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Fusion gene ID: 41695 |
FusionGeneSummary for VWA8_RB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VWA8_RB1 | Fusion gene ID: 41695 | 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 | OSRC|PPP1R130|RB|p105-Rb|pRb|pp110 | |
| Cytomap | 13q14.11 | 13q14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | von Willebrand factor A domain-containing protein 8 | 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 | 20180519 | 20180523 | |
| UniProtAcc | A3KMH1 | P06400 | |
| Ensembl transtripts involved in fusion gene | ENST00000379310, ENST00000281496, ENST00000478987, | ENST00000267163, ENST00000484879, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 7 X 5 X 5=175 |
| # samples | 5 | 8 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/175*10)=-1.12928301694497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: VWA8 [Title/Abstract] AND RB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. 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 |
| 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 |
| 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 | LD | BRCA | TCGA-BH-A18G-01A | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
| * 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 |
| In-frame | ENST00000379310 | ENST00000267163 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
| 5CDS-intron | ENST00000379310 | ENST00000484879 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
| In-frame | ENST00000281496 | ENST00000267163 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
| 5CDS-intron | ENST00000281496 | ENST00000484879 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
| intron-3CDS | ENST00000478987 | ENST00000267163 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
| intron-intron | ENST00000478987 | ENST00000484879 | VWA8 | chr13 | 42439872 | - | RB1 | chr13 | 48916735 | + |
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FusionProtFeatures for VWA8_RB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VWA8 | RB1 |
| Exhibits ATPase activity in vitro.{ECO:0000250|UniProtKB:Q8CC88}. | Key regulator of entry into cell division that acts as atumor suppressor. Promotes G0-G1 transition when phosphorylated byCDK3/cyclin-C. Acts as a transcription repressor of E2F1 targetgenes. The underphosphorylated, active form of RB1 interacts withE2F1 and represses its transcription activity, leading to cellcycle arrest. Directly involved in heterochromatin formation bymaintaining overall chromatin structure and, in particular, thatof constitutive heterochromatin by stabilizing histonemethylation. Recruits and targets histone methyltransferasesSUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptionalrepression. Controls histone H4 'Lys-20' trimethylation. Inhibitsthe intrinsic kinase activity of TAF1. Mediates transcriptionalrepression by SMARCA4/BRG1 by recruiting a histone deacetylase(HDAC) complex to the c-FOS promoter. In resting neurons,transcription of the c-FOS promoter is inhibited by BRG1-dependentrecruitment of a phospho-RB1-HDAC1 repressor complex. Upon calciuminflux, RB1 is dephosphorylated by calcineurin, which leads torelease of the repressor complex (By similarity). In case of viralinfections, interactions with SV40 large T antigen, HPV E7 proteinor adenovirus E1A protein induce the disassembly of RB1-E2F1complex thereby disrupting RB1's activity. {ECO:0000250,ECO:0000269|PubMed:15084261}. |
| 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 |
| Hgene | VWA8 | chr13:42439872 | chr13:48916735 | ENST00000281496 | - | 12 | 26 | 447_454 | 475 | 1040 | Nucleotide binding | ATP |
| Hgene | VWA8 | chr13:42439872 | chr13:48916735 | ENST00000379310 | - | 12 | 45 | 447_454 | 475 | 1906 | Nucleotide binding | ATP |
