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Fusion Protein:VWA8-RB1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: VWA8-RB1 | FusionPDB ID: 98628 | FusionGDB2.0 ID: 98628 | Hgene | Tgene | Gene symbol | VWA8 | RB1 | Gene ID | 23078 | 5925 |
Gene name | von Willebrand factor A domain containing 8 | RB transcriptional corepressor 1 | |
Synonyms | KIAA0564|P7BP2 | OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110 | |
Cytomap | 13q14.11 | 13q14.2 | |
Type of gene | protein-coding | protein-coding | |
Description | von Willebrand factor A domain-containing protein 8PEX7-binding protein 2 | retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | A3KMH1 | RB1CC1 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000281496, ENST00000379310, ENST00000478987, | ENST00000484879, ENST00000267163, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 12 X 6=936 | 13 X 16 X 11=2288 |
# samples | 13 | 27 | |
** MAII score | log2(13/936*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/2288*10)=-3.08305573972756 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: VWA8 [Title/Abstract] AND RB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | VWA8(42439872)-RB1(48916735), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | VWA8-RB1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. VWA8-RB1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. VWA8-RB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. VWA8-RB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | RB1 | GO:0043550 | regulation of lipid kinase activity | 16286473 |
Tgene | RB1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10783144|12065415|19223331 |
Tgene | RB1 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 25100735 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-BH-A18G-01A | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000379310 | VWA8 | chr13 | 42439872 | - | ENST00000267163 | RB1 | chr13 | 48916735 | + | 5932 | 1494 | 69 | 4016 | 1315 |
ENST00000281496 | VWA8 | chr13 | 42439872 | - | ENST00000267163 | RB1 | chr13 | 48916735 | + | 5968 | 1530 | 12 | 4052 | 1346 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000379310 | ENST00000267163 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + | 0.000158425 | 0.9998416 |
ENST00000281496 | ENST00000267163 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + | 0.000163912 | 0.9998361 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >98628_98628_1_VWA8-RB1_VWA8_chr13_42439872_ENST00000281496_RB1_chr13_48916735_ENST00000267163_length(amino acids)=1346AA_BP=505 MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN IGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRR EIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVI ALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFP MMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASD RFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQK NIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDL VISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNS LGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSA SDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIF HMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDL IKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRL NTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSI IVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTS -------------------------------------------------------------- >98628_98628_2_VWA8-RB1_VWA8_chr13_42439872_ENST00000379310_RB1_chr13_48916735_ENST00000267163_length(amino acids)=1315AA_BP=474 MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVV QHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEK AERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLP FKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLK RFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKG CGKTVIAKNFADTLGYNIEPIMLYQGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLK KYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAV IPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDA RLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIG YIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLS FPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAA DMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYE LMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIP HIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLK -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:42439872/chr13:48916735) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
VWA8 | RB1 |
FUNCTION: Exhibits ATPase activity in vitro. {ECO:0000250|UniProtKB:Q8CC88}. | 1594 |
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- 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 |
Hgene | VWA8 | chr13:42439872 | chr13:48916735 | ENST00000281496 | - | 12 | 26 | 447_454 | 475.0 | 1040.0 | Nucleotide binding | ATP |
Hgene | VWA8 | chr13:42439872 | chr13:48916735 | ENST00000379310 | - | 12 | 45 | 447_454 | 475.0 | 1906.0 | Nucleotide binding | ATP |
Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | 1 | 27 | 860_876 | 88.0 | 929.0 | Motif | Bipartite nuclear localization signal | |
Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | 1 | 27 | 373_579 | 88.0 | 929.0 | Region | Note=Domain A | |
Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | 1 | 27 | 373_771 | 88.0 | 929.0 | Region | Note=Pocket%3B binds T and E1A | |
Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | 1 | 27 | 580_639 | 88.0 | 929.0 | Region | Note=Spacer | |
Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | 1 | 27 | 640_771 | 88.0 | 929.0 | Region | Note=Domain B |
- 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 |
Hgene | VWA8 | chr13:42439872 | chr13:48916735 | ENST00000281496 | - | 12 | 26 | 1714_1896 | 475.0 | 1040.0 | Domain | VWFA |
Hgene | VWA8 | chr13:42439872 | chr13:48916735 | ENST00000379310 | - | 12 | 45 | 1714_1896 | 475.0 | 1906.0 | Domain | VWFA |
Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | 1 | 27 | 10_18 | 88.0 | 929.0 | Compositional bias | Note=Poly-Ala | |
Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | 1 | 27 | 20_29 | 88.0 | 929.0 | Compositional bias | Note=Poly-Pro |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
VWA8 | |
RB1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to VWA8-RB1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to VWA8-RB1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |