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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:VPS13C-HERC1 (FusionGDB2 ID:98308) |
Fusion Gene Summary for VPS13C-HERC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VPS13C-HERC1 | Fusion gene ID: 98308 | Hgene | Tgene | Gene symbol | VPS13C | HERC1 | Gene ID | 54832 | 8925 |
| Gene name | vacuolar protein sorting 13 homolog C | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | |
| Synonyms | PARK23 | MDFPMR|p532|p619 | |
| Cytomap | 15q22.2 | 15q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vacuolar protein sorting-associated protein 13C | probable E3 ubiquitin-protein ligase HERC1HECT domain and RCC1-like domain-containing protein 1HECT-type E3 ubiquitin transferase HERC1guanine nucleotide exchange factor p532hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q15751 | |
| Ensembl transtripts involved in fusion gene | ENST00000249837, ENST00000261517, ENST00000395896, ENST00000395898, ENST00000558919, | ENST00000443617, | |
| Fusion gene scores | * DoF score | 18 X 18 X 9=2916 | 11 X 12 X 6=792 |
| # samples | 18 | 12 | |
| ** MAII score | log2(18/2916*10)=-4.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/792*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: VPS13C [Title/Abstract] AND HERC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | VPS13C(62232846)-HERC1(63904755), # samples:3 | ||
| 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 |
| Fusion gene breakpoints across VPS13C (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across HERC1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene 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 | STAD | TCGA-FP-8631-01A | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - |
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Fusion Gene ORF analysis for VPS13C-HERC1 |
| 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 | ENST00000249837 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - |
| In-frame | ENST00000261517 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - |
| In-frame | ENST00000395896 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - |
| In-frame | ENST00000395898 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - |
| intron-3CDS | ENST00000558919 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - |
| 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) |
| ENST00000249837 | VPS13C | chr15 | 62232846 | - | ENST00000443617 | HERC1 | chr15 | 63904755 | - | 6526 | 5571 | 3 | 6062 | 2019 |
| ENST00000261517 | VPS13C | chr15 | 62232846 | - | ENST00000443617 | HERC1 | chr15 | 63904755 | - | 6630 | 5675 | 56 | 6166 | 2036 |
| ENST00000395896 | VPS13C | chr15 | 62232846 | - | ENST00000443617 | HERC1 | chr15 | 63904755 | - | 6630 | 5675 | 56 | 6166 | 2036 |
| ENST00000395898 | VPS13C | chr15 | 62232846 | - | ENST00000443617 | HERC1 | chr15 | 63904755 | - | 6501 | 5546 | 56 | 6037 | 1993 |
| 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 |
| ENST00000249837 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - | 0.000111705 | 0.9998883 |
| ENST00000261517 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - | 0.000102872 | 0.9998971 |
| ENST00000395896 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - | 0.000102872 | 0.9998971 |
| ENST00000395898 | ENST00000443617 | VPS13C | chr15 | 62232846 | - | HERC1 | chr15 | 63904755 | - | 0.000109126 | 0.9998908 |
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Fusion Genomic Features for VPS13C-HERC1 |
| 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. |
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| 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 VPS13C-HERC1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:62232846/chr15:63904755) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | HERC1 |
| 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: Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. {ECO:0000269|PubMed:15642342, ECO:0000269|PubMed:8861955, ECO:0000269|PubMed:9233772}. |
| 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 | VPS13C | chr15:62232846 | chr15:63904755 | ENST00000249837 | - | 45 | 83 | 145_179 | 1824 | 3711.0 | Compositional bias | Lys-rich |
| Hgene | VPS13C | chr15:62232846 | chr15:63904755 | ENST00000261517 | - | 47 | 85 | 145_179 | 1867 | 3754.0 | Compositional bias | Lys-rich |
| Hgene | VPS13C | chr15:62232846 | chr15:63904755 | ENST00000395896 | - | 47 | 82 | 145_179 | 1867 | 3629.0 | Compositional bias | Lys-rich |
| Hgene | VPS13C | chr15:62232846 | chr15:63904755 | ENST00000395898 | - | 45 | 80 | 145_179 | 1824 | 3586.0 | Compositional bias | Lys-rich |
| - 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 |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 1349_1378 | 4698 | 4862.0 | Compositional bias | Note=Glu-rich | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 2002_2193 | 4698 | 4862.0 | Domain | B30.2/SPRY | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 4501_4848 | 4698 | 4862.0 | Domain | HECT | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3426_3465 | 4698 | 4862.0 | Repeat | Note=WD 1 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3484_3522 | 4698 | 4862.0 | Repeat | Note=WD 2 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3524_3572 | 4698 | 4862.0 | Repeat | Note=WD 3 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3580_3619 | 4698 | 4862.0 | Repeat | Note=WD 4 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3624_3663 | 4698 | 4862.0 | Repeat | Note=WD 5 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3667_3713 | 4698 | 4862.0 | Repeat | Note=WD 6 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 371_420 | 4698 | 4862.0 | Repeat | Note=RCC1 1 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3745_3784 | 4698 | 4862.0 | Repeat | Note=WD 7 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 3996_4044 | 4698 | 4862.0 | Repeat | Note=RCC1 8 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 4046_4099 | 4698 | 4862.0 | Repeat | Note=RCC1 9 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 4101_4151 | 4698 | 4862.0 | Repeat | Note=RCC1 10 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 4153_4203 | 4698 | 4862.0 | Repeat | Note=RCC1 11 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 4205_4256 | 4698 | 4862.0 | Repeat | Note=RCC1 12 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 421_475 | 4698 | 4862.0 | Repeat | Note=RCC1 2 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 4258_4308 | 4698 | 4862.0 | Repeat | Note=RCC1 13 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 4310_4360 | 4698 | 4862.0 | Repeat | Note=RCC1 14 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 476_528 | 4698 | 4862.0 | Repeat | Note=RCC1 3 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 529_578 | 4698 | 4862.0 | Repeat | Note=RCC1 4 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 580_631 | 4698 | 4862.0 | Repeat | Note=RCC1 5 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 633_682 | 4698 | 4862.0 | Repeat | Note=RCC1 6 | |
| Tgene | HERC1 | chr15:62232846 | chr15:63904755 | ENST00000443617 | 75 | 78 | 683_735 | 4698 | 4862.0 | Repeat | Note=RCC1 7 |
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Fusion Gene Sequence for VPS13C-HERC1 |
| 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. |
| >98308_98308_1_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000249837_HERC1_chr15_63904755_ENST00000443617_length(transcript)=6526nt_BP=5571nt GGCCTGCGCCGGAGGGGCTGTCATTTGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTC AGCGCCACCATGGTGCTGGAGTCGGTGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTG AAGCTGGGCATCTGGGGCGGAAATGTGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTC AAGGCTGGCCAAATTGATAAATTAACTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATAC CTGCTTGTTGTCCCTGGAGCAAGTATTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGA ATTGAAGAAGCCCTTCAAAAAGCAGCAGAAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAATTGGCAACTCAAGTA ATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTCTTTCATTTGGTGTC ACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTATATACAAGCTTATA CGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGGATCAGCTGAAAAAT GAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCTACATGAATCCTTAT GCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAACCTCAGTACTTAAGT ATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCACTTCATACCAATGGT CGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGAGTAACATAAAAAAG CACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATACAGAAAGAAATTCAG GACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTGGGCAAAAATTAAGG AAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAAAGGACGAAGAATCA TTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTGAGAGTACCCACAAC CTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAAACAAGAATATTCCA GAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAGAAGCGAAATTAGAA CACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCATCCTTGCTTAAAATT AAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCTATGATGCTAAAACT GTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGAAGCTGGAAGAAATT AAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGCCTTCTTATCTAGTA GTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTAAAGATCAAGGTTTA CAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATGTACAACTACTTTTT GCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATATTCATGTTGAGTTG GCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGAGAATTTCTGACCAG AAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGACAGGTATCCTCAATT CCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATGATGAGTATTTTGAT GCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATGAGGAGCTCATCAAT CTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAGTATTTAATGTTACT CAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATTATCATGAAATTGAA GGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATATTAAGGCTGATAAG AATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGTTGCTGCAAACACAA GCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGGTACAAATTTCAACT GAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGCTATTTGCCAAGTTG AATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCCTTTCTCTCCAGTCA AGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAGCTGTGTCAATAATG GGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCAAAGTGGATGGTGTG CTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATAATTTCCAGACAGCC AAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGAGTTTTCGTGTTTCC ATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATCTTGGGTTAATCAGA GTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGCTAACAAAGCTTACA CTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTCTTGTAAATCGGAAT CTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAAATCAAGAAGATCTT AATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTACAAGAGACAGGTGAA ATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAGAAATTAGGTCTGTA GACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAGGAAGGCCTTTACAT GAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAAAAATTAGTATGCAG TGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTCTGAAAATGTTACTG ACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTGCATCCTTAGACTTA GTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTTCTGAGAAGGAATCC GAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATGTGTTTGATTTAAAG ATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATGGAATGGATGCCTCT ATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGTCCATTCACAAAAAG GCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCTATGCTGATATGTCC AAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTTTGAACTTCCTCAAC AATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAGACTTGGCTCAAAAG AGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATGCTGTTATAGCAGAT CTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATAAAATGAACATCGAA CTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAGTCAACATGCTTTTG TCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTATGCAGGTGGCTGCA GTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGGTGTGTGGGATGCCC GAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGTTCTGGCACACGCTG GAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTGCTGACATTTCTCAG AGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGCTGCCCCCGTACTCC AGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGCTCTCGAGAAACGTG GACAACGCCGAGGGCTCCGACACTGACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGCTCACTTCTGATTTG ATGTTGATATACTTTTATGGTAACTACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTTAGTTACTCTAAATG TAACAAAGAAATTAGATGTTTTTATTTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTTTTTCCCTCCATATT TTTGGTCACTTTTGATAAGTTTGCATGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATCCACCCAGTGAACAT GAAATTGTACATTGTGTATAATTGTTCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTAATTTGAATTGCCTG >98308_98308_1_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000249837_HERC1_chr15_63904755_ENST00000443617_length(amino acids)=2019AA_BP=1855 MRRRGCHLQRWSQPSAAPGGSGSSLSLCLSATMVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVK AGQIDKLTLKIPWKNLYGEAVVATLEGLYLLVVPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKDKPKEAKKDTFVEKLATQVI KNVQVKITDIHIKYEDDVTDPKRPLSFGVTLGELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCSMSYQRSREQILDQLKNE ILTSGNIPPNYQYIFQPISASAKLYMNPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKYKPYLPLHTNGR RWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILARQQAQVEVIRSGQKLRK KSADTGEKRGGWFSGLWGKKESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTSVTIRENKNIPE ILKIQIIGLGTQVSQRPGAQALKVEAKLEHWYITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQTLIVQSQPVEVIYDAKTV NAVVEFFQSNKGLDLEQITSATLMKLEEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGTFQLNSKDQGLQ KTTNSSLEEIMDKAYDKFDVEIKNVQLLFARAEETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARFKVSGGLPLMHVRISDQK MKDVLYLMNSIPLPQKSSAQSPERQVSSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKAAEVPNEELINL LLKFEIKEVILEFTKQQKEEDTILVFNVTQLGTEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSDKPGLDLLKVEYIKADKN GPSFQTAFGKTEQTVKVAFSSLNLLLQTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSDIIDFRLFAKLN AFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQSLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPDATEGDLYTDMSKVDGVL SLNVGCIQIVYLHKFLMSLLNFLNNFQTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTNAVVVDLGLIRV HNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYRTVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEIKGHLDSMNVSLNQEDLN LLFRILTENLCEGTEDLDKVKPRVQETGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMKKSEKKGRPLHE LNVLQLGMEAKVKTYDMTAKAYLKKISMQCFDFTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIHDSTKQRLKVSFASLDLV LHLEALLSFMDFLSSAAPFSEPSSSEKESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIADIKIHGMDASI SVKPKQTDVFARLKDIIVMNVDLQSIHKKAVSILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQIVYVHKFFMSLLNFLNN FQTAKEALSTATVQAAERAASSMKDLAQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSLPPVIDKMNIEL TQLKLSRTILQASLPQNDIEILKPVNMLLSIQRNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLLSLLTAKQLEQMVCGMPE ISVEVLKKVVRYREVDEQHQLVQWFWHTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSLPTSQTCFFQLRLPPYSS -------------------------------------------------------------- >98308_98308_2_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000261517_HERC1_chr15_63904755_ENST00000443617_length(transcript)=6630nt_BP=5675nt TGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTCAGCGCCACCATGGTGCTGGAGTCGG TGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGCATCTGGGGCGGAAATG TGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGCCAAATTGATAAATTAA CTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTTGTCCCTGGAGCAAGTA TTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAAGCCCTTCAAAAAGCAG CAGAAAAAGGCACACATTCAGGGGAGTTCATATATGGCTTGGAGAACTTTGTTTACAAGGACATCAAGCCTGGACGTAAACGTAAAAAGC ACAAAAAACATTTTAAGAAACCTTTTAAAGGTCTTGATCGTTCAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAAT TGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTC TTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTA TATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGG ATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCT ACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAAC CTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCAC TTCATACCAATGGTCGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGA GTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATAC AGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTG GGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAA AGGACGAAGAATCATTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTG AGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAA ACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAG AAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCAT CCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCT ATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGA AGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGC CTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTA AAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATG TACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATA TTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGA GAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGAC AGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATG ATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATG AGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAG TATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATT ATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATA TTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGT TGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGG TACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGC TATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCC TTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAG CTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCA AAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATA ATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGA GTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATC TTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGC TAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTC TTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAA ATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTAC AAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAG AAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAG GAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAA AAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTC TGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTG CATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTT CTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATG TGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATG GAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGT CCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCT ATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTT TGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAG ACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATG CTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATA AAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAG TCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTA TGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGG TGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGT TCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTG CTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGC TGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGC TCTCGAGAAACGTGGACAACGCCGAGGGCTCCGACACTGACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGC TCACTTCTGATTTGATGTTGATATACTTTTATGGTAACTACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTT AGTTACTCTAAATGTAACAAAGAAATTAGATGTTTTTATTTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTT TTTCCCTCCATATTTTTGGTCACTTTTGATAAGTTTGCATGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATC CACCCAGTGAACATGAAATTGTACATTGTGTATAATTGTTCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTA >98308_98308_2_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000261517_HERC1_chr15_63904755_ENST00000443617_length(amino acids)=2036AA_BP=1872 MCLSATMVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLE GLYLLVVPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKGTHSGEFIYGLENFVYKDIKPGRKRKKHKKHFKKPFKGLDRSKDKP KEAKKDTFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLGELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCS MSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYMNPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRN APYRKYKPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILA RQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTL KLVSTSVTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWYITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQT LIVQSQPVEVIYDAKTVNAVVEFFQSNKGLDLEQITSATLMKLEEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLL ILDFGTFQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARAEETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARF KVSGGLPLMHVRISDQKMKDVLYLMNSIPLPQKSSAQSPERQVSSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKG SELKKAAEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLGTEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSD KPGLDLLKVEYIKADKNGPSFQTAFGKTEQTVKVAFSSLNLLLQTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIV SSRDSDIIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQSLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPD ATEGDLYTDMSKVDGVLSLNVGCIQIVYLHKFLMSLLNFLNNFQTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQ SSISTNAVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYRTVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEI KGHLDSMNVSLNQEDLNLLFRILTENLCEGTEDLDKVKPRVQETGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEV VVTLMKKSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFDFTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIH DSTKQRLKVSFASLDLVLHLEALLSFMDFLSSAAPFSEPSSSEKESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCD QKCNIADIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVSILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQ IVYVHKFFMSLLNFLNNFQTAKEALSTATVQAAERAASSMKDLAQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVP MEHYSLPPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQRNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLL SLLTAKQLEQMVCGMPEISVEVLKKVVRYREVDEQHQLVQWFWHTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSL -------------------------------------------------------------- >98308_98308_3_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000395896_HERC1_chr15_63904755_ENST00000443617_length(transcript)=6630nt_BP=5675nt TGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTCAGCGCCACCATGGTGCTGGAGTCGG TGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGCATCTGGGGCGGAAATG TGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGCCAAATTGATAAATTAA CTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTTGTCCCTGGAGCAAGTA TTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAAGCCCTTCAAAAAGCAG CAGAAAAAGGCACACATTCAGGGGAGTTCATATATGGCTTGGAGAACTTTGTTTACAAGGACATCAAGCCTGGACGTAAACGTAAAAAGC ACAAAAAACATTTTAAGAAACCTTTTAAAGGTCTTGATCGTTCAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAAT TGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTC TTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTA TATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGG ATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCT ACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAAC CTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCAC TTCATACCAATGGTCGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGA GTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATAC AGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTG GGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAA AGGACGAAGAATCATTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTG AGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAA ACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAG AAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCAT CCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCT ATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGA AGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGC CTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTA AAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATG TACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATA TTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGA GAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGAC AGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATG ATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATG AGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAG TATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATT ATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATA TTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGT TGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGG TACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGC TATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCC TTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAG CTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCA AAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATA ATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGA GTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATC TTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGC TAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTC TTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAA ATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTAC AAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAG AAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAG GAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAA AAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTC TGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTG CATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTT CTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATG TGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATG GAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGT CCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCT ATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTT TGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAG ACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATG CTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATA AAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAG TCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTA TGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGG TGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGT TCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTG CTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGC TGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGC TCTCGAGAAACGTGGACAACGCCGAGGGCTCCGACACTGACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGC TCACTTCTGATTTGATGTTGATATACTTTTATGGTAACTACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTT AGTTACTCTAAATGTAACAAAGAAATTAGATGTTTTTATTTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTT TTTCCCTCCATATTTTTGGTCACTTTTGATAAGTTTGCATGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATC CACCCAGTGAACATGAAATTGTACATTGTGTATAATTGTTCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTA >98308_98308_3_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000395896_HERC1_chr15_63904755_ENST00000443617_length(amino acids)=2036AA_BP=1872 MCLSATMVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLE GLYLLVVPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKGTHSGEFIYGLENFVYKDIKPGRKRKKHKKHFKKPFKGLDRSKDKP KEAKKDTFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLGELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCS MSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYMNPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRN APYRKYKPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILA RQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTL KLVSTSVTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWYITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQT LIVQSQPVEVIYDAKTVNAVVEFFQSNKGLDLEQITSATLMKLEEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLL ILDFGTFQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARAEETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARF KVSGGLPLMHVRISDQKMKDVLYLMNSIPLPQKSSAQSPERQVSSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKG SELKKAAEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLGTEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSD KPGLDLLKVEYIKADKNGPSFQTAFGKTEQTVKVAFSSLNLLLQTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIV SSRDSDIIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQSLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPD ATEGDLYTDMSKVDGVLSLNVGCIQIVYLHKFLMSLLNFLNNFQTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQ SSISTNAVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYRTVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEI KGHLDSMNVSLNQEDLNLLFRILTENLCEGTEDLDKVKPRVQETGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEV VVTLMKKSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFDFTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIH DSTKQRLKVSFASLDLVLHLEALLSFMDFLSSAAPFSEPSSSEKESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCD QKCNIADIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVSILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQ IVYVHKFFMSLLNFLNNFQTAKEALSTATVQAAERAASSMKDLAQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVP MEHYSLPPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQRNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLL SLLTAKQLEQMVCGMPEISVEVLKKVVRYREVDEQHQLVQWFWHTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSL -------------------------------------------------------------- >98308_98308_4_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000395898_HERC1_chr15_63904755_ENST00000443617_length(transcript)=6501nt_BP=5546nt TGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTCAGCGCCACCATGGTGCTGGAGTCGG TGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGCATCTGGGGCGGAAATG TGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGCCAAATTGATAAATTAA CTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTTGTCCCTGGAGCAAGTA TTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAAGCCCTTCAAAAAGCAG CAGAAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAATTGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCA CAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTCTTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGA CTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTATATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACT GGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGGATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATAC CCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCTACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCA AACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAACCTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGG ATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCACTTCATACCAATGGTCGACGATGGTGGAAATATGCAATTG ATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGAGTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATA AAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATACAGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTT TTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTGGGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGA AACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAAAGGACGAAGAATCATTGATTCCTGAAACTATTGATGACC TTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTGAGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTG CCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAAACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTG GCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAGAAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGAC AGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCATCCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATA GTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCTATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTC AATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGAAGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTA CACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGCCTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATG AAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTAAAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGG AAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATGTACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAA AGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATATTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACA TTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGAGAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGA TGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGACAGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAG GTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATGATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTT GTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATGAGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAG AAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAGTATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGA GAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATTATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACT TGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATATTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTT TTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGTTGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACC TCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGGTACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTC TGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGCTATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCA ACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCCTTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGAC TAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAGCTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATT TGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCAAAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTC AGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATAATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTG CCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGAGTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGG TTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATCTTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGT CTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGCTAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAG GCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTCTTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGG TGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAAATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAG AAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTACAAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTA TATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAGAAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATT TTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAGGAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAA TGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAAAAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAG GGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTCTGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAG AATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTGCATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTT CCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTTCTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGT CCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATGTGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTA ATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATGGAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTG ATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGTCCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAG TCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCTATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTA AAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTTTGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTT TGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAGACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTA ATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATGCTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACA AGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATAAAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAA CTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAGTCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAG CATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTATGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTG TTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGGTGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGA AAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGTTCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGG TGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTGCTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATA GGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGCTGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCC TGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGCTCTCGAGAAACGTGGACAACGCCGAGGGCTCCGACACTG ACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGCTCACTTCTGATTTGATGTTGATATACTTTTATGGTAACT ACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTTAGTTACTCTAAATGTAACAAAGAAATTAGATGTTTTTAT TTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTTTTTCCCTCCATATTTTTGGTCACTTTTGATAAGTTTGCA TGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATCCACCCAGTGAACATGAAATTGTACATTGTGTATAATTGT TCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTAATTTGAATTGCCTGTTCAGGGTTCCTTATGCAGAGAAAT >98308_98308_4_VPS13C-HERC1_VPS13C_chr15_62232846_ENST00000395898_HERC1_chr15_63904755_ENST00000443617_length(amino acids)=1993AA_BP=1829 MCLSATMVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLE GLYLLVVPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKDKPKEAKKDTFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLS FGVTLGELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCSMSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYM NPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKYKPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSN IKKHRQLLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILARQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKD EESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTSVTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEA KLEHWYITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQTLIVQSQPVEVIYDAKTVNAVVEFFQSNKGLDLEQITSATLMKL EEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGTFQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQ LLFARAEETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARFKVSGGLPLMHVRISDQKMKDVLYLMNSIPLPQKSSAQSPERQV SSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKAAEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVF NVTQLGTEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSDKPGLDLLKVEYIKADKNGPSFQTAFGKTEQTVKVAFSSLNLLL QTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSDIIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLS LQSRKQSLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPDATEGDLYTDMSKVDGVLSLNVGCIQIVYLHKFLMSLLNFLNNF QTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTNAVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLT KLTLYRTVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEIKGHLDSMNVSLNQEDLNLLFRILTENLCEGTEDLDKVKPRVQE TGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMKKSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKI SMQCFDFTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIHDSTKQRLKVSFASLDLVLHLEALLSFMDFLSSAAPFSEPSSSE KESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIADIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSI HKKAVSILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQIVYVHKFFMSLLNFLNNFQTAKEALSTATVQAAERAASSMKDL AQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSLPPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVN MLLSIQRNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLLSLLTAKQLEQMVCGMPEISVEVLKKVVRYREVDEQHQLVQWFW HTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSLPTSQTCFFQLRLPPYSSQLVMAERLRYAINNCRSIDMDNYMLS -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for VPS13C-HERC1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for VPS13C-HERC1 |
| 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 VPS13C-HERC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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