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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:GMDS-VAPB (FusionGDB2 ID:HG2762TG9217) |
Fusion Gene Summary for GMDS-VAPB |
Fusion gene summary |
Fusion gene information | Fusion gene name: GMDS-VAPB | Fusion gene ID: hg2762tg9217 | Hgene | Tgene | Gene symbol | GMDS | VAPB | Gene ID | 2762 | 9217 |
Gene name | GDP-mannose 4,6-dehydratase | VAMP associated protein B and C | |
Synonyms | GMD|SDR3E1 | ALS8|VAMP-B|VAP-B | |
Cytomap | ('GMDS')('VAPB') 6p25.3 | 20q13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | GDP-mannose 4,6 dehydrataseGDP-D-mannose dehydrataseshort chain dehydrogenase/reductase family 3E, member 1 | vesicle-associated membrane protein-associated protein B/CVAMP (vesicle-associated membrane protein)-associated protein B and CVAMP-associated 33 kDa protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O60547 | . | |
Ensembl transtripts involved in fusion gene | ENST00000380815, ENST00000530927, ENST00000467288, | ||
Fusion gene scores | * DoF score | 28 X 19 X 15=7980 | 11 X 11 X 6=726 |
# samples | 32 | 12 | |
** MAII score | log2(32/7980*10)=-4.64024493622235 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/726*10)=-2.59693514238723 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GMDS [Title/Abstract] AND VAPB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | GMDS(1930337)-VAPB(57019133), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | GMDS-VAPB seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GMDS-VAPB seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. GMDS-VAPB seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. GMDS-VAPB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. GMDS-VAPB seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. |
* 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 |
Hgene | GMDS | GO:0019673 | GDP-mannose metabolic process | 9525924 |
Hgene | GMDS | GO:0042351 | 'de novo' GDP-L-fucose biosynthetic process | 9525924 |
Tgene | VAPB | GO:0019048 | modulation by virus of host morphology or physiology | 16227268 |
Tgene | VAPB | GO:0036498 | IRE1-mediated unfolded protein response | 20940299 |
Fusion gene breakpoints across GMDS (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 VAPB (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 | PAAD | TCGA-IB-7647-01A | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
ChimerDB4 | PAAD | TCGA-IB-7647 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
ChimerDB4 | PAAD | TCGA-IB-7647 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
ChimerDB4 | PAAD | TCGA-IB-7647 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
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Fusion Gene ORF analysis for GMDS-VAPB |
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 |
5CDS-3UTR | ENST00000380815 | ENST00000265619 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
5CDS-3UTR | ENST00000380815 | ENST00000265619 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
5CDS-3UTR | ENST00000380815 | ENST00000265619 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
5CDS-3UTR | ENST00000530927 | ENST00000265619 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
5CDS-3UTR | ENST00000530927 | ENST00000265619 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
5CDS-3UTR | ENST00000530927 | ENST00000265619 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
Frame-shift | ENST00000380815 | ENST00000395802 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
Frame-shift | ENST00000380815 | ENST00000395802 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
Frame-shift | ENST00000380815 | ENST00000395802 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
Frame-shift | ENST00000380815 | ENST00000475243 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
Frame-shift | ENST00000380815 | ENST00000475243 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
Frame-shift | ENST00000530927 | ENST00000395802 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
Frame-shift | ENST00000530927 | ENST00000395802 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
Frame-shift | ENST00000530927 | ENST00000395802 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
Frame-shift | ENST00000530927 | ENST00000475243 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
Frame-shift | ENST00000530927 | ENST00000475243 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
In-frame | ENST00000380815 | ENST00000475243 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
In-frame | ENST00000530927 | ENST00000475243 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
intron-3CDS | ENST00000467288 | ENST00000395802 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
intron-3CDS | ENST00000467288 | ENST00000395802 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
intron-3CDS | ENST00000467288 | ENST00000395802 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
intron-3CDS | ENST00000467288 | ENST00000475243 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
intron-3CDS | ENST00000467288 | ENST00000475243 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
intron-3CDS | ENST00000467288 | ENST00000475243 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
intron-3UTR | ENST00000467288 | ENST00000265619 | GMDS | chr6 | 1930337 | - | VAPB | chr20 | 57019133 | + |
intron-3UTR | ENST00000467288 | ENST00000265619 | GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + |
intron-3UTR | ENST00000467288 | ENST00000265619 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + |
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) |
ENST00000530927 | GMDS | chr6 | 1960101 | - | ENST00000475243 | VAPB | chr20 | 57019133 | + | 7626 | 601 | 48 | 689 | 213 |
ENST00000380815 | GMDS | chr6 | 1960101 | - | ENST00000475243 | VAPB | chr20 | 57019133 | + | 7938 | 913 | 42 | 1001 | 319 |
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 |
ENST00000530927 | ENST00000475243 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + | 0.000867777 | 0.9991322 |
ENST00000380815 | ENST00000475243 | GMDS | chr6 | 1960101 | - | VAPB | chr20 | 57019133 | + | 0.000648207 | 0.9993518 |
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Fusion Genomic Features for GMDS-VAPB |
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) |
GMDS | chr6 | 1960100 | - | VAPB | chr20 | 57019132 | + | 0.89937264 | 0.100627355 |
GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + | 0.000116405 | 0.99988353 |
GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + | 0.000116405 | 0.99988353 |
GMDS | chr6 | 1960100 | - | VAPB | chr20 | 57019132 | + | 0.89937264 | 0.100627355 |
GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + | 0.000116405 | 0.99988353 |
GMDS | chr6 | 1930336 | - | VAPB | chr20 | 57019132 | + | 0.000116405 | 0.99988353 |
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 GMDS-VAPB |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:1930337/chr20:57019133) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GMDS | . |
FUNCTION: Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose. {ECO:0000269|PubMed:9525924}. | 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}. |
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 | GMDS | chr6:1960101 | chr20:57019133 | ENST00000380815 | - | 6 | 11 | 108_112 | 214 | 373.0 | Nucleotide binding | NADP |
Hgene | GMDS | chr6:1960101 | chr20:57019133 | ENST00000380815 | - | 6 | 11 | 30_35 | 214 | 373.0 | Nucleotide binding | NADP |
Hgene | GMDS | chr6:1960101 | chr20:57019133 | ENST00000380815 | - | 6 | 11 | 55_58 | 214 | 373.0 | Nucleotide binding | NADP |
Hgene | GMDS | chr6:1960101 | chr20:57019133 | ENST00000380815 | - | 6 | 11 | 86_87 | 214 | 373.0 | Nucleotide binding | NADP |
Hgene | GMDS | chr6:1960101 | chr20:57019133 | ENST00000530927 | - | 6 | 11 | 108_112 | 184 | 343.0 | Nucleotide binding | NADP |
Hgene | GMDS | chr6:1960101 | chr20:57019133 | ENST00000530927 | - | 6 | 11 | 30_35 | 184 | 343.0 | Nucleotide binding | NADP |
Hgene | GMDS | chr6:1960101 | chr20:57019133 | ENST00000530927 | - | 6 | 11 | 55_58 | 184 | 343.0 | Nucleotide binding | NADP |
Hgene | GMDS | chr6:1960101 | chr20:57019133 | ENST00000530927 | - | 6 | 11 | 86_87 | 184 | 343.0 | Nucleotide binding | NADP |
Tgene | VAPB | chr6:1960101 | chr20:57019133 | ENST00000395802 | 1 | 3 | 159_196 | 70 | 100.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | VAPB | chr6:1960101 | chr20:57019133 | ENST00000395802 | 1 | 3 | 223_243 | 70 | 100.0 | Transmembrane | Helical%3B Anchor for type IV membrane protein | |
Tgene | VAPB | chr6:1960101 | chr20:57019133 | ENST00000475243 | 4 | 6 | 223_243 | 191 | 244.0 | Transmembrane | Helical%3B Anchor for type IV membrane protein |
- 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 | VAPB | chr6:1960101 | chr20:57019133 | ENST00000475243 | 4 | 6 | 159_196 | 191 | 244.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | VAPB | chr6:1960101 | chr20:57019133 | ENST00000395802 | 1 | 3 | 7_124 | 70 | 100.0 | Domain | MSP | |
Tgene | VAPB | chr6:1960101 | chr20:57019133 | ENST00000475243 | 4 | 6 | 7_124 | 191 | 244.0 | Domain | MSP | |
Tgene | VAPB | chr6:1960101 | chr20:57019133 | ENST00000395802 | 1 | 3 | 2_222 | 70 | 100.0 | Topological domain | Cytoplasmic | |
Tgene | VAPB | chr6:1960101 | chr20:57019133 | ENST00000475243 | 4 | 6 | 2_222 | 191 | 244.0 | Topological domain | Cytoplasmic |
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Fusion Gene Sequence for GMDS-VAPB |
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. |
>33475_33475_1_GMDS-VAