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Fusion gene ID: 30631 |
FusionGeneSummary for RBBP6_VWF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBBP6_VWF | Fusion gene ID: 30631 | Hgene | Tgene | Gene symbol | RBBP6 | VWF | Gene ID | 5930 | 7450 |
| Gene name | RB binding protein 6, ubiquitin ligase | von Willebrand factor | |
| Synonyms | MY038|P2P-R|PACT|RBQ-1|SNAMA | F8VWF|VWD | |
| Cytomap | 16p12.1 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RBBP6RB-binding Q-protein 1RING-type E3 ubiquitin transferase RBBP6p53-associated cellular protein of testisproliferation potential-related proteinprotein P2P-Rretinoblastoma binding protein 6retinoblastoma-binding Q pro | von Willebrand factorcoagulation factor VIII VWF | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q7Z6E9 | P04275 | |
| Ensembl transtripts involved in fusion gene | ENST00000319715, ENST00000452655, ENST00000381039, ENST00000348022, | ENST00000261405, ENST00000572068, ENST00000545906, | |
| Fusion gene scores | * DoF score | 6 X 6 X 1=36 | 3 X 3 X 2=18 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: RBBP6 [Title/Abstract] AND VWF [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 | RBBP6 | GO:0006511 | ubiquitin-dependent protein catabolic process | 18851979 |
| Tgene | VWF | GO:0007155 | cell adhesion | 10764791 |
| Tgene | VWF | GO:0030168 | platelet activation | 8565074 |
| Tgene | VWF | GO:0031589 | cell-substrate adhesion | 9079671 |
| Tgene | VWF | GO:0051260 | protein homooligomerization | 8874190 |
| 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 |
| ChiTaRS3.1 | BQ016904 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| * 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-3CDS | ENST00000319715 | ENST00000261405 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000319715 | ENST00000572068 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000319715 | ENST00000545906 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-3CDS | ENST00000452655 | ENST00000261405 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000452655 | ENST00000572068 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000452655 | ENST00000545906 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-3CDS | ENST00000381039 | ENST00000261405 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000381039 | ENST00000572068 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000381039 | ENST00000545906 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-3CDS | ENST00000348022 | ENST00000261405 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000348022 | ENST00000572068 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
| intron-intron | ENST00000348022 | ENST00000545906 | RBBP6 | chr16 | 24551469 | - | VWF | chr12 | 6061632 | - |
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FusionProtFeatures for RBBP6_VWF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBBP6 | VWF |
| Important in the maintenance of hemostasis, it promotesadhesion of platelets to the sites of vascular injury by forming amolecular bridge between sub-endothelial collagen matrix andplatelet-surface receptor complex GPIb-IX-V. Also acts as achaperone for coagulation factor VIII, delivering it to the siteof injury, stabilizing its heterodimeric structure and protectingit from premature clearance from plasma. |
| 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 RBBP6_VWF |
| 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 RBBP6_VWF |
| 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 |
| - 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 RBBP6_VWF |
| 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 | VWF | P04275 | DB00025 | Antihemophilic factor, human recombinant | von Willebrand factor | biotech | approved|investigational |
| Tgene | VWF | P04275 | DB11606 | Susoctocog alfa | von Willebrand factor | biotech | approved|investigational |
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RelatedDiseases for RBBP6_VWF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | VWF | C1264040 | von Willebrand Disease, Type 2 | 29 | CTD_human;UNIPROT |
| Tgene | VWF | C0020538 | Hypertensive disease | 3 | CTD_human |
| Tgene | VWF | C1264041 | von Willebrand Disease, Type 3 | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | VWF | C0040053 | Thrombosis | 2 | CTD_human |
| Tgene | VWF | C1264039 | von Willebrand Disease, Type 1 | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | VWF | C0001956 | alcohol use disorder | 1 | PSYGENET |
| Tgene | VWF | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | VWF | C0004238 | Atrial Fibrillation | 1 | CTD_human |
| Tgene | VWF | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
| Tgene | VWF | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | VWF | C0752143 | Intracranial Thrombosis | 1 | CTD_human |
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