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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:VWA8-COG5 (FusionGDB2 ID:HG23078TG10466)

Fusion Gene Summary for VWA8-COG5

check button Fusion gene summary
Fusion gene informationFusion gene name: VWA8-COG5
Fusion gene ID: hg23078tg10466
HgeneTgene
Gene symbol

VWA8

COG5

Gene ID

23078

10466

Gene namevon Willebrand factor A domain containing 8component of oligomeric golgi complex 5
SynonymsKIAA0564|P7BP2CDG2I|GOLTC1|GTC90
Cytomap('KIAA0564','VWA8')('COG5','COG5')

13q14.11

7q22.3

Type of geneprotein-codingprotein-coding
Descriptionvon Willebrand factor A domain-containing protein 8PEX7-binding protein 2conserved oligomeric Golgi complex subunit 513S golgi transport complex 1 90 kDa subunitCOG complex subunit 5conserved oligomeric Golgi complex protein 5
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000281496, ENST00000379310, 
ENST00000478987, 
Fusion gene scores* DoF score13 X 12 X 6=93614 X 10 X 8=1120
# samples 1313
** MAII scorelog2(13/936*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1120*10)=-3.10691520391651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VWA8 [Title/Abstract] AND COG5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA0564(42524072)-COG5(107002865), # samples:1
VWA8(42524072)-COG5(107002865), # samples:1
Anticipated loss of major functional domain due to fusion event.VWA8-COG5 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-COG5 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCOG5

GO:0048219

inter-Golgi cisterna vesicle-mediated transport

9792665


check buttonFusion gene breakpoints across VWA8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across COG5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-EJ-5510-01AKIAA0564chr13

42524072

-COG5chr7

107002865

-
ChimerDB4PRADTCGA-EJ-5510-01AVWA8chr13

42524072

-COG5chr7

107002865

-


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Fusion Gene ORF analysis for VWA8-COG5

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000281496ENST00000475638VWA8chr13

42524072

-COG5chr7

107002865

-
5CDS-intronENST00000379310ENST00000475638VWA8chr13

42524072

-COG5chr7

107002865

-
In-frameENST00000281496ENST00000297135VWA8chr13

42524072

-COG5chr7

107002865

-
In-frameENST00000281496ENST00000347053VWA8chr13

42524072

-COG5chr7

107002865

-
In-frameENST00000281496ENST00000393603VWA8chr13

42524072

-COG5chr7

107002865

-
In-frameENST00000379310ENST00000297135VWA8chr13

42524072

-COG5chr7

107002865

-
In-frameENST00000379310ENST00000347053VWA8chr13

42524072

-COG5chr7

107002865

-
In-frameENST00000379310ENST00000393603VWA8chr13

42524072

-COG5chr7

107002865

-
intron-3CDSENST00000478987ENST00000297135VWA8chr13

42524072

-COG5chr7

107002865

-
intron-3CDSENST00000478987ENST00000347053VWA8chr13

42524072

-COG5chr7

107002865

-
intron-3CDSENST00000478987ENST00000393603VWA8chr13

42524072

-COG5chr7

107002865

-
intron-intronENST00000478987ENST00000475638VWA8chr13

42524072

-COG5chr7

107002865

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000379310VWA8chr1342524072-ENST00000347053COG5chr7107002865-3863310691901610
ENST00000379310VWA8chr1342524072-ENST00000297135COG5chr7107002865-2917310691964631
ENST00000379310VWA8chr1342524072-ENST00000393603COG5chr7107002865-4528310691853594
ENST00000281496VWA8chr1342524072-ENST00000347053COG5chr7107002865-3899346121937641
ENST00000281496VWA8chr1342524072-ENST00000297135COG5chr7107002865-2953346122000662
ENST00000281496VWA8chr1342524072-ENST00000393603COG5chr7107002865-4564346121889625

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000379310ENST00000347053VWA8chr1342524072-COG5chr7107002865-0.0008515980.99914837
ENST00000379310ENST00000297135VWA8chr1342524072-COG5chr7107002865-0.0010479530.99895203
ENST00000379310ENST00000393603VWA8chr1342524072-COG5chr7107002865-0.0014595060.9985405
ENST00000281496ENST00000347053VWA8chr1342524072-COG5chr7107002865-0.0008540550.999146
ENST00000281496ENST00000297135VWA8chr1342524072-COG5chr7107002865-0.001064620.9989354
ENST00000281496ENST00000393603VWA8chr1342524072-COG5chr7107002865-0.0014999160.9985001

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Fusion Genomic Features for VWA8-COG5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for VWA8-COG5


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:42524072/chr7:107002865)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneVWA8chr13:42524072chr7:107002865ENST00000281496-2261714_1896801040.0DomainVWFA
HgeneVWA8chr13:42524072chr7:107002865ENST00000379310-2451714_1896801906.0DomainVWFA
HgeneVWA8chr13:42524072chr7:107002865ENST00000281496-226447_454801040.0Nucleotide bindingATP
HgeneVWA8chr13:42524072chr7:107002865ENST00000379310-245447_454801906.0Nucleotide bindingATP


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Fusion Gene Sequence for VWA8-COG5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>98621_98621_1_VWA8-COG5_VWA8_chr13_42524072_ENST00000281496_COG5_chr7_107002865_ENST00000297135_length(transcript)=2953nt_BP=346nt
AGGTGCCGCTTCCTGTCCCCTTCTCCGCGCTGCCTCACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGAC
AGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTC
CTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGT
GATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACAGGGGACCTGGACGA
TCTACCATGCCAACCCCAGGAAATACTGCAGCTTTGCGTGCCTCATTCTGGACCAATATGGAGAAACTTATGGATCATATTTATGCTGTT
TGTGGACAGGTACAACATCTACAAAAAGTATTGGCCAAGAAGAGAGATCCTGTTTCTCACATTTGTTTCATTGAAGAAATAGTTAAGGAT
GGACAACCGGAAATTTTCTACACATTTTGGAATTCAGTTACTCAGGCACTTTCTTCTCAATTTCATATGGCAACAAACTCTTCGATGTTT
TTGAAGCAGGCATTTGAAGGAGAATACCCTAAATTATTACGTCTTTATAATGACTTATGGAAGCGTCTTCAACAATACAGTCAGCATATC
CAAGGGAATTTTAATGCAAGTGGAACTACAGACCTCTATGTTGACCTACAACACATGGAAGATGATGCACAAGATATATTCATACCAAAA
AAGCCAGATTATGATCCAGAAAAGGCTTTGAAAGACTCACTACAACCCTATGAGGCTGCTTATCTATCAAAATCCTTATCTCGACTCTTC
GATCCTATCAACTTGGTTTTTCCCCCGGGTGGTCGTAATCCTCCTTCCTCTGATGAACTTGATGGTATTATTAAAACTATAGCAAGTGAA
CTAAATGTTGCTGCTGTTGATACAAACCTCACATTAGCTGTGTCAAAAAATGTGGCAAAGACCATCCAGTTATACAGTGTAAAATCAGAG
CAGCTTCTCTCCACACAAGGAGATGCAAGTCAGGTGATTGGGCCTCTTACTGAAGGACAGAGAAGAAATGTGGCAGTAGTGAATTCATTG
TATAAGTTGCACCAATCAGTAACAAAGGTTGTTTCCAGTCAGAGCTCATTCCCACTGGCAGCTGAGCAAACTATAATTTCAGCTCTAAAG
GCTATTCATGCTCTTATGGAAAATGCTGTGCAACCCTTACTCACTTCTGTGGGAGATGCTATAGAGGCCATAATCATCACCATGCATCAA
GAAGACTTTTCTGGGTCATTATCCAGCTCAGGAAAACCTGATGTTCCTTGTTCTCTGTACATGAAGGAGCTACAAGGTTTCATTGCCAGA
GTTATGAGTGACTATTTTAAACACTTTGAATGCTTGGATTTTGTCTTTGACAACACTGAGGCTATTGCCCAAAGAGCTGTTGAACTTTTT
ATCCGCCATGCCAGTCTCATAAGACCTCTTGGTGAAGGTGGGAAAATGCGACTTGCTGCTGATTTTGCACAGATGGAGTTGGCTGTGGGT
CCATTCTGTAGACGAGTATCTGATTTAGGAAAGTCCTATCGGATGCTGAGATCATTCAGACCTCTGCTCTTCCAGGCAAGTGAACATGTA
GCCAGTAGTCCTGCATTGGGGGATGTGATTCCGTTCAGCATCATTATTCAGTTTTTGTTCACGAGAGCACCCGCTGAACTGAAATCTCCT
TTCCAGAGGGCAGAGTGGTCCCACACACGCTTCTCTCAGTGGCTGGATGACCATCCATCTGAAAAGGACAGGCTCCTCCTCATCAGGGGA
GCCCTGGAAGCTTATGTTCAATCAGTGAGAAGTAGAGAAGGCAAAGAATTTGCACCAGTTTATCCCATAATGGTTCAGCTGCTTCAAAAG
GCTATGTCTGCTCTTCAGTAATGACATGAAATCTTTGTTCATCTCCACTTTGTGCTAACCCATTCATAGTTGGCAGTTAAACACATACTC
CAAAAGACTGCTACTATCTACTATTTTAAGAATGTAATTGATTGTTCGGTATTTCCTATCGACGTTTATTTACCTCTTTAGCACTTATAC
TTTAGCATAAAAAATGTTGAGTTATCACCACCTTTCAATTCCATGGACCTGATTTTTCCAGAAAGATGTTTTCCTCTTTCAGATTTTTGT
ACAAGGCTAAAATGTCTTTCCCATCCATAACCAAGTCCTCCTATGGGTACATAAACCCAAAGTCCCCACTTCTTTTAAAGGGATATGATC
AAGTTATAACATGTACCCTGCTTCCCCCAACCCTGCCTTCTTCACTAAATAAGCATGTAGCTCAGTGGTTTCCAAATTTGGCTGCACATT
CATACCAATCACCAGGGGATTTTTTTAAAATCCTGATGCCCAACTTGCACTCCACATTAATTAACATGTCTAGGAGTGGGAGCCTGACAG
ACACCACTATTAAAAAAAAAAAAAATCCCCAAAATGATTCCAATAGACAACAAAGTTGAGGAACCACTGGCACATCCCAAGCTAAGATAC
AAGGTTAAATGGCCTTTTTAAGTATGTCATACTGGATCTTTAAATAAAGCAAGGCTTTTGTTACACTTTGTCATGTTATTAAAAGCAGAC
CTTTGGGCTGTTTAACCGTGTAACAAAAATGCCACGTGAAAAATAAAAATTTTTATTGTATAGCAATTCTCTATAAATAGTAGATAATCT
AAGTCCTTATTTTCTGATGGCTCTTGTTCCACTATTAACATTGTTTTTAATTTTTAAAATCCTATCAGCAGCCTCCTAATTAGCAGTGTT

>98621_98621_1_VWA8-COG5_VWA8_chr13_42524072_ENST00000281496_COG5_chr7_107002865_ENST00000297135_length(amino acids)=662AA_BP=112
MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN
IGDVSYKLKIPKNPELVPQNYRGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPE
IFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDY
DPEKALKDSLQPYEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLS
TQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFS
GSLSSSGKPDVPCSLYMKELQGFIARVMSDYFKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCR
RVSDLGKSYRMLRSFRPLLFQASEHVASSPALGDVIPFSIIIQFLFTRAPAELKSPFQRAEWSHTRFSQWLDDHPSEKDRLLLIRGALEA

