD1, PDIA5, UBE2A, RNF113B, RPN1, SF3B1, SNW1, STUB1, UBXN1, USP39, NTRK1, SCARNA22, AHSA1, PRPS1, SNCA, SMC1A, NF2, USP37, LINC00673, PTPN11, PPP4C, GCC1, SENP6, ZDBF2, GPATCH1, CWF19L2, AQR, WDR83, GCFC2, DHX35, CCDC18, CCDC12, TFIP11, CWF19L1, SLMAP, TP53BP2, CRNKL1, SYF2, DGCR14, PPIE, RBM22, ZNF830, STRN, FAM167A, NDEL1, CYLD, AAR2, CD2BP2, EAPP, ECD, INO80B, SLC7A6OS, TSSC4, ZNHIT2, ZNHIT3, DLD, DLST, HSD17B10, PDHA1, TRIM25, BRCA1, LMNA, MTF1 | RAB1B | VHL, GDI1, CHM, GOLGA2, APP, RAB11B, RAB8A, RAB11A, UBL4A, BAG3, SMARCC2, TOMM40L, HSPD1, LSM2, RNH1, EED, GDI2, RAB1A, RAB8B, CHML, BZW2, RABGGTA, RAB33B, RAP1GDS1, ACTL6A, RNF26, ATP1A1, ATP1A3, CCDC47, CYC1, DHRS7B, DNAJA3, ETFA, KDSR, LDHA, LDHB, LDHC, COX2, PDCD6, PHB, AHSA1, ARF1, ATP1B1, ATP1B3, CANX, CDC42, DUT, HSD17B12, NDUFS8, PLIN3, RAB5A, RAB5B, RAB5C, RAP2C, SSRP1, TECR, TMCO1, TOMM40, UQCRC2, UQCRQ, RAB2A, RAB6A, RAB6B, RAB7A, RDH13, RPN1, RPN2, STX12, STX7, TMED2, VAPA, RAB18, VPS52, TRAPPC12, RIC1, COG3, COG7, TRAPPC13, VPS54, CDC73, RAB2B, RABIF, DLST, PDHA1 |
| - 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 PRPF19_RAB1B |
| 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 PRPF19_RAB1B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRPF19 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | RAB1B | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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