| Tgene | >RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 870_876 | 88 | 929 | Motif | Nuclear localization signal |
| Tgene | >RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 373_579 | 88 | 929 | Region | Note=Domain A |
| Tgene | >RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 373_771 | 88 | 929 | Region | Note=Pocket%3B binds T and E1A |
| Tgene | >RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 580_639 | 88 | 929 | Region | Note=Spacer |
| Tgene | >RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 640_771 | 88 | 929 | Region | Note=Domain B |
| - 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 |
| Hgene | >VWA8 | chr13:42439872 | chr13:48916735 | ENST00000281496 | - | 12 | 26 | 1714_1896 | 475 | 1040 | Domain | VWFA |
| Hgene | >VWA8 | chr13:42439872 | chr13:48916735 | ENST00000379310 | - | 12 | 45 | 1714_1896 | 475 | 1906 | Domain | VWFA |
| Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 10_18 | 88 | 929 | Compositional bias | Note=Poly-Ala |
| Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 20_29 | 88 | 929 | Compositional bias | Note=Poly-Pro |
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FusionGeneSequence for VWA8_RB1 |
| 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. |
| >In-frame_VWA8_ENST00000379310_chr13_42439872_-_RB1_ENST00000267163_chr13_48916735_+_1316aa MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVV QHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEK AERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLP FKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLK RFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKG CGKTVIAKNFADTLGYNIEPIMLYQGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLK KYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAV IPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDA RLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIG YIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLS FPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAA DMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYE LMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIP HIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLK >In-frame_VWA8_ENST00000281496_chr13_42439872_-_RB1_ENST00000267163_chr13_48916735_+_1316aa MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVV QHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEK AERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLP FKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLK RFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKG CGKTVIAKNFADTLGYNIEPIMLYQGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLK KYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAV IPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDA RLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIG YIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLS FPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAA DMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYE LMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIP HIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_VWA8_ENST00000379310_chr13_42439872_-_RB1_ENST00000267163_chr13_48916735_+_3948nt ATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTG CAGCGCAGGCCGGGTGGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATT GGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTGGCTCAATCTGTAGTT CAGCATCTAAGATGGATAATGCAGAAGGATCTTTTGGGGCAAGATGTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCT ATGCAGTACTTGGAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACCACTGAAACTGATCTCAAACAGCGACGAGAG ATCCGTGCAGGCACAGCCTTTTACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAG GCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAG CGTTACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCC TTGGGCTTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCC TTCAAGGACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTG TGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATG ATGCCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAG CGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCT TCTGTGACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGT TTCATACAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGT TGTGGAAAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGGAGGTTATATTCAA AAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGAAAAAC ATAGAAATCAGTGTCCATAAATTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAG AAGTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAGGACATGTGAACTTATATATTTGACACAACCCAGCAGTTCGATATCTACT GAAATAAATTCTGCATTGGTGCTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAGGGGAAGTATTACAAATGGAAGATGATCTGGTG ATTTCATTTCAGTTAATGCTATGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCATATAAAACAGCTGTT ATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAAAATGATACAAGAATT ATTGAAGTTCTCTGTAAAGAACATGAATGTAATATAGATGAGGTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATGAATTCTCTT GGACTTGTAACATCTAATGGACTTCCAGAGGTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAATAAAGATCTAGATGCA AGATTATTTTTGGATCATGATAAAACTCTTCAGACTGATTCTATAGACAGTTTTGAAACACAGAGAACACCACGAAAAAGTAACCTTGAT GAAGAGGTGAATGTAATTCCTCCACACACTCCAGTTAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTCAGCAAGT GATCAACCTTCAGAAAATCTGATTTCCTATTTTAACAACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGA TACATCTTTAAAGAGAAATTTGCTAAAGCTGTGGGACAGGGTTGTGTCGAAATTGGATCACAGCGATACAAACTTGGAGTTCGCTTGTAT TACCGAGTAATGGAATCCATGCTTAAATCAGAAGAAGAACGATTATCCATTCAAAATTTTAGCAAACTTCTGAATGACAACATTTTTCAT ATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCACATATAGCAGAAGTACATCTCAGAATCTTGATTCTGGAACAGATTTGTCT TTCCCATGGATTCTGAATGTGCTTAATTTAAAAGCCTTTGATTTTTACAAAGTGATCGAAAGTTTTATCAAAGCAGAAGGCAACTTGACA AGAGAAATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAGATTCACCTTTATTTGATCTTATT AAACAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAATAATCACACTGCAGCA GATATGTATCTTTCTCCTGTAAGATCTCCAAAGAAAAAAGGTTCAACTACGCGTGTAAATTCTACTGCAAATGCAGAGACACAAGCAACC TCAGCCTTCCAGACCCAGAAGCCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAAAAGTGTATCGGCTAGCCTATCTCCGGCTAAAT ACACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAA CTCATGAGAGACAGGCATTTGGACCAAATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGACCTTAAATTCAAAATC ATTGTAACAGCATACAAGGATCTTCCTCATGCTGTTCAGGAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATA GTATTCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGCCCCCTACCTTGTCACCAATACCT CACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACCCCTGAAGAGTCCATAT AAAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGAATCTTAGTATCAATTGGTGAATCATTCGGGACTTCTGAG AAGTTCCAGAAAATAAATCAGATGGTATGTAACAGCGACCGTGTGCTCAAAAGAAGTGCTGAAGGAAGCAACCCTCCTAAACCACTGAAA AAACTACGCTTTGATATTGAAGGATCAGATGAAGCAGATGGAAGTAAACATCTCCCAGGAGAGTCCAAATTTCAGCAGAAACTGGCAGAA >In-frame_VWA8_ENST00000281496_chr13_42439872_-_RB1_ENST00000267163_chr13_48916735_+_3948nt ATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTG CAGCGCAGGCCGGGTGGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATT GGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTGGCTCAATCTGTAGTT CAGCATCTAAGATGGATAATGCAGAAGGATCTTTTGGGGCAAGATGTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCT ATGCAGTACTTGGAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACCACTGAAACTGATCTCAAACAGCGACGAGAG ATCCGTGCAGGCACAGCCTTTTACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAG GCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAG CGTTACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCC TTGGGCTTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCC TTCAAGGACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTG TGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATG ATGCCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAG CGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCT TCTGTGACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGT TTCATACAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGT TGTGGAAAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGGAGGTTATATTCAA AAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGAAAAAC ATAGAAATCAGTGTCCATAAATTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAG AAGTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAGGACATGTGAACTTATATATTTGACACAACCCAGCAGTTCGATATCTACT GAAATAAATTCTGCATTGGTGCTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAGGGGAAGTATTACAAATGGAAGATGATCTGGTG ATTTCATTTCAGTTAATGCTATGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCATATAAAACAGCTGTT ATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAAAATGATACAAGAATT ATTGAAGTTCTCTGTAAAGAACATGAATGTAATATAGATGAGGTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATGAATTCTCTT GGACTTGTAACATCTAATGGACTTCCAGAGGTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAATAAAGATCTAGATGCA AGATTATTTTTGGATCATGATAAAACTCTTCAGACTGATTCTATAGACAGTTTTGAAACACAGAGAACACCACGAAAAAGTAACCTTGAT GAAGAGGTGAATGTAATTCCTCCACACACTCCAGTTAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTCAGCAAGT GATCAACCTTCAGAAAATCTGATTTCCTATTTTAACAACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGA TACATCTTTAAAGAGAAATTTGCTAAAGCTGTGGGACAGGGTTGTGTCGAAATTGGATCACAGCGATACAAACTTGGAGTTCGCTTGTAT TACCGAGTAATGGAATCCATGCTTAAATCAGAAGAAGAACGATTATCCATTCAAAATTTTAGCAAACTTCTGAATGACAACATTTTTCAT ATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCACATATAGCAGAAGTACATCTCAGAATCTTGATTCTGGAACAGATTTGTCT TTCCCATGGATTCTGAATGTGCTTAATTTAAAAGCCTTTGATTTTTACAAAGTGATCGAAAGTTTTATCAAAGCAGAAGGCAACTTGACA AGAGAAATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAGATTCACCTTTATTTGATCTTATT AAACAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAATAATCACACTGCAGCA GATATGTATCTTTCTCCTGTAAGATCTCCAAAGAAAAAAGGTTCAACTACGCGTGTAAATTCTACTGCAAATGCAGAGACACAAGCAACC TCAGCCTTCCAGACCCAGAAGCCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAAAAGTGTATCGGCTAGCCTATCTCCGGCTAAAT ACACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAA CTCATGAGAGACAGGCATTTGGACCAAATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGACCTTAAATTCAAAATC ATTGTAACAGCATACAAGGATCTTCCTCATGCTGTTCAGGAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATA GTATTCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGCCCCCTACCTTGTCACCAATACCT CACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACCCCTGAAGAGTCCATAT AAAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGAATCTTAGTATCAATTGGTGAATCATTCGGGACTTCTGAG AAGTTCCAGAAAATAAATCAGATGGTATGTAACAGCGACCGTGTGCTCAAAAGAAGTGCTGAAGGAAGCAACCCTCCTAAACCACTGAAA AAACTACGCTTTGATATTGAAGGATCAGATGAAGCAGATGGAAGTAAACATCTCCCAGGAGAGTCCAAATTTCAGCAGAAACTGGCAGAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_VWA8_ENST00000379310_chr13_42439872_-_RB1_ENST00000267163_chr13_48916735_+_5932nt ACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGACAGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTC CTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGAC AGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTG AAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTGGCTCAATCTGTAGTTCAGCATCTAAGATGGATAATG CAGAAGGATCTTTTGGGGCAAGATGTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCTATGCAGTACTTGGAGCTGACC AAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACCACTGAAACTGATCTCAAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTT TACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAGGCAGAGAGGAATGTTTTGCCT GTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAGCGTTACGACAAACTTCTCCGA GATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTGGGCTTGCCAGTGCCAAGG TATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTCAAGGACCAACTTAAGTTG TTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGTTCCCAAGAATCTTCTACT CTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATGCCAATCAAACATGCAATC CAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGCTTTGAACTTCAAGATTCA GGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCTTCTGTGACCATCCGGATTGCA GATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGTTTCATACAGACTTTGAGCCAT AAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGTTGTGGAAAAACAGTGATCGCT AAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGA ATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGAAAAACATAGAAATCAGTGTCCATAAA TTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAGAAGTATGATGTATTGTTTGCA CTCTTCAGCAAATTGGAAAGGACATGTGAACTTATATATTTGACACAACCCAGCAGTTCGATATCTACTGAAATAAATTCTGCATTGGTG CTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAGGGGAAGTATTACAAATGGAAGATGATCTGGTGATTTCATTTCAGTTAATGCTA TGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCATATAAAACAGCTGTTATACCCATTAATGGTTCACCT CGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAAAGAA CATGAATGTAATATAGATGAGGTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATGAATTCTCTTGGACTTGTAACATCTAATGGA CTTCCAGAGGTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGAT AAAACTCTTCAGACTGATTCTATAGACAGTTTTGAAACACAGAGAACACCACGAAAAAGTAACCTTGATGAAGAGGTGAATGTAATTCCT CCACACACTCCAGTTAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTCAGCAAGTGATCAACCTTCAGAAAATCTG ATTTCCTATTTTAACAACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCTTTAAAGAGAAATTT GCTAAAGCTGTGGGACAGGGTTGTGTCGAAATTGGATCACAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATG CTTAAATCAGAAGAAGAACGATTATCCATTCAAAATTTTAGCAAACTTCTGAATGACAACATTTTTCATATGTCTTTATTGGCGTGCGCT CTTGAGGTTGTAATGGCCACATATAGCAGAAGTACATCTCAGAATCTTGATTCTGGAACAGATTTGTCTTTCCCATGGATTCTGAATGTG CTTAATTTAAAAGCCTTTGATTTTTACAAAGTGATCGAAAGTTTTATCAAAGCAGAAGGCAACTTGACAAGAGAAATGATAAAACATTTA GAACGATGTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAGATTCACCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAA GGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAATAATCACACTGCAGCAGATATGTATCTTTCTCCTGTA AGATCTCCAAAGAAAAAAGGTTCAACTACGCGTGTAAATTCTACTGCAAATGCAGAGACACAAGCAACCTCAGCCTTCCAGACCCAGAAG CCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAAAAGTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCTTCTG TCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAACTCATGAGAGACAGGCATTTG GACCAAATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGACCTTAAATTCAAAATCATTGTAACAGCATACAAGGAT CTTCCTCATGCTGTTCAGGAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTATAACTCGGTCTTC ATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGCCCCCTACCTTGTCACCAATACCTCACATTCCTCGAAGCCCTTAC AAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACCCCTGAAGAGTCCATATAAAATTTCAGAAGGTCTGCCA ACACCAACAAAAATGACTCCAAGATCAAGAATCTTAGTATCAATTGGTGAATCATTCGGGACTTCTGAGAAGTTCCAGAAAATAAATCAG ATGGTATGTAACAGCGACCGTGTGCTCAAAAGAAGTGCTGAAGGAAGCAACCCTCCTAAACCACTGAAAAAACTACGCTTTGATATTGAA GGATCAGATGAAGCAGATGGAAGTAAACATCTCCCAGGAGAGTCCAAATTTCAGCAGAAACTGGCAGAAATGACTTCTACTCGAACACGA ATGCAAAAGCAGAAAATGAATGATAGCATGGATACCTCAAACAAGGAAGAGAAATGAGGATCTCAGGACCTTGGTGGACACTGTGTACAC CTCTGGATTCATTGTCTCTCACAGATGTGACTGTATAACTTTCCCAGGTTCTGTTTATGGCCACATTTAATATCTTCAGCTCTTTTTGTG GATATAAAATGTGCAGATGCAATTGTTTGGGTGATTCCTAAGCCACTTGAAATGTTAGTCATTGTTATTTATACAAGATTGAAAATCTTG TGTAAATCCTGCCATTTAAAAAGTTGTAGCAGATTGTTTCCTCTTCCAAAGTAAAATTGCTGTGCTTTATGGATAGTAAGAATGGCCCTA GAGTGGGAGTCCTGATAACCCAGGCCTGTCTGACTACTTTGCCTTCTTTTGTAGCATATAGGTGATGTTTGCTCTTGTTTTTATTAATTT ATATGTATATTTTTTTAATTTAACATGAACACCCTTAGAAAATGTGTCCTATCTATCTTCCAAATGCAATTTGATTGACTGCCCATTCAC CAAAATTATCCTGAACTCTTCTGCAAAAATGGATATTATTAGAAATTAGAAAAAAATTACTAATTTTACACATTAGATTTTATTTTACTA TTGGAATCTGATATACTGTGTGCTTGTTTTATAAAATTTTGCTTTTAATTAAATAAAAGCTGGAAGCAAAGTATAACCATATGATACTAT CATACTACTGAAACAGATTTCATACCTCAGAATGTAAAAGAACTTACTGATTATTTTCTTCATCCAACTTATGTTTTTAAATGAGGATTA TTGATAGTACTCTTGGTTTTTATACCATTCAGATCACTGAATTTATAAAGTACCCATCTAGTACTTGAAAAAGTAAAGTGTTCTGCCAGA TCTTAGGTATAGAGGACCCTAACACAGTATATCCCAAGTGCACTTTCTAATGTTTCTGGGTCCTGAAGAATTAAGATACAAATTAATTTT ACTCCATAAACAGACTGTTAATTATAGGAGCCTTAATTTTTTTTTCATAGAGATTTGTCTAATTGCATCTCAAAATTATTCTGCCCTCCT TAATTTGGGAAGGTTTGTGTTTTCTCTGGAATGGTACATGTCTTCCATGTATCTTTTGAACTGGCAATTGTCTATTTATCTTTTATTTTT TTAAGTCAGTATGGTCTAACACTGGCATGTTCAAAGCCACATTATTTCTAGTCCAAAATTACAAGTAATCAAGGGTCATTATGGGTTAGG CATTAATGTTTCTATCTGATTTTGTGCAAAAGCTTCAAATTAAAACAGCTGCATTAGAAAAAGAGGCGCTTCTCCCCTCCCCTACACCTA AAGGTGTATTTAAACTATCTTGTGTGATTAACTTATTTAGAGATGCTGTAACTTAAAATAGGGGATATTTAAGGTAGCTTCAGCTAGCTT TTAGGAAAATCACTTTGTCTAACTCAGAATTATTTTTAAAAAGAAATCTGGTCTTGTTAGAAAACAAAATTTTATTTTGTGCTCATTTAA GTTTCAAACTTACTATTTTGACAGTTATTTTGATAACAATGACACTAGAAAACTTGACTCCATTTCATCATTGTTTCTGCATGAATATCA TACAAATCAGTTAGTTTTTAGGTCAAGGGCTTACTATTTCTGGGTCTTTTGCTACTAAGTTCACATTAGAATTAGTGCCAGAATTTTAGG AACTTCAGAGATCGTGTATTGAGATTTCTTAAATAATGCTTCAGATATTATTGCTTTATTGCTTTTTTGTATTGGTTAAAACTGTACATT TAAAATTGCTATGTTACTATTTTCTACAATTAATAGTTTGTCTATTTTAAAATAAATTAGTTGTTAAGAGTCTTAATGGTCTGATGTTGT >In-frame_VWA8_ENST00000281496_chr13_42439872_-_RB1_ENST00000267163_chr13_48916735_+_5968nt AGGTGCCGCTTCCTGTCCCCTTCTCCGCGCTGCCTCACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGAC AGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTC CTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGT GATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTG GCTCAATCTGTAGTTCAGCATCTAAGATGGATAATGCAGAAGGATCTTTTGGGGCAAGATGTTTTTCTAATAGGACCTCCTGGGCCTCTT CGACGCTCTATTGCTATGCAGTACTTGGAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACCACTGAAACTGATCTC AAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTTTACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTG GAAGGTTTGGAAAAGGCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTC CTGATGTCTGCTGAGCGTTACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAAT TTCCGAGTGATTGCCTTGGGCTTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGAT ATTTATTATTTACCCTTCAAGGACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCC TTTGCCACAACTCTGTGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTG GATTCCTTTCCTATGATGCCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTG GAAGGTGTTTTAAAGCGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAAC CATGTGTCCCAAGCTTCTGTGACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCT TGTGCGTCAGACCGTTTCATACAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTA ATTGGAGGAAAGGGTTGTGGAAAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAG GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACT GAGCTACAGAAAAACATAGAAATCAGTGTCCATAAATTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATG TCAAGACTGTTGAAGAAGTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAGGACATGTGAACTTATATATTTGACACAACCCAGC AGTTCGATATCTACTGAAATAAATTCTGCATTGGTGCTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAGGGGAAGTATTACAAATG GAAGATGATCTGGTGATTTCATTTCAGTTAATGCTATGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCA TATAAAACAGCTGTTATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAA AATGATACAAGAATTATTGAAGTTCTCTGTAAAGAACATGAATGTAATATAGATGAGGTGAAAAATGTTTATTTCAAAAATTTTATACCT TTTATGAATTCTCTTGGACTTGTAACATCTAATGGACTTCCAGAGGTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAAT AAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGACTGATTCTATAGACAGTTTTGAAACACAGAGAACACCACGA AAAAGTAACCTTGATGAAGAGGTGAATGTAATTCCTCCACACACTCCAGTTAGGACTGTTATGAACACTATCCAACAATTAATGATGATT TTAAATTCAGCAAGTGATCAACCTTCAGAAAATCTGATTTCCTATTTTAACAACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGA GTGAAGGATATAGGATACATCTTTAAAGAGAAATTTGCTAAAGCTGTGGGACAGGGTTGTGTCGAAATTGGATCACAGCGATACAAACTT GGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGAAGAAGAACGATTATCCATTCAAAATTTTAGCAAACTTCTGAAT GACAACATTTTTCATATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCACATATAGCAGAAGTACATCTCAGAATCTTGATTCT GGAACAGATTTGTCTTTCCCATGGATTCTGAATGTGCTTAATTTAAAAGCCTTTGATTTTTACAAAGTGATCGAAAGTTTTATCAAAGCA GAAGGCAACTTGACAAGAGAAATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAGATTCACCT TTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAAT AATCACACTGCAGCAGATATGTATCTTTCTCCTGTAAGATCTCCAAAGAAAAAAGGTTCAACTACGCGTGTAAATTCTACTGCAAATGCA GAGACACAAGCAACCTCAGCCTTCCAGACCCAGAAGCCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAAAAGTGTATCGGCTAGCC TATCTCCGGCTAAATACACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTG CAGAATGAGTATGAACTCATGAGAGACAGGCATTTGGACCAAATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGAC CTTAAATTCAAAATCATTGTAACAGCATACAAGGATCTTCCTCATGCTGTTCAGGAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAG TATGATTCTATTATAGTATTCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGCCCCCTACC TTGTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACCC CTGAAGAGTCCATATAAAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGAATCTTAGTATCAATTGGTGAATCA TTCGGGACTTCTGAGAAGTTCCAGAAAATAAATCAGATGGTATGTAACAGCGACCGTGTGCTCAAAAGAAGTGCTGAAGGAAGCAACCCT CCTAAACCACTGAAAAAACTACGCTTTGATATTGAAGGATCAGATGAAGCAGATGGAAGTAAACATCTCCCAGGAGAGTCCAAATTTCAG CAGAAACTGGCAGAAATGACTTCTACTCGAACACGAATGCAAAAGCAGAAAATGAATGATAGCATGGATACCTCAAACAAGGAAGAGAAA TGAGGATCTCAGGACCTTGGTGGACACTGTGTACACCTCTGGATTCATTGTCTCTCACAGATGTGACTGTATAACTTTCCCAGGTTCTGT TTATGGCCACATTTAATATCTTCAGCTCTTTTTGTGGATATAAAATGTGCAGATGCAATTGTTTGGGTGATTCCTAAGCCACTTGAAATG TTAGTCATTGTTATTTATACAAGATTGAAAATCTTGTGTAAATCCTGCCATTTAAAAAGTTGTAGCAGATTGTTTCCTCTTCCAAAGTAA AATTGCTGTGCTTTATGGATAGTAAGAATGGCCCTAGAGTGGGAGTCCTGATAACCCAGGCCTGTCTGACTACTTTGCCTTCTTTTGTAG CATATAGGTGATGTTTGCTCTTGTTTTTATTAATTTATATGTATATTTTTTTAATTTAACATGAACACCCTTAGAAAATGTGTCCTATCT ATCTTCCAAATGCAATTTGATTGACTGCCCATTCACCAAAATTATCCTGAACTCTTCTGCAAAAATGGATATTATTAGAAATTAGAAAAA AATTACTAATTTTACACATTAGATTTTATTTTACTATTGGAATCTGATATACTGTGTGCTTGTTTTATAAAATTTTGCTTTTAATTAAAT AAAAGCTGGAAGCAAAGTATAACCATATGATACTATCATACTACTGAAACAGATTTCATACCTCAGAATGTAAAAGAACTTACTGATTAT TTTCTTCATCCAACTTATGTTTTTAAATGAGGATTATTGATAGTACTCTTGGTTTTTATACCATTCAGATCACTGAATTTATAAAGTACC CATCTAGTACTTGAAAAAGTAAAGTGTTCTGCCAGATCTTAGGTATAGAGGACCCTAACACAGTATATCCCAAGTGCACTTTCTAATGTT TCTGGGTCCTGAAGAATTAAGATACAAATTAATTTTACTCCATAAACAGACTGTTAATTATAGGAGCCTTAATTTTTTTTTCATAGAGAT TTGTCTAATTGCATCTCAAAATTATTCTGCCCTCCTTAATTTGGGAAGGTTTGTGTTTTCTCTGGAATGGTACATGTCTTCCATGTATCT TTTGAACTGGCAATTGTCTATTTATCTTTTATTTTTTTAAGTCAGTATGGTCTAACACTGGCATGTTCAAAGCCACATTATTTCTAGTCC AAAATTACAAGTAATCAAGGGTCATTATGGGTTAGGCATTAATGTTTCTATCTGATTTTGTGCAAAAGCTTCAAATTAAAACAGCTGCAT TAGAAAAAGAGGCGCTTCTCCCCTCCCCTACACCTAAAGGTGTATTTAAACTATCTTGTGTGATTAACTTATTTAGAGATGCTGTAACTT AAAATAGGGGATATTTAAGGTAGCTTCAGCTAGCTTTTAGGAAAATCACTTTGTCTAACTCAGAATTATTTTTAAAAAGAAATCTGGTCT TGTTAGAAAACAAAATTTTATTTTGTGCTCATTTAAGTTTCAAACTTACTATTTTGACAGTTATTTTGATAACAATGACACTAGAAAACT TGACTCCATTTCATCATTGTTTCTGCATGAATATCATACAAATCAGTTAGTTTTTAGGTCAAGGGCTTACTATTTCTGGGTCTTTTGCTA CTAAGTTCACATTAGAATTAGTGCCAGAATTTTAGGAACTTCAGAGATCGTGTATTGAGATTTCTTAAATAATGCTTCAGATATTATTGC TTTATTGCTTTTTTGTATTGGTTAAAACTGTACATTTAAAATTGCTATGTTACTATTTTCTACAATTAATAGTTTGTCTATTTTAAAATA AATTAGTTGTTAAGAGTCTTAATGGTCTGATGTTGTGTTCTTTGTATTAAGTACACTAATGTTCTCTTTTCTGTCTAGGAGAAGATAGAT |
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FusionGenePPI for VWA8_RB1 |
| 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 |
