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Fusion gene ID: 41691 |
FusionGeneSummary for VWA2_IDE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VWA2_IDE | Fusion gene ID: 41691 | Hgene | Tgene | Gene symbol | VWA2 | IDE | Gene ID | 340706 | 3416 |
| Gene name | von Willebrand factor A domain containing 2 | insulin degrading enzyme | |
| Synonyms | AMACO|CCSP-2|NET42 | INSULYSIN | |
| Cytomap | 10q25.3 | 10q23.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | von Willebrand factor A domain-containing protein 2a domain-containing protein similar to matrilin and collagencolon cancer diagnostic markercolon cancer secreted protein 2 | insulin-degrading enzymeAbeta-degrading proteaseinsulin proteaseinsulinase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q5GFL6 | P14735 | |
| Ensembl transtripts involved in fusion gene | ENST00000603594, ENST00000392982, | ENST00000371581, ENST00000265986, ENST00000496903, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 3=27 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: VWA2 [Title/Abstract] AND IDE [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 | VWA2 | GO:0051260 | protein homooligomerization | 14506275 |
| Tgene | IDE | GO:0006508 | proteolysis | 20082125|21185309 |
| Tgene | IDE | GO:0008340 | determination of adult lifespan | 18448515 |
| Tgene | IDE | GO:0010815 | bradykinin catabolic process | 17613531|21185309 |
| Tgene | IDE | GO:0010992 | ubiquitin recycling | 21185309 |
| Tgene | IDE | GO:0032461 | positive regulation of protein oligomerization | 9830016 |
| Tgene | IDE | GO:0050435 | amyloid-beta metabolic process | 9830016|17613531 |
| Tgene | IDE | GO:0051260 | protein homooligomerization | 17051221 |
| Tgene | IDE | GO:0051603 | proteolysis involved in cellular protein catabolic process | 9830016 |
| Tgene | IDE | GO:1901142 | insulin metabolic process | 18448515 |
| Tgene | IDE | GO:1901143 | insulin catabolic process | 9231799|9830016 |
| 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 | LGG | TCGA-P5-A5EU-01A | VWA2 | chr10 | 116042330 | + | IDE | chr10 | 94297307 | - |
| * 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 |
| 5CDS-intron | ENST00000603594 | ENST00000371581 | VWA2 | chr10 | 116042330 | + | IDE | chr10 | 94297307 | - |
| 5CDS-intron | ENST00000603594 | ENST00000265986 | VWA2 | chr10 | 116042330 | + | IDE | chr10 | 94297307 | - |
| 5CDS-intron | ENST00000603594 | ENST00000496903 | VWA2 | chr10 | 116042330 | + | IDE | chr10 | 94297307 | - |
| 5CDS-intron | ENST00000392982 | ENST00000371581 | VWA2 | chr10 | 116042330 | + | IDE | chr10 | 94297307 | - |
| 5CDS-intron | ENST00000392982 | ENST00000265986 | VWA2 | chr10 | 116042330 | + | IDE | chr10 | 94297307 | - |
| 5CDS-intron | ENST00000392982 | ENST00000496903 | VWA2 | chr10 | 116042330 | + | IDE | chr10 | 94297307 | - |
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FusionProtFeatures for VWA2_IDE |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VWA2 | IDE |
| Plays a role in the cellular breakdown of insulin, IAPP,glucagon, bradykinin, kallidin and other peptides, and therebyplays a role in intercellular peptide signaling. Degrades amyloidformed by APP and IAPP. May play a role in the degradation andclearance of naturally secreted amyloid beta-protein by neuronsand microglia. {ECO:0000269|PubMed:10684867,ECO:0000269|PubMed:17613531, ECO:0000269|PubMed:18986166}. (Microbial infection) The membrane-associated isoformacts as an entry receptor for varicella-zoster virus (VZV).{ECO:0000269|PubMed:17055432, ECO:0000269|PubMed:17553876}. |
| 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 VWA2_IDE |
| 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 VWA2_IDE |
| 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 |
| VWA2 | TRAF2, TUBB7P, TCTEX1D2, UBB, KLF15, HSPA8, WDR47, HSPA2 | IDE | IGF1, IGF2, SIRT4, UCHL5, IFIH1, PEX5, CTTN, CARS, GSPT1, GSPT2, ARFIP1, ATP6V1C1, PAWR, PRMT3, PUS1, SHMT1, SHMT2, STAT1, TBC1D15, PUS7, DCP2, UBC, NES, HOXC9, HYLS1, DOHH, FAM98B, LDHA, LDHB, RPE, SCLY, UQCRC2, NAPRT, PAFAH1B2, PPCS, STAT3, THOP1, NTRK1, AR, NR3C1, NSFL1C, CHCHD2, PPM1K, OPA3, PAK7, COQ9, FAM136A, LYRM4, SPRYD4, CISD3, GPAM, LYRM1, CHCHD1, COQ7, C15orf48, ECI2, ATP5A1, NIT1, XPNPEP3, MTMR14, EYA2, MTMR10, RPGR, SPINK2, PPP1R32, FAM19A3, CTAGE5, TINAG, ARSG, SPINK7, TSSC4, MBP, LEPREL2, EGFL6, PHF7, LIME1, VIM, DKK4, HLA-DPB1, VWCE, CCL23, DEFB1 |
| - 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 VWA2_IDE |
| 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 |
| Tgene | IDE | P14735 | DB00071 | Insulin Pork | Insulin-degrading enzyme | biotech | approved |
| Tgene | IDE | P14735 | DB00030 | Insulin Human | Insulin-degrading enzyme | biotech | approved|investigational |
| Tgene | IDE | P14735 | DB00626 | Bacitracin | Insulin-degrading enzyme | small molecule | approved|vet_approved |
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RelatedDiseases for VWA2_IDE |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | IDE | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Tgene | IDE | C0036341 | Schizophrenia | 1 | PSYGENET |
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