--------------------------------------------------------------
>98621_98621_2_VWA8-COG5_VWA8_chr13_42524072_ENST00000281496_COG5_chr7_107002865_ENST00000347053_length(transcript)=3899nt_BP=346nt
AGGTGCCGCTTCCTGTCCCCTTCTCCGCGCTGCCTCACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGAC
AGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTC
CTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGT
GATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACAGGGGACCTGGACGA
TCTACCATGCCAACCCCAGGAAATACTGCAGCTTTGCGTGCCTCATTCTGGACCAATATGGAGAAACTTATGGATCATATTTATGCTGTT
TGTGGACAGGTACAACATCTACAAAAAGTATTGGCCAAGAAGAGAGATCCTGTTTCTCACATTTGTTTCATTGAAGAAATAGTTAAGGAT
GGACAACCGGAAATTTTCTACACATTTTGGAATTCAGTTACTCAGGCACTTTCTTCTCAATTTCATATGGCAACAAACTCTTCGATGTTT
TTGAAGCAGGCATTTGAAGGAGAATACCCTAAATTATTACGTCTTTATAATGACTTATGGAAGCGTCTTCAACAATACAGTCAGCATATC
CAAGGGAATTTTAATGCAAGTGGAACTACAGACCTCTATGTTGACCTACAACACATGGAAGATGATGCACAAGATATATTCATACCAAAA
AAGCCAGATTATGATCCAGAAAAGGCTTTGAAAGACTCACTACAACCCTATGAGGCTGCTTATCTATCAAAATCCTTATCTCGACTCTTC
GATCCTATCAACTTGGTTTTTCCCCCGGGTGGTCGTAATCCTCCTTCCTCTGATGAACTTGATGGTATTATTAAAACTATAGCAAGTGAA
CTAAATGTTGCTGCTGTTGATACAAACCTCACATTAGCTGTGTCAAAAAATGTGGCAAAGACCATCCAGTTATACAGTGTAAAATCAGAG
CAGCTTCTCTCCACACAAGGAGATGCAAGTCAGGTGATTGGGCCTCTTACTGAAGGACAGAGAAGAAATGTGGCAGTAGTGAATTCATTG
TATAAGTTGCACCAATCAGTAACAAAGGCTATTCATGCTCTTATGGAAAATGCTGTGCAACCCTTACTCACTTCTGTGGGAGATGCTATA
GAGGCCATAATCATCACCATGCATCAAGAAGACTTTTCTGGGTCATTATCCAGCTCAGGAAAACCTGATGTTCCTTGTTCTCTGTACATG
AAGGAGCTACAAGGTTTCATTGCCAGAGTTATGAGTGACTATTTTAAACACTTTGAATGCTTGGATTTTGTCTTTGACAACACTGAGGCT
ATTGCCCAAAGAGCTGTTGAACTTTTTATCCGCCATGCCAGTCTCATAAGACCTCTTGGTGAAGGTGGGAAAATGCGACTTGCTGCTGAT
TTTGCACAGATGGAGTTGGCTGTGGGTCCATTCTGTAGACGAGTATCTGATTTAGGAAAGTCCTATCGGATGCTGAGATCATTCAGACCT
CTGCTCTTCCAGGCAAGTGAACATGTAGCCAGTAGTCCTGCATTGGGGGATGTGATTCCGTTCAGCATCATTATTCAGTTTTTGTTCACG
AGAGCACCCGCTGAACTGAAATCTCCTTTCCAGAGGGCAGAGTGGTCCCACACACGCTTCTCTCAGTGGCTGGATGACCATCCATCTGAA
AAGGACAGGCTCCTCCTCATCAGGGGAGCCCTGGAAGCTTATGTTCAATCAGTGAGAAGTAGAGAAGGCAAAGAATTTGCACCAGTTTAT
CCCATAATGGTTCAGCTGCTTCAAAAGGCTATGTCTGCTCTTCAGTAATGACATGAAATCTTTGTTCATCTCCACTTTGTGCTAACCCAT
TCATAGTTGGCAGTTAAACACATACTCCAAAAGACTGCTACTATCTACTATTTTAAGAATGTAATTGATTGTTCGGTATTTCCTATCGAC
GTTTATTTACCTCTTTAGCACTTATACTTTAGCATAAAAAATGTTGAGTTATCACCACCTTTCAATTCCATGGACCTGATTTTTCCAGAA
AGATGTTTTCCTCTTTCAGATTTTTGTACAAGGCTAAAATGTCTTTCCCATCCATAACCAAGTCCTCCTATGGGTACATAAACCCAAAGT
CCCCACTTCTTTTAAAGGGATATGATCAAGTTATAACATGTACCCTGCTTCCCCCAACCCTGCCTTCTTCACTAAATAAGCATGTAGCTC
AGTGGTTTCCAAATTTGGCTGCACATTCATACCAATCACCAGGGGATTTTTTTAAAATCCTGATGCCCAACTTGCACTCCACATTAATTA
ACATGTCTAGGAGTGGGAGCCTGACAGACACCACTATTAAAAAAAAAAAAAATCCCCAAAATGATTCCAATAGACAACAAAGTTGAGGAA
CCACTGGCACATCCCAAGCTAAGATACAAGGTTAAATGGCCTTTTTAAGTATGTCATACTGGATCTTTAAATAAAGCAAGGCTTTTGTTA
CACTTTGTCATGTTATTAAAAGCAGACCTTTGGGCTGTTTAACCGTGTAACAAAAATGCCACGTGAAAAATAAAAATTTTTATTGTATAG
CAATTCTCTATAAATAGTAGATAATCTAAGTCCTTATTTTCTGATGGCTCTTGTTCCACTATTAACATTGTTTTTAATTTTTAAAATCCT
ATCAGCAGCCTCCTAATTAGCAGTGTTAGGAATTTGCCTTATGTTTTCCATCTCATCTCCTGAACCTGTTATTCTGAGAACTCATAAATA
AAATTCAGCCAAGATTAATCAATCAATCAATCAATCAGTAGACGTCAGAGATAAGCAACTTTTTTTTCCATTTATTTGAAATAATATACA
AGAATATAGTGTGCAAAATTTAGGGGCAACATCATGAAGAAGTGTGATGAACTGAAATCAATTTTACAGCTGTGATTCCTAACCAGAAAC
ACCACTTGGTAAGTAACATGAAAAGCCATGATTGTAGCTCAGAGCAAAAGCAGCTGTATTGCCAATGTATTTGCTCTAATTTTAGACAGT
TGGAGGAAAATTAAAGTGCAAGTGTTGCACTGCAGTAAGTGCAAAGTCTGCCCCCACCATAAAGATTATGATGACAAAATATATTTAAGA
TACATGGCTGAGGAGATACAGAACACGAAGTTAAAAAATACAATGGTGTTGACTGTTTGTTAATAGCACCATTACAGTGACTATATCCCA
ATGCTATTAACTAACTTTACCTTGGCCTGGGCTAGGTCTCCATTGGAAATAATAACGGATGGCTGCTGCCACCTGGTGCATCAACTCAGC
ATGCCATGGTAACTGCAGCAGGTGGCTCTTAGGCTGGGACACCAACACCAGCCACCTGCCCCATGTTCTGGTAGCCTCTTGGCACTGACC
AGACTAGGAGCGCCTATGTTTGGCACAGATGCTGAGCCATGTGGTGGTTACTAGAGGAAAGGCCGACTCCCAGCTTCTGCTTCATTTCAT
CATGTGTACAATACAGATTAATAAGCAGTAAGGAGCCAATGTATAAACAGCAGTTACATATTTTTTAAATTCCCCTTTCGTACAATTTAA
AATAAAACATGTATACACTTCTCCTCTCTTTCTACTGTACTTTAGCACCACAGGATATCAATTTTCAAGCCTATTATTACCTGATAGACA
TATATGAAGTTTGGAAGAAAAATAAGGCAATTTGGTTTAAAATGTTGATAGTTTTAGCTTAATGCTCTAATGGAGAAAGCAAATCCTCAC

>98621_98621_2_VWA8-COG5_VWA8_chr13_42524072_ENST00000281496_COG5_chr7_107002865_ENST00000347053_length(amino acids)=641AA_BP=112
MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN
IGDVSYKLKIPKNPELVPQNYRGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPE
IFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDY
DPEKALKDSLQPYEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLS
TQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQ
GFIARVMSDYFKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQ
ASEHVASSPALGDVIPFSIIIQFLFTRAPAELKSPFQRAEWSHTRFSQWLDDHPSEKDRLLLIRGALEAYVQSVRSREGKEFAPVYPIMV

--------------------------------------------------------------
>98621_98621_3_VWA8-COG5_VWA8_chr13_42524072_ENST00000281496_COG5_chr7_107002865_ENST00000393603_length(transcript)=4564nt_BP=346nt
AGGTGCCGCTTCCTGTCCCCTTCTCCGCGCTGCCTCACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGAC
AGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTC
CTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGT
GATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACAGGGGACCTGGACGA
TCTACCATGCCAACCCCAGGAAATACTGCAGCTTTGCGTGCCTCATTCTGGACCAATATGGAGAAACTTATGGATCATATTTATGCTGTT
TGTGGACAGGTACAACATCTACAAAAAGTATTGGCCAAGAAGAGAGATCCTGTTTCTCACATTTGTTTCATTGAAGAAATAGTTAAGGAT
GGACAACCGGAAATTTTCTACACATTTTGGAATTCAGTTACTCAGGCACTTTCTTCTCAATTTCATATGGCAACAAACTCTTCGATGTTT
TTGAAGCAGGCATTTGAAGGAGAATACCCTAAATTATTACGTCTTTATAATGACTTATGGAAGCGTCTTCAACAATACAGTCAGCATATC
CAAGGGAATTTTAATGCAAGTGGAACTACAGACCTCTATGTTGACCTACAACACATGGAAGATGATGCACAAGATATATTCATACCAAAA
AAGCCAGATTATGATCCAGAAAAGGCTTTGAAAGACTCACTACAACCCTATGAGGCTGCTTATCTATCAAAATCCTTATCTCGACTCTTC
GATCCTATCAACTTGGTTTTTCCCCCGGGTGGTCGTAATCCTCCTTCCTCTGATGAACTTGATGGTATTATTAAAACTATAGCAAGTGAA
CTAAATGTTGCTGCTGTTGATACAAACCTCACATTAGCTGTGTCAAAAAATGTGGCAAAGACCATCCAGTTATACAGTGTAAAATCAGAG
CAGCTTCTCTCCACACAAGGAGATGCAAGTCAGGTGATTGGGCCTCTTACTGAAGGACAGAGAAGAAATGTGGCAGTAGTGAATTCATTG
TATAAGTTGCACCAATCAGTAACAAAGGTTGTTTCCAGTCAGAGCTCATTCCCACTGGCAGCTGAGCAAACTATAATTTCAGCTCTAAAG
GCTATTCATGCTCTTATGGAAAATGCTGTGCAACCCTTACTCACTTCTGTGGGAGATGCTATAGAGGCCATAATCATCACCATGCATCAA
GAAGACTTTTCTGGGTCATTATCCAGCTCAGGAAAACCTGATGTTCCTTGTTCTCTGTACATGAAGGAGCTACAAGGTTTCATTGCCAGA
GTTATGAGTGACTATTTTAAACACTTTGAATGCTTGGATTTTGTCTTTGACAACACTGAGGCTATTGCCCAAAGAGCTGTTGAACTTTTT
ATCCGCCATGCCAGTCTCATAAGACCTCTTGGTGAAGGTGGGAAAATGCGACTTGCTGCTGATTTTGCACAGATGGAGTTGGCTGTGGGT
CCATTCTGTAGACGAGTATCTGATTTAGGAAAGTCCTATCGGATGCTGAGATCATTCAGACCTCTGCTCTTCCAGGCAAGTGAACATGTA
GCCAGTAGTCCTGCATTGGGGGATGTGATTCCGTTCAGCATCATTATTCAGTTTTTGTTCACGAGAGCACCCGCTGAACTGAAATCTCCT
TTCCAGAGGGCAGAGTGGTCCCACACACGCTTCTCTCAGTGGCTGGATGACCATCCATCTGAAAAGGACAGGCTCCTCCTCATCAGGTAA
AGCCAGGTGCTCTGGGGGCACCCATCTGGTCTGGAAGCCCAAGGAGGGTGGGGATGCAAGAGAGGATGAAGGAGCAGTGCCTGGGGGCAT
GGACATGTGACTGCACCTTCCAGTGGCGGGCCACCTCACTGCCTAGGCACGGGTGCTGGAGCAACCAGCAGTTGGAAATGTTGGCCACAA
CATCTTTTGCTTTCTTTCATTCCAAACCTTCATATCCCTGATGTGCAATCCTGTGTCCCATGCAACCCTAAGGACCATGCATTTGTACCT
TTGAAAATCATCATTTGCTATGAAAAGTTTTGCCCTAGCTCCGCATCTTTTACTTCATTTTTATGTGCTGCAGTTACTGAATTGGTGGAA
CACAGATGTGAGTGAATTTTTAAAAATACCCAAGTGCGAAACAGTTCTGAGGAGGAAACAAGAACAACCCAGCAGCCACTTGGATACCAT
GGCCCTCCAGTAGTGCCCCATGAATGCATTCACATACATACGCATGTGCTCTTGCCCACACGTGCACACACCCCCATGTACCCCAACCAT
GCCCAGGGTGGGGTGCTTTAACTGTCATACATGGCTTATTAAGCAACACTCTTCCCTGCAACTGCTCTCACCATCACCAGAGACCTCTCA
GCCACCAAACATTCCCATTTTTACCTTACCACTCTGTAGCTTTAGCTACAGTTGACCGCCATTTCCTTCTGTAAACTCATAAACTGGGAC
TCAGCACATTTTTATTGATGCTGAGCTCACATTTTATCAGCATGGTAGGCCCTGGGCCAGGAACCGAGGATACGAAGTAAGCCGAGATAT
GGCCCTGTCCTCTCAGAGCTTGCATTACACCACAGCCATCTGTTTCTGTTCTAACTTCTCTGGCCATTTTTTTTTGTGTGTCATTTGCTG
AATTATCTTCTTCTAGCCATTCCTTAAATGCTATCATTTCCCATATTTTCTTCTTCTCATCCTGCCTCTGCCTTGGTTCCCAGGTGAGCT
TGTCCAGACCCATGCCTCTAGTGCCCCTTCTATACTTAAGAGCCCTCAGGTCTGTGACTGCCTCTGGATGGGGCCTTGGCCCAGTAAACT
TGCTATCATATGTCACCACCCACAGAAATCTCAACCCCAGAATGGTCAAAATAATTCTAATCTTTTCTCTCAAACCTTCTCATTCTCTTA
TACTCCCTGTCTTGGTTGGGAGGTCACAATCACCTAACTAGCCAAGCCGGAAAACCTTTACATCATCATTCAACTCCTCTGTCATCCTTA
TTCCTCAAACCCACTCTGTTGCGTCTCTAAAATAGCTCTTGAAGTCATTCTCAACTCTCCCAGGGGATCCCAATTCTGTTGGTCTGGGCC
CACTGCACCCAGTGATCCTTTGTTAGCCTGTGTCAGGTGATGAGTTGAGTTCCCTAAAGCCAGAGTGGGGCTGACATGATGAGGTGGTTC
TAAACCACATGTGCACACAAGAATCATTTACATAGCTTGGAAAATTCCTAGTGCCCAGGTCTCTCACCCTTGCCTACCTCAGAATCTCCA
GGGTAGGCCTGCTATCAGGATTTCTCTATAGCTCCCCAAGAAGGTCCAGGGTGCAGCCAAGGGCGTGAACCCCTGCCATAGTGGGTCATA
TTTCAGTTAGGATGAAAGACTGCTGAGGAAGCTATGACAGGTCAGTAAGAACCATCAGCCTGTCAGCTTTGTTTCCAGAAGTGACCCTGA
GCCCTCAAGCTTGGTACCCACATCCCACATGAGCCACTGGCCCTCTGGGCGTATGTGTGGATAAAGATTAGCTCGGACCCTGCTCTTTTT
CCTTGCTTATCTGTTACTCAGCTATGAACATCTGACACAGAAATGGGAGAGGTTACCAGCCCCGGTGAATGTTCCTGGTAAAATCTGCCC
TCGGGAAAGGCTTTGGATTTGGGTGAGGAGTTTGGGCCTGGGCTAACACAGGGATTTGCAATGTCTGTGTGGATTATTTTTCCCGAGTCC
CAAAGATTCACTCAGCTGCAACACACTCAGTCGTCTTAAAAAGAGGATTCAGTTAATTGAACACGTTCATTTTTCTCATCTTAACAAGTT
GGTCATTTTTGTCGTCTTAACAAGTTGGAATGAGTTCATCCAAAACAGTTGTCCTGCTGTGTGTACATCACAAATCTGTTTTCTTTTGCT
TCTCTTTAAAAATGTCTCCTGAGTGATTTCATCAGCAGTGCTGTTGCTAAGCCTATATTTAGCAACTGAAAATCATGCTCAGAAATACTG
TCATGCTTTTTTAAAAAGGCATATCCATCCCTCCACACATGGCTGATTCCAGAACCTTCATGCCCTTAGCAAAAAATTGAGCTGTCCTTC
AGGGTTTCAAAAAAAGTACTGTACTCCTGCTGCACCCCAGGCTCTTGGCAAGGAGGGGACTTTTGTCCTAGAGAATGTTCTTTCTTATGT
ATTATTGCAAAACAATTTTGTTCTTGCATACTGAAGCATCACTGGATGAATTTCTTTCCCCTGTAGACAAACCGAGGGTGAGTATTGCTC
TTTAAATGTCAGTAAATTTGTTTTAGCTTCTGGGGCAAACCTTGTTGTATACTCATTCTGTTCCTCCCAGCATAATATGTTAGGTTGTCA