| VWA8 | KEAP1, LGR4, NUDCD1, IDI1, ENDOV, PARP16, CLEC11A, BMP7, NUDT12, NTRK1, LCA5, SCLT1, PDK1, CDC23, KERA, PROSER2, HSPB8, DKKL1, EEF1D, BMP5, FOXA1 | RB1 | CUX1, MCM7, HBP1, TRAP1, AATF, THOC1, LIN9, BRCA1, ABL1, BCR, NCOA6, BAG1, RBBP8, HDAC1, AR, MORF4L2, SERPINB2, TP73, GNB2L1, CBX1, PELP1, PIK3R3, PPARG, HDAC3, RBBP4, E2F1, MORF4L1, MRFAP1, RBBP7, CDK2, DNMT1, HDAC2, ARID4A, NFIX, SP1, SMARCA4, MYOD1, DNMT3A, EID1, BRF1, PRDM2, SUV39H1, CBX5, CBX4, RING1, VDR, KDM5A, CCND3, PML, CCND1, TAF1, PA2G4, TMPO, MYC, TGM2, POLA1, FRK, ATF2, SNW1, ARID3B, SNAPC1, SNAPC3, CCNT2, CDK9, RAF1, E2F4, E4F1, ENC1, RFC1, LMNA, CREG1, CEBPB, HMGB1, PHB, MDM2, JUN, PAX6, MNAT1, RBBP5, E2F2, TRIP11, UBTF, AHR, ARNT, CCNA1, TFDP1, TFDP2, RBBP9, TBP, USP4, L3MBTL1, L3MBTL2, AURKB, CDK4, ZBTB7A, SKP2, HMGA2, KDM5B, KDM4A, STAT3, KDM1A, LIN54, SKI, SKIL, KAT2B, FOXM1, YY1, DNAJA2, SMYD2, UHRF2, TAL1, TCF3, LMO2, LDB1, IRF3, NPM1, CEBPA, KAT5, TRIM27, CCNE1, CDK5, CCND2, PSMA7, CCNA2, CDK1, PSMD10, CDC27, ANAPC2, CDC16, FZR1, MAPK14, TP53, PPP1CA, CDK6, RNF40, UHRF1, UBR4, RBAK, SPI1, E2F3, CHEK2, CHEK1, CEBPD, MDM4, PAX2, PNO1, GTF2H1, PURA, CCNB1, RINT1, FOS, CDK14, PPIA, TOP2A, NOTCH1, RUNX2, ID2, CDK3, DGKZ, INS, HIST4H4, PRMT2, CASP3, CASP6, CASP7, CASP8, CASP9, CASP10, MAPK8, UBE2I, CEBPE, MRPS18B, CCNC, PRKCB, TFAP2A, PAX5, HIF1A, CDKN1A, CDKN1C, HDAC11, PLA2G12A, MAGEA11, NEFM, DYRK1A, DYRK1B, USP7, KDM2A, EP300, SIRT1, PAX8, KLK11, RFPL2, FAS, TFDP3, CTBP1, C3orf62, CDK13, NTRK1, RBBP6, GTF3C2, GRB2, RABGAP1L, CHN2, ANKS1A, CLNK, MED23, BAG6, UBL4A, HERC4, RPRD1B, RBM26, FOXA3, FOXK1, FOXK2, FOXO1, FOXO3, PPP1R26, NFATC2, BRD4, FAM208A, RFC5, PPAN, KIAA0430, HELZ, PCGF3, HSP90AA1, WEE1, TUBA1A |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Tgene | RB1 | chr13:42439872 | chr13:48916735 | ENST00000267163 | + | 1 | 27 | 763_928 | 88 | 929 | LIMD1 |
| - 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 VWA8_RB1 |
| 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 | RB1 | P06400 | DB00071 | Insulin Pork | Retinoblastoma-associated protein | biotech | approved |
| Tgene | RB1 | P06400 | DB00030 | Insulin Human | Retinoblastoma-associated protein | biotech | approved|investigational |
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RelatedDiseases for VWA8_RB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | VWA8 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | RB1 | C0035335 | Retinoblastoma | 9 | CTD_human;HPO;UNIPROT |
| Tgene | RB1 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| Tgene | RB1 | C0149925 | Small cell carcinoma of lung | 2 | CTD_human;ORPHANET |
| Tgene | RB1 | C2239176 | Liver carcinoma | 2 | CTD_human |
| Tgene | RB1 | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
| Tgene | RB1 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Tgene | RB1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | RB1 | C0007786 | Brain Ischemia | 1 | CTD_human |
| Tgene | RB1 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Tgene | RB1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | RB1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | RB1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | RB1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Tgene | RB1 | C0029463 | Osteosarcoma | 1 | CTD_human;HPO |
| Tgene | RB1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Tgene | RB1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Tgene | RB1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
| Tgene | RB1 | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Tgene | RB1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | RB1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
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