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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:VWA8-COG5 (FusionGDB2 ID:97949) |
Fusion Gene Summary for VWA8-COG5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VWA8-COG5 | Fusion gene ID: 97949 | Hgene | Tgene | Gene symbol | VWA8 | COG5 | Gene ID | 23078 | 10466 |
| Gene name | von Willebrand factor A domain containing 8 | component of oligomeric golgi complex 5 | |
| Synonyms | KIAA0564|P7BP2 | CDG2I|GOLTC1|GTC90 | |
| Cytomap | 13q14.11 | 7q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | von Willebrand factor A domain-containing protein 8PEX7-binding protein 2 | conserved oligomeric Golgi complex subunit 513S golgi transport complex 1 90 kDa subunitCOG complex subunit 5conserved oligomeric Golgi complex protein 5 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | A3KMH1 | Q9UP83 | |
| Ensembl transtripts involved in fusion gene | ENST00000379310, ENST00000281496, ENST00000478987, | ENST00000347053, ENST00000297135, ENST00000393603, ENST00000475638, | |
| Fusion gene scores | * DoF score | 13 X 12 X 6=936 | 14 X 10 X 8=1120 |
| # samples | 13 | 13 | |
| ** MAII score | log2(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 breakpoint | VWA8(42524072)-COG5(107002865), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | COG5 | GO:0048219 | inter-Golgi cisterna vesicle-mediated transport | 9792665 |
| Fusion 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. |
| Fusion 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. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | PRAD | TCGA-EJ-5510-01A | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
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Fusion Gene ORF analysis for VWA8-COG5 |
| 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 | ENST00000347053 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| In-frame | ENST00000379310 | ENST00000297135 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| In-frame | ENST00000379310 | ENST00000393603 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| 5CDS-intron | ENST00000379310 | ENST00000475638 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| In-frame | ENST00000281496 | ENST00000347053 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| In-frame | ENST00000281496 | ENST00000297135 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| In-frame | ENST00000281496 | ENST00000393603 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| 5CDS-intron | ENST00000281496 | ENST00000475638 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| intron-3CDS | ENST00000478987 | ENST00000347053 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| intron-3CDS | ENST00000478987 | ENST00000297135 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| intron-3CDS | ENST00000478987 | ENST00000393603 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| intron-intron | ENST00000478987 | ENST00000475638 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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 | 42524072 | - | ENST00000347053 | COG5 | chr7 | 107002865 | - | 3863 | 310 | 69 | 1901 | 610 |
| ENST00000379310 | VWA8 | chr13 | 42524072 | - | ENST00000297135 | COG5 | chr7 | 107002865 | - | 2917 | 310 | 69 | 1964 | 631 |
| ENST00000379310 | VWA8 | chr13 | 42524072 | - | ENST00000393603 | COG5 | chr7 | 107002865 | - | 4528 | 310 | 69 | 1853 | 594 |
| ENST00000281496 | VWA8 | chr13 | 42524072 | - | ENST00000347053 | COG5 | chr7 | 107002865 | - | 3899 | 346 | 12 | 1937 | 641 |
| ENST00000281496 | VWA8 | chr13 | 42524072 | - | ENST00000297135 | COG5 | chr7 | 107002865 | - | 2953 | 346 | 12 | 2000 | 662 |
| ENST00000281496 | VWA8 | chr13 | 42524072 | - | ENST00000393603 | COG5 | chr7 | 107002865 | - | 4564 | 346 | 12 | 1889 | 625 |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000379310 | ENST00000347053 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - | 0.000851598 | 0.99914837 |
| ENST00000379310 | ENST00000297135 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - | 0.001047953 | 0.99895203 |
| ENST00000379310 | ENST00000393603 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - | 0.001459506 | 0.9985405 |
| ENST00000281496 | ENST00000347053 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - | 0.000854055 | 0.999146 |
| ENST00000281496 | ENST00000297135 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - | 0.00106462 | 0.9989354 |
| ENST00000281496 | ENST00000393603 | VWA8 | chr13 | 42524072 | - | COG5 | chr7 | 107002865 | - | 0.001499916 | 0.9985001 |
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Fusion Genomic Features for VWA8-COG5 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution 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. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for VWA8-COG5 |
| Go to FGviewer for the breakpoints of 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VWA8 | COG5 |
| FUNCTION: Exhibits ATPase activity in vitro. {ECO:0000250|UniProtKB:Q8CC88}. | FUNCTION: Required for normal Golgi function. {ECO:0000250}. |
| 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 |
| Hgene | VWA8 | chr13:42524072 | chr7:107002865 | ENST00000281496 | - | 2 | 26 | 1714_1896 | 80.33333333333333 | 1040.0 | Domain | VWFA |
| Hgene | VWA8 | chr13:42524072 | chr7:107002865 | ENST00000379310 | - | 2 | 45 | 1714_1896 | 80.33333333333333 | 1906.0 | Domain | VWFA |
| Hgene | VWA8 | chr13:42524072 | chr7:107002865 | ENST00000281496 | - | 2 | 26 | 447_454 | 80.33333333333333 | 1040.0 | Nucleotide binding | ATP |
| Hgene | VWA8 | chr13:42524072 | chr7:107002865 | ENST00000379310 | - | 2 | 45 | 447_454 | 80.33333333333333 | 1906.0 | Nucleotide binding | ATP |
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Fusion Gene Sequence for VWA8-COG5 |
| 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. |
| >In-frame_ENST00000379310_ENST00000347053_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_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 >In-frame_ENST00000379310_ENST00000347053_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_length(amino acids)=610AA_start in transcript=69_stop in transcript=1901 MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYRGPGRSTMPT PGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAF EGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQPYEAAYLSKSLSRLFDPINL VFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQ SVTKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDYFKHFECLDFVFDNTEAIAQRA VELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQASEHVASSPALGDVIPFSIIIQFLFTRAPAE -------------------------------------------------------------- >In-frame_ENST00000379310_ENST00000297135_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_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 >In-frame_ENST00000379310_ENST00000297135_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_length(amino acids)=631AA_start in transcript=69_stop in transcript=1964 MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYRGPGRSTMPT PGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAF EGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQPYEAAYLSKSLSRLFDPINL VFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQ SVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDY FKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQASEHVASSPA LGDVIPFSIIIQFLFTRAPAELKSPFQRAEWSHTRFSQWLDDHPSEKDRLLLIRGALEAYVQSVRSREGKEFAPVYPIMVQLLQKAMSAL -------------------------------------------------------------- >In-frame_ENST00000379310_ENST00000393603_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_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 >In-frame_ENST00000379310_ENST00000393603_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_length(amino acids)=594AA_start in transcript=69_stop in transcript=1853 MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYRGPGRSTMPT PGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAF EGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQPYEAAYLSKSLSRLFDPINL VFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQ SVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDY FKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQASEHVASSPA -------------------------------------------------------------- >In-frame_ENST00000281496_ENST00000347053_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_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 >In-frame_ENST00000281496_ENST00000347053_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_length(amino acids)=641AA_start in transcript=12_stop in transcript=1937 MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN IGDVSYKLKIPKNPELVPQNYRGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPE IFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDY DPEKALKDSLQPYEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLS TQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQ GFIARVMSDYFKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQ ASEHVASSPALGDVIPFSIIIQFLFTRAPAELKSPFQRAEWSHTRFSQWLDDHPSEKDRLLLIRGALEAYVQSVRSREGKEFAPVYPIMV -------------------------------------------------------------- >In-frame_ENST00000281496_ENST00000297135_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_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 >In-frame_ENST00000281496_ENST00000297135_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_length(amino acids)=662AA_start in transcript=12_stop in transcript=2000 MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN IGDVSYKLKIPKNPELVPQNYRGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPE IFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDY DPEKALKDSLQPYEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLS TQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFS GSLSSSGKPDVPCSLYMKELQGFIARVMSDYFKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCR RVSDLGKSYRMLRSFRPLLFQASEHVASSPALGDVIPFSIIIQFLFTRAPAELKSPFQRAEWSHTRFSQWLDDHPSEKDRLLLIRGALEA -------------------------------------------------------------- >In-frame_ENST00000281496_ENST00000393603_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_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 >In-frame_ENST00000281496_ENST00000393603_TCGA-EJ-5510-01A_VWA8_chr13_42524072_-_COG5_chr7_107002865_length(amino acids)=625AA_start in transcript=12_stop in transcript=1889 MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN IGDVSYKLKIPKNPELVPQNYRGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPE IFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDY DPEKALKDSLQPYEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLS TQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFS GSLSSSGKPDVPCSLYMKELQGFIARVMSDYFKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCR -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for VWA8-COG5 |
| 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 |
| Hgene | VWA8 | chr13:42524072 | chr7:107002865 | ENST00000281496 | - | 2 | 26 | 1_261 | 80.33333333333333 | 1040.0 | PEX7 |
| Hgene | VWA8 | chr13:42524072 | chr7:107002865 | ENST00000379310 | - | 2 | 45 | 1_261 | 80.33333333333333 | 1906.0 | PEX7 |
| - 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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Related Drugs for VWA8-COG5 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for VWA8-COG5 |
| 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 | COG5 | C3150876 | COG5 congenital disorder of glycosylation | 3 | CTD_human;GENOMICS_ENGLAND |
| Tgene | COG5 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
| Tgene | COG5 | C0014378 | Enterovirus Infections | 1 | CTD_human |
| Tgene | COG5 | C0235480 | Paroxysmal atrial fibrillation | 1 | CTD_human |
| Tgene | COG5 | C2585653 | Persistent atrial fibrillation | 1 | CTD_human |
| Tgene | COG5 | C3468561 | familial atrial fibrillation | 1 | CTD_human |
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