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Fusion gene ID: 24100 |
FusionGeneSummary for NF1_PDS5B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NF1_PDS5B | Fusion gene ID: 24100 | Hgene | Tgene | Gene symbol | NF1 | PDS5B | Gene ID | 4763 | 23047 |
| Gene name | neurofibromin 1 | PDS5 cohesin associated factor B | |
| Synonyms | NFNS|VRNF|WSS | APRIN|AS3|CG008 | |
| Cytomap | 17q11.2 | 13q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 | sister chromatid cohesion protein PDS5 homolog Bandrogen induced inhibitor of proliferationandrogen-induced proliferation inhibitorandrogen-induced prostate proliferative shutoff-associated protein AS3androgen-induced shutoff 3 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P21359 | Q9NTI5 | |
| Ensembl transtripts involved in fusion gene | ENST00000356175, ENST00000358273, ENST00000431387, ENST00000581113, ENST00000417592, ENST00000444181, | ENST00000315596, | |
| Fusion gene scores | * DoF score | 35 X 18 X 19=11970 | 3 X 3 X 3=27 |
| # samples | 46 | 3 | |
| ** MAII score | log2(46/11970*10)=-4.70164548088649 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NF1 [Title/Abstract] AND PDS5B [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | NF1 | GO:0043547 | positive regulation of GTPase activity | 2121371 |
| Tgene | PDS5B | GO:0008285 | negative regulation of cell proliferation | 10963680 |
| Tgene | PDS5B | GO:0042127 | regulation of cell proliferation | 10963680 |
| 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-E9-A22D-01A | NF1 | chr17 | 29422387 | + | PDS5B | chr13 | 33281071 | + |
| * 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 | ENST00000356175 | ENST00000315596 | NF1 | chr17 | 29422387 | + | PDS5B | chr13 | 33281071 | + |
| Frame-shift | ENST00000358273 | ENST00000315596 | NF1 | chr17 | 29422387 | + | PDS5B | chr13 | 33281071 | + |
| Frame-shift | ENST00000431387 | ENST00000315596 | NF1 | chr17 | 29422387 | + | PDS5B | chr13 | 33281071 | + |
| intron-3CDS | ENST00000581113 | ENST00000315596 | NF1 | chr17 | 29422387 | + | PDS5B | chr13 | 33281071 | + |
| intron-3CDS | ENST00000417592 | ENST00000315596 | NF1 | chr17 | 29422387 | + | PDS5B | chr13 | 33281071 | + |
| intron-3CDS | ENST00000444181 | ENST00000315596 | NF1 | chr17 | 29422387 | + | PDS5B | chr13 | 33281071 | + |
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FusionProtFeatures for NF1_PDS5B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NF1 | PDS5B |
| Stimulates the GTPase activity of Ras. NF1 shows greateraffinity for Ras GAP, but lower specific activity. May be aregulator of Ras activity. {ECO:0000269|PubMed:2121371,ECO:0000269|PubMed:8417346}. | Regulator of sister chromatid cohesion in mitosis whichmay stabilize cohesin complex association with chromatin. Maycouple sister chromatid cohesion during mitosis to DNAreplication. Cohesion ensures that chromosome partitioning isaccurate in both meiotic and mitotic cells and plays an importantrole in DNA repair. Plays a role in androgen-induced proliferativearrest in prostate cells. {ECO:0000269|PubMed:10963680,ECO:0000269|PubMed:15855230, ECO:0000269|PubMed:19696148}. |
| 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 NF1_PDS5B |
| 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 NF1_PDS5B |
| 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 |
| NF1 | HRAS, SMARCA4, POLR2A, TIRAP, SIRT7, VCP, NSFL1C, CAV1, YWHAB, FAF2, NXF1, CCDC8, HLA-DPA1, EFNB2, CD274, TNFSF13B, CA14, SLAMF1, VSIG4, TGOLN2, HTR6, NOSIP, KRAS, CLK1, CDC5L, APP, YWHAH, PML, TRAF6, PTEN, SDC2, EGFR, CD79B, P4HA3, SCN3B, VSIG1, SIGLECL1, EPHA1, FAM174A, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, LRFN1, RTKN, MAST3, DENND1A, SH3PXD2A, SRGAP2, DENND4C, PPM1H, EIF4E2, SIPA1L1, LIMA1, RALGPS2, MAGI1, CBY1, TESK2, CDC25C, DCLK1, GIGYF2, HDAC4, LPIN3, ZNF638, CAMSAP2, NADK, MAPKAP1, SRSF12, RASAL2, SYDE1, KIAA1804, TIAM1, AGAP1, CDC25B, CDK16, SH3RF3, PHLDB2, PLEKHA7, KIF1C, OSBPL6, FAM110B, USP21, NAV1, TANC2, PTPN13, FAM53C, ANKRD34A, STARD13, PTPN14, GAB2, DENND4A, INPP5E, TOP1, TOP2A, TOP3A, NRAS | PDS5B | CDCA5, STAG1, STAG2, SMC3, SMC1A, WFDC5, PDS5A, RAD21, WAPAL, SIRT7, NSMCE2, APP, LAMP2, OBSL1, EED, RNF2, BSG, CD274, SEPT12, LYPD3, SLC30A4, TGOLN2, SCN2B, BRCA2, RAD51, PALB2, CDC45, PCNA, NTRK1, CEP164, GYPB, VIPR2, CHRM4, APLNR, ANK1, SLC15A1, CD70, KIAA1467, SCN3B, HTR2C, MAS1, P2RX5, LPAR4, TRIM25, G3BP1 |
| - 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 NF1_PDS5B |
| 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 NF1_PDS5B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NF1 | C0027831 | Neurofibromatosis 1 | 34 | CTD_human;ORPHANET;UNIPROT |
| Hgene | NF1 | C2931482 | Neurofibromatosis-Noonan syndrome | 5 | CTD_human;ORPHANET;UNIPROT |
| Hgene | NF1 | C0349639 | Juvenile Myelomonocytic Leukemia | 3 | CTD_human;HPO;ORPHANET |
| Hgene | NF1 | C0004114 | Astrocytoma | 2 | CTD_human;HPO |
| Hgene | NF1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| Hgene | NF1 | C0025202 | melanoma | 2 | CTD_human |
| Hgene | NF1 | C0206727 | Nerve Sheath Tumors | 2 | CTD_human |
| Hgene | NF1 | C0001430 | Adenoma | 1 | CTD_human |
| Hgene | NF1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | NF1 | C0016057 | Fibrosarcoma | 1 | CTD_human |
| Hgene | NF1 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | NF1 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | NF1 | C0023186 | Learning Disorders | 1 | CTD_human |
| Hgene | NF1 | C0023827 | liposarcoma | 1 | CTD_human |
| Hgene | NF1 | C0027809 | Neurilemmoma | 1 | CTD_human |
| Hgene | NF1 | C0027830 | neurofibroma | 1 | CTD_human |
| Hgene | NF1 | C0027962 | Melanocytic nevus | 1 | CTD_human |
| Hgene | NF1 | C0031511 | Pheochromocytoma | 1 | CTD_human |
| Hgene | NF1 | C0162678 | Neurofibromatoses | 1 | CTD_human;HPO |
| Hgene | NF1 | C1261473 | Sarcoma | 1 | CTD_human |
| Hgene | NF1 | C1834235 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 1 | CTD_human;UNIPROT |
| Hgene | NF1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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