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Fusion gene ID: 30333 |
FusionGeneSummary for RANBP2_BMP5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RANBP2_BMP5 | Fusion gene ID: 30333 | Hgene | Tgene | Gene symbol | RANBP2 | BMP5 | Gene ID | 5903 | 653 |
| Gene name | RAN binding protein 2 | bone morphogenetic protein 5 | |
| Synonyms | ADANE|ANE1|IIAE3|NUP358|TRP1|TRP2 | - | |
| Cytomap | 2q13 | 6p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 SUMO-protein ligase RanBP2358 kDa nucleoporinE3 SUMO-protein transferase RanBP2P270acute necrotizing encephalopathy 1 (autosomal dominant)nuclear pore complex protein Nup358nucleoporin 358nucleoporin Nup358ran-binding protein 2transformation-r | bone morphogenetic protein 5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P49792 | P22003 | |
| Ensembl transtripts involved in fusion gene | ENST00000283195, | ENST00000370830, ENST00000446683, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 3 X 2 X 3=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RANBP2 [Title/Abstract] AND BMP5 [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 | RANBP2 | GO:0016925 | protein sumoylation | 17264123|22155184 |
| Tgene | BMP5 | GO:0003323 | type B pancreatic cell development | 11865031 |
| Tgene | BMP5 | GO:0008284 | positive regulation of cell proliferation | 15516325 |
| Tgene | BMP5 | GO:0008285 | negative regulation of cell proliferation | 19584291 |
| Tgene | BMP5 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 11580864 |
| Tgene | BMP5 | GO:0010894 | negative regulation of steroid biosynthetic process | 19584291 |
| Tgene | BMP5 | GO:0032348 | negative regulation of aldosterone biosynthetic process | 19584291 |
| Tgene | BMP5 | GO:0043569 | negative regulation of insulin-like growth factor receptor signaling pathway | 19584291 |
| Tgene | BMP5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15516325 |
| Tgene | BMP5 | GO:0050679 | positive regulation of epithelial cell proliferation | 11865031 |
| Tgene | BMP5 | GO:1900006 | positive regulation of dendrite development | 11580864 |
| Tgene | BMP5 | GO:2000065 | negative regulation of cortisol biosynthetic process | 19584291 |
| 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 | BRCA | TCGA-C8-A12U-01A | RANBP2 | chr2 | 109371715 | + | BMP5 | chr6 | 55659225 | - |
| * 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 | ENST00000283195 | ENST00000370830 | RANBP2 | chr2 | 109371715 | + | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000283195 | ENST00000446683 | RANBP2 | chr2 | 109371715 | + | BMP5 | chr6 | 55659225 | - |
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FusionProtFeatures for RANBP2_BMP5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RANBP2 | BMP5 |
| E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2conjugation by UBE2I (PubMed:11792325, PubMed:12032081,PubMed:15378033, PubMed:22194619, PubMed:15931224). Involved intransport factor (Ran-GTP, karyopherin)-mediated protein importvia the F-G repeat-containing domain which acts as a docking sitefor substrates (PubMed:7775481). Binds single-stranded RNA (invitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Componentof the nuclear export pathway (PubMed:10078529). Specific dockingsite for the nuclear export factor exportin-1 (PubMed:10078529).Sumoylates PML at 'Lys-490' which is essential for the properassembly of PML-NB (PubMed:22155184). Recruits BICD2 to thenuclear envelope and cytoplasmic stacks of nuclear pore complexknown as annulate lamellae during G2 phase of cell cycle(PubMed:20386726). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357,PubMed:23353830). {ECO:0000269|PubMed:11792325,ECO:0000269|PubMed:12032081, ECO:0000269|PubMed:15378033,ECO:0000269|PubMed:15931224, ECO:0000269|PubMed:20386726,ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:22155184,ECO:0000269|PubMed:22194619, ECO:0000269|PubMed:23353830,ECO:0000269|PubMed:7775481, ECO:0000303|PubMed:10078529}. | Induces cartilage and bone formation. |
| 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 RANBP2_BMP5 |
| 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 RANBP2_BMP5 |
| 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 |
| RANBP2 | UBE2I, KPNB1, KPNA1, RAN, OPN1LW, CDC73, AIRE, PARK2, LRPAP1, APC, TAF1, IFT140, AKAP13, FHOD1, ARID4B, CDCA8, HDAC4, RANGAP1, MYC, CALM1, CEBPA, PSMD1, SIRT7, SENP1, TP53, CTNNB1, RAPGEF3, KIFAP3, KIF3A, TOP2B, KIF5B, KIF5C, SP100, NUP214, NUP153, PML, CUL2, NXF1, MATR3, ILF2, EEF1A1, HNRNPK, HNRNPF, HNRNPM, DDX17, SMU1, RRS1, CHMP2A, FLNA, IK, HNRNPH1, DHX15, DHX9, RPS14, TRIM55, PRKDC, M6PR, RRP7A, HSPA1L, ALB, MMS19, LMNA, ADRB2, BAG3, KPNA2, CUL1, SUMO1, SUMO2, NLK, UBTD1, LGR4, CHFR, CUL7, OBSL1, CCDC8, SUZ12, EED, RNF2, BMI1, RANBP2, NUP62, NUSAP1, COMTD1, SCGN, NUP50, RCC1, ZACN, IER2, FBXW11, CLTC, EFTUD2, IPO5, COL4A3BP, HNRNPC, MED13, PRPF8, PTGES3, RALY, RPLP0, SNRNP200, SRRM1, TOP2A, TUBB, UQCRC2, VCP, KIF3B, NUP43, NUP85, NUP107, NUP133, NUP160, NUP35, NUPL1, SEH1L, FOXB1, CRY2, FOXL1, PRMT5, FOXQ1, WAS, UBA2, MCM2, SNW1, CDC5L, NFATC2, ZNF746, CTDSPL2, PPM1D, B2M, TMEM194A, TRAF3IP3, MDM2, TES | BMP5 | HBB, VWA8, ANKRD46 |
| - 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 RANBP2_BMP5 |
| 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 RANBP2_BMP5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RANBP2 | C0018199 | Granuloma, Plasma Cell | 1 | CTD_human |
| Hgene | RANBP2 | C2675556 | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 | 1 | CTD_human;ORPHANET;UNIPROT |
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