>98621_98621_3_VWA8-COG5_VWA8_chr13_42524072_ENST00000281496_COG5_chr7_107002865_ENST00000393603_length(amino acids)=625AA_BP=112
MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN
IGDVSYKLKIPKNPELVPQNYRGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPE
IFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDY
DPEKALKDSLQPYEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLS
TQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFS
GSLSSSGKPDVPCSLYMKELQGFIARVMSDYFKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCR

--------------------------------------------------------------
>98621_98621_4_VWA8-COG5_VWA8_chr13_42524072_ENST00000379310_COG5_chr7_107002865_ENST00000297135_length(transcript)=2917nt_BP=310nt
ACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGACAGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTC
CTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGAC
AGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTG
AAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACAGGGGACCTGGACGATCTACCATGCCAACCCCAGGAAATACTGCAGCTTTG
CGTGCCTCATTCTGGACCAATATGGAGAAACTTATGGATCATATTTATGCTGTTTGTGGACAGGTACAACATCTACAAAAAGTATTGGCC
AAGAAGAGAGATCCTGTTTCTCACATTTGTTTCATTGAAGAAATAGTTAAGGATGGACAACCGGAAATTTTCTACACATTTTGGAATTCA
GTTACTCAGGCACTTTCTTCTCAATTTCATATGGCAACAAACTCTTCGATGTTTTTGAAGCAGGCATTTGAAGGAGAATACCCTAAATTA
TTACGTCTTTATAATGACTTATGGAAGCGTCTTCAACAATACAGTCAGCATATCCAAGGGAATTTTAATGCAAGTGGAACTACAGACCTC
TATGTTGACCTACAACACATGGAAGATGATGCACAAGATATATTCATACCAAAAAAGCCAGATTATGATCCAGAAAAGGCTTTGAAAGAC
TCACTACAACCCTATGAGGCTGCTTATCTATCAAAATCCTTATCTCGACTCTTCGATCCTATCAACTTGGTTTTTCCCCCGGGTGGTCGT
AATCCTCCTTCCTCTGATGAACTTGATGGTATTATTAAAACTATAGCAAGTGAACTAAATGTTGCTGCTGTTGATACAAACCTCACATTA
GCTGTGTCAAAAAATGTGGCAAAGACCATCCAGTTATACAGTGTAAAATCAGAGCAGCTTCTCTCCACACAAGGAGATGCAAGTCAGGTG
ATTGGGCCTCTTACTGAAGGACAGAGAAGAAATGTGGCAGTAGTGAATTCATTGTATAAGTTGCACCAATCAGTAACAAAGGTTGTTTCC
AGTCAGAGCTCATTCCCACTGGCAGCTGAGCAAACTATAATTTCAGCTCTAAAGGCTATTCATGCTCTTATGGAAAATGCTGTGCAACCC
TTACTCACTTCTGTGGGAGATGCTATAGAGGCCATAATCATCACCATGCATCAAGAAGACTTTTCTGGGTCATTATCCAGCTCAGGAAAA
CCTGATGTTCCTTGTTCTCTGTACATGAAGGAGCTACAAGGTTTCATTGCCAGAGTTATGAGTGACTATTTTAAACACTTTGAATGCTTG
GATTTTGTCTTTGACAACACTGAGGCTATTGCCCAAAGAGCTGTTGAACTTTTTATCCGCCATGCCAGTCTCATAAGACCTCTTGGTGAA
GGTGGGAAAATGCGACTTGCTGCTGATTTTGCACAGATGGAGTTGGCTGTGGGTCCATTCTGTAGACGAGTATCTGATTTAGGAAAGTCC
TATCGGATGCTGAGATCATTCAGACCTCTGCTCTTCCAGGCAAGTGAACATGTAGCCAGTAGTCCTGCATTGGGGGATGTGATTCCGTTC
AGCATCATTATTCAGTTTTTGTTCACGAGAGCACCCGCTGAACTGAAATCTCCTTTCCAGAGGGCAGAGTGGTCCCACACACGCTTCTCT
CAGTGGCTGGATGACCATCCATCTGAAAAGGACAGGCTCCTCCTCATCAGGGGAGCCCTGGAAGCTTATGTTCAATCAGTGAGAAGTAGA
GAAGGCAAAGAATTTGCACCAGTTTATCCCATAATGGTTCAGCTGCTTCAAAAGGCTATGTCTGCTCTTCAGTAATGACATGAAATCTTT
GTTCATCTCCACTTTGTGCTAACCCATTCATAGTTGGCAGTTAAACACATACTCCAAAAGACTGCTACTATCTACTATTTTAAGAATGTA
ATTGATTGTTCGGTATTTCCTATCGACGTTTATTTACCTCTTTAGCACTTATACTTTAGCATAAAAAATGTTGAGTTATCACCACCTTTC
AATTCCATGGACCTGATTTTTCCAGAAAGATGTTTTCCTCTTTCAGATTTTTGTACAAGGCTAAAATGTCTTTCCCATCCATAACCAAGT
CCTCCTATGGGTACATAAACCCAAAGTCCCCACTTCTTTTAAAGGGATATGATCAAGTTATAACATGTACCCTGCTTCCCCCAACCCTGC
CTTCTTCACTAAATAAGCATGTAGCTCAGTGGTTTCCAAATTTGGCTGCACATTCATACCAATCACCAGGGGATTTTTTTAAAATCCTGA
TGCCCAACTTGCACTCCACATTAATTAACATGTCTAGGAGTGGGAGCCTGACAGACACCACTATTAAAAAAAAAAAAAATCCCCAAAATG
ATTCCAATAGACAACAAAGTTGAGGAACCACTGGCACATCCCAAGCTAAGATACAAGGTTAAATGGCCTTTTTAAGTATGTCATACTGGA
TCTTTAAATAAAGCAAGGCTTTTGTTACACTTTGTCATGTTATTAAAAGCAGACCTTTGGGCTGTTTAACCGTGTAACAAAAATGCCACG
TGAAAAATAAAAATTTTTATTGTATAGCAATTCTCTATAAATAGTAGATAATCTAAGTCCTTATTTTCTGATGGCTCTTGTTCCACTATT
AACATTGTTTTTAATTTTTAAAATCCTATCAGCAGCCTCCTAATTAGCAGTGTTAGGAATTTGCCTTATGTTTTCCATCTCATCTCCTGA

>98621_98621_4_VWA8-COG5_VWA8_chr13_42524072_ENST00000379310_COG5_chr7_107002865_ENST00000297135_length(amino acids)=631AA_BP=81
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYRGPGRSTMPT
PGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAF
EGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQPYEAAYLSKSLSRLFDPINL
VFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQ
SVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDY
FKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQASEHVASSPA
LGDVIPFSIIIQFLFTRAPAELKSPFQRAEWSHTRFSQWLDDHPSEKDRLLLIRGALEAYVQSVRSREGKEFAPVYPIMVQLLQKAMSAL

--------------------------------------------------------------
>98621_98621_5_VWA8-COG5_VWA8_chr13_42524072_ENST00000379310_COG5_chr7_107002865_ENST00000347053_length(transcript)=3863nt_BP=310nt
ACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGACAGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTC
CTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGAC
AGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTG
AAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACAGGGGACCTGGACGATCTACCATGCCAACCCCAGGAAATACTGCAGCTTTG
CGTGCCTCATTCTGGACCAATATGGAGAAACTTATGGATCATATTTATGCTGTTTGTGGACAGGTACAACATCTACAAAAAGTATTGGCC
AAGAAGAGAGATCCTGTTTCTCACATTTGTTTCATTGAAGAAATAGTTAAGGATGGACAACCGGAAATTTTCTACACATTTTGGAATTCA
GTTACTCAGGCACTTTCTTCTCAATTTCATATGGCAACAAACTCTTCGATGTTTTTGAAGCAGGCATTTGAAGGAGAATACCCTAAATTA
TTACGTCTTTATAATGACTTATGGAAGCGTCTTCAACAATACAGTCAGCATATCCAAGGGAATTTTAATGCAAGTGGAACTACAGACCTC
TATGTTGACCTACAACACATGGAAGATGATGCACAAGATATATTCATACCAAAAAAGCCAGATTATGATCCAGAAAAGGCTTTGAAAGAC
TCACTACAACCCTATGAGGCTGCTTATCTATCAAAATCCTTATCTCGACTCTTCGATCCTATCAACTTGGTTTTTCCCCCGGGTGGTCGT
AATCCTCCTTCCTCTGATGAACTTGATGGTATTATTAAAACTATAGCAAGTGAACTAAATGTTGCTGCTGTTGATACAAACCTCACATTA
GCTGTGTCAAAAAATGTGGCAAAGACCATCCAGTTATACAGTGTAAAATCAGAGCAGCTTCTCTCCACACAAGGAGATGCAAGTCAGGTG
ATTGGGCCTCTTACTGAAGGACAGAGAAGAAATGTGGCAGTAGTGAATTCATTGTATAAGTTGCACCAATCAGTAACAAAGGCTATTCAT
GCTCTTATGGAAAATGCTGTGCAACCCTTACTCACTTCTGTGGGAGATGCTATAGAGGCCATAATCATCACCATGCATCAAGAAGACTTT
TCTGGGTCATTATCCAGCTCAGGAAAACCTGATGTTCCTTGTTCTCTGTACATGAAGGAGCTACAAGGTTTCATTGCCAGAGTTATGAGT
GACTATTTTAAACACTTTGAATGCTTGGATTTTGTCTTTGACAACACTGAGGCTATTGCCCAAAGAGCTGTTGAACTTTTTATCCGCCAT
GCCAGTCTCATAAGACCTCTTGGTGAAGGTGGGAAAATGCGACTTGCTGCTGATTTTGCACAGATGGAGTTGGCTGTGGGTCCATTCTGT
AGACGAGTATCTGATTTAGGAAAGTCCTATCGGATGCTGAGATCATTCAGACCTCTGCTCTTCCAGGCAAGTGAACATGTAGCCAGTAGT
CCTGCATTGGGGGATGTGATTCCGTTCAGCATCATTATTCAGTTTTTGTTCACGAGAGCACCCGCTGAACTGAAATCTCCTTTCCAGAGG
GCAGAGTGGTCCCACACACGCTTCTCTCAGTGGCTGGATGACCATCCATCTGAAAAGGACAGGCTCCTCCTCATCAGGGGAGCCCTGGAA
GCTTATGTTCAATCAGTGAGAAGTAGAGAAGGCAAAGAATTTGCACCAGTTTATCCCATAATGGTTCAGCTGCTTCAAAAGGCTATGTCT
GCTCTTCAGTAATGACATGAAATCTTTGTTCATCTCCACTTTGTGCTAACCCATTCATAGTTGGCAGTTAAACACATACTCCAAAAGACT
GCTACTATCTACTATTTTAAGAATGTAATTGATTGTTCGGTATTTCCTATCGACGTTTATTTACCTCTTTAGCACTTATACTTTAGCATA
AAAAATGTTGAGTTATCACCACCTTTCAATTCCATGGACCTGATTTTTCCAGAAAGATGTTTTCCTCTTTCAGATTTTTGTACAAGGCTA
AAATGTCTTTCCCATCCATAACCAAGTCCTCCTATGGGTACATAAACCCAAAGTCCCCACTTCTTTTAAAGGGATATGATCAAGTTATAA
CATGTACCCTGCTTCCCCCAACCCTGCCTTCTTCACTAAATAAGCATGTAGCTCAGTGGTTTCCAAATTTGGCTGCACATTCATACCAAT
CACCAGGGGATTTTTTTAAAATCCTGATGCCCAACTTGCACTCCACATTAATTAACATGTCTAGGAGTGGGAGCCTGACAGACACCACTA
TTAAAAAAAAAAAAAATCCCCAAAATGATTCCAATAGACAACAAAGTTGAGGAACCACTGGCACATCCCAAGCTAAGATACAAGGTTAAA
TGGCCTTTTTAAGTATGTCATACTGGATCTTTAAATAAAGCAAGGCTTTTGTTACACTTTGTCATGTTATTAAAAGCAGACCTTTGGGCT
GTTTAACCGTGTAACAAAAATGCCACGTGAAAAATAAAAATTTTTATTGTATAGCAATTCTCTATAAATAGTAGATAATCTAAGTCCTTA
TTTTCTGATGGCTCTTGTTCCACTATTAACATTGTTTTTAATTTTTAAAATCCTATCAGCAGCCTCCTAATTAGCAGTGTTAGGAATTTG
CCTTATGTTTTCCATCTCATCTCCTGAACCTGTTATTCTGAGAACTCATAAATAAAATTCAGCCAAGATTAATCAATCAATCAATCAATC
AGTAGACGTCAGAGATAAGCAACTTTTTTTTCCATTTATTTGAAATAATATACAAGAATATAGTGTGCAAAATTTAGGGGCAACATCATG
AAGAAGTGTGATGAACTGAAATCAATTTTACAGCTGTGATTCCTAACCAGAAACACCACTTGGTAAGTAACATGAAAAGCCATGATTGTA
GCTCAGAGCAAAAGCAGCTGTATTGCCAATGTATTTGCTCTAATTTTAGACAGTTGGAGGAAAATTAAAGTGCAAGTGTTGCACTGCAGT
AAGTGCAAAGTCTGCCCCCACCATAAAGATTATGATGACAAAATATATTTAAGATACATGGCTGAGGAGATACAGAACACGAAGTTAAAA
AATACAATGGTGTTGACTGTTTGTTAATAGCACCATTACAGTGACTATATCCCAATGCTATTAACTAACTTTACCTTGGCCTGGGCTAGG
TCTCCATTGGAAATAATAACGGATGGCTGCTGCCACCTGGTGCATCAACTCAGCATGCCATGGTAACTGCAGCAGGTGGCTCTTAGGCTG
GGACACCAACACCAGCCACCTGCCCCATGTTCTGGTAGCCTCTTGGCACTGACCAGACTAGGAGCGCCTATGTTTGGCACAGATGCTGAG
CCATGTGGTGGTTACTAGAGGAAAGGCCGACTCCCAGCTTCTGCTTCATTTCATCATGTGTACAATACAGATTAATAAGCAGTAAGGAGC
CAATGTATAAACAGCAGTTACATATTTTTTAAATTCCCCTTTCGTACAATTTAAAATAAAACATGTATACACTTCTCCTCTCTTTCTACT
GTACTTTAGCACCACAGGATATCAATTTTCAAGCCTATTATTACCTGATAGACATATATGAAGTTTGGAAGAAAAATAAGGCAATTTGGT

>98621_98621_5_VWA8-COG5_VWA8_chr13_42524072_ENST00000379310_COG5_chr7_107002865_ENST00000347053_length(amino acids)=610AA_BP=81
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYRGPGRSTMPT
PGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAF
EGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQPYEAAYLSKSLSRLFDPINL
VFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQ
SVTKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDYFKHFECLDFVFDNTEAIAQRA
VELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQASEHVASSPALGDVIPFSIIIQFLFTRAPAE

--------------------------------------------------------------
>98621_98621_6_VWA8-COG5_VWA8_chr13_42524072_ENST00000379310_COG5_chr7_107002865_ENST00000393603_length(transcript)=4528nt_BP=310nt
ACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGACAGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTC
CTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGAC
AGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTG
AAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACAGGGGACCTGGACGATCTACCATGCCAACCCCAGGAAATACTGCAGCTTTG
CGTGCCTCATTCTGGACCAATATGGAGAAACTTATGGATCATATTTATGCTGTTTGTGGACAGGTACAACATCTACAAAAAGTATTGGCC
AAGAAGAGAGATCCTGTTTCTCACATTTGTTTCATTGAAGAAATAGTTAAGGATGGACAACCGGAAATTTTCTACACATTTTGGAATTCA
GTTACTCAGGCACTTTCTTCTCAATTTCATATGGCAACAAACTCTTCGATGTTTTTGAAGCAGGCATTTGAAGGAGAATACCCTAAATTA
TTACGTCTTTATAATGACTTATGGAAGCGTCTTCAACAATACAGTCAGCATATCCAAGGGAATTTTAATGCAAGTGGAACTACAGACCTC
TATGTTGACCTACAACACATGGAAGATGATGCACAAGATATATTCATACCAAAAAAGCCAGATTATGATCCAGAAAAGGCTTTGAAAGAC
TCACTACAACCCTATGAGGCTGCTTATCTATCAAAATCCTTATCTCGACTCTTCGATCCTATCAACTTGGTTTTTCCCCCGGGTGGTCGT
AATCCTCCTTCCTCTGATGAACTTGATGGTATTATTAAAACTATAGCAAGTGAACTAAATGTTGCTGCTGTTGATACAAACCTCACATTA
GCTGTGTCAAAAAATGTGGCAAAGACCATCCAGTTATACAGTGTAAAATCAGAGCAGCTTCTCTCCACACAAGGAGATGCAAGTCAGGTG
ATTGGGCCTCTTACTGAAGGACAGAGAAGAAATGTGGCAGTAGTGAATTCATTGTATAAGTTGCACCAATCAGTAACAAAGGTTGTTTCC
AGTCAGAGCTCATTCCCACTGGCAGCTGAGCAAACTATAATTTCAGCTCTAAAGGCTATTCATGCTCTTATGGAAAATGCTGTGCAACCC
TTACTCACTTCTGTGGGAGATGCTATAGAGGCCATAATCATCACCATGCATCAAGAAGACTTTTCTGGGTCATTATCCAGCTCAGGAAAA
CCTGATGTTCCTTGTTCTCTGTACATGAAGGAGCTACAAGGTTTCATTGCCAGAGTTATGAGTGACTATTTTAAACACTTTGAATGCTTG
GATTTTGTCTTTGACAACACTGAGGCTATTGCCCAAAGAGCTGTTGAACTTTTTATCCGCCATGCCAGTCTCATAAGACCTCTTGGTGAA
GGTGGGAAAATGCGACTTGCTGCTGATTTTGCACAGATGGAGTTGGCTGTGGGTCCATTCTGTAGACGAGTATCTGATTTAGGAAAGTCC
TATCGGATGCTGAGATCATTCAGACCTCTGCTCTTCCAGGCAAGTGAACATGTAGCCAGTAGTCCTGCATTGGGGGATGTGATTCCGTTC
AGCATCATTATTCAGTTTTTGTTCACGAGAGCACCCGCTGAACTGAAATCTCCTTTCCAGAGGGCAGAGTGGTCCCACACACGCTTCTCT
CAGTGGCTGGATGACCATCCATCTGAAAAGGACAGGCTCCTCCTCATCAGGTAAAGCCAGGTGCTCTGGGGGCACCCATCTGGTCTGGAA
GCCCAAGGAGGGTGGGGATGCAAGAGAGGATGAAGGAGCAGTGCCTGGGGGCATGGACATGTGACTGCACCTTCCAGTGGCGGGCCACCT
CACTGCCTAGGCACGGGTGCTGGAGCAACCAGCAGTTGGAAATGTTGGCCACAACATCTTTTGCTTTCTTTCATTCCAAACCTTCATATC
CCTGATGTGCAATCCTGTGTCCCATGCAACCCTAAGGACCATGCATTTGTACCTTTGAAAATCATCATTTGCTATGAAAAGTTTTGCCCT
AGCTCCGCATCTTTTACTTCATTTTTATGTGCTGCAGTTACTGAATTGGTGGAACACAGATGTGAGTGAATTTTTAAAAATACCCAAGTG
CGAAACAGTTCTGAGGAGGAAACAAGAACAACCCAGCAGCCACTTGGATACCATGGCCCTCCAGTAGTGCCCCATGAATGCATTCACATA
CATACGCATGTGCTCTTGCCCACACGTGCACACACCCCCATGTACCCCAACCATGCCCAGGGTGGGGTGCTTTAACTGTCATACATGGCT
TATTAAGCAACACTCTTCCCTGCAACTGCTCTCACCATCACCAGAGACCTCTCAGCCACCAAACATTCCCATTTTTACCTTACCACTCTG
TAGCTTTAGCTACAGTTGACCGCCATTTCCTTCTGTAAACTCATAAACTGGGACTCAGCACATTTTTATTGATGCTGAGCTCACATTTTA
TCAGCATGGTAGGCCCTGGGCCAGGAACCGAGGATACGAAGTAAGCCGAGATATGGCCCTGTCCTCTCAGAGCTTGCATTACACCACAGC
CATCTGTTTCTGTTCTAACTTCTCTGGCCATTTTTTTTTGTGTGTCATTTGCTGAATTATCTTCTTCTAGCCATTCCTTAAATGCTATCA
TTTCCCATATTTTCTTCTTCTCATCCTGCCTCTGCCTTGGTTCCCAGGTGAGCTTGTCCAGACCCATGCCTCTAGTGCCCCTTCTATACT
TAAGAGCCCTCAGGTCTGTGACTGCCTCTGGATGGGGCCTTGGCCCAGTAAACTTGCTATCATATGTCACCACCCACAGAAATCTCAACC
CCAGAATGGTCAAAATAATTCTAATCTTTTCTCTCAAACCTTCTCATTCTCTTATACTCCCTGTCTTGGTTGGGAGGTCACAATCACCTA
ACTAGCCAAGCCGGAAAACCTTTACATCATCATTCAACTCCTCTGTCATCCTTATTCCTCAAACCCACTCTGTTGCGTCTCTAAAATAGC
TCTTGAAGTCATTCTCAACTCTCCCAGGGGATCCCAATTCTGTTGGTCTGGGCCCACTGCACCCAGTGATCCTTTGTTAGCCTGTGTCAG
GTGATGAGTTGAGTTCCCTAAAGCCAGAGTGGGGCTGACATGATGAGGTGGTTCTAAACCACATGTGCACACAAGAATCATTTACATAGC
TTGGAAAATTCCTAGTGCCCAGGTCTCTCACCCTTGCCTACCTCAGAATCTCCAGGGTAGGCCTGCTATCAGGATTTCTCTATAGCTCCC
CAAGAAGGTCCAGGGTGCAGCCAAGGGCGTGAACCCCTGCCATAGTGGGTCATATTTCAGTTAGGATGAAAGACTGCTGAGGAAGCTATG
ACAGGTCAGTAAGAACCATCAGCCTGTCAGCTTTGTTTCCAGAAGTGACCCTGAGCCCTCAAGCTTGGTACCCACATCCCACATGAGCCA
CTGGCCCTCTGGGCGTATGTGTGGATAAAGATTAGCTCGGACCCTGCTCTTTTTCCTTGCTTATCTGTTACTCAGCTATGAACATCTGAC
ACAGAAATGGGAGAGGTTACCAGCCCCGGTGAATGTTCCTGGTAAAATCTGCCCTCGGGAAAGGCTTTGGATTTGGGTGAGGAGTTTGGG
CCTGGGCTAACACAGGGATTTGCAATGTCTGTGTGGATTATTTTTCCCGAGTCCCAAAGATTCACTCAGCTGCAACACACTCAGTCGTCT
TAAAAAGAGGATTCAGTTAATTGAACACGTTCATTTTTCTCATCTTAACAAGTTGGTCATTTTTGTCGTCTTAACAAGTTGGAATGAGTT
CATCCAAAACAGTTGTCCTGCTGTGTGTACATCACAAATCTGTTTTCTTTTGCTTCTCTTTAAAAATGTCTCCTGAGTGATTTCATCAGC
AGTGCTGTTGCTAAGCCTATATTTAGCAACTGAAAATCATGCTCAGAAATACTGTCATGCTTTTTTAAAAAGGCATATCCATCCCTCCAC
ACATGGCTGATTCCAGAACCTTCATGCCCTTAGCAAAAAATTGAGCTGTCCTTCAGGGTTTCAAAAAAAGTACTGTACTCCTGCTGCACC
CCAGGCTCTTGGCAAGGAGGGGACTTTTGTCCTAGAGAATGTTCTTTCTTATGTATTATTGCAAAACAATTTTGTTCTTGCATACTGAAG
CATCACTGGATGAATTTCTTTCCCCTGTAGACAAACCGAGGGTGAGTATTGCTCTTTAAATGTCAGTAAATTTGTTTTAGCTTCTGGGGC
AAACCTTGTTGTATACTCATTCTGTTCCTCCCAGCATAATATGTTAGGTTGTCATAAAATAGGGCAAATTGAGGATAGTGTAACTACTGC

>98621_98621_6_VWA8-COG5_VWA8_chr13_42524072_ENST00000379310_COG5_chr7_107002865_ENST00000393603_length(amino acids)=594AA_BP=81
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYRGPGRSTMPT
PGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAF
EGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQPYEAAYLSKSLSRLFDPINL
VFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQ
SVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDY
FKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQASEHVASSPA

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Fusion Gene PPI Analysis for VWA8-COG5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneVWA8chr13:42524072chr7:107002865ENST00000281496-2261_26180.333333333333331040.0PEX7
HgeneVWA8chr13:42524072chr7:107002865ENST00000379310-2451_26180.333333333333331906.0PEX7


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for VWA8-COG5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for VWA8-COG5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVWA8C0004352Autistic Disorder1CTD_human
TgeneC3150876COG5 congenital disorder of glycosylation3CTD_human;GENOMICS_ENGLAND
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0014378Enterovirus Infections1CTD_human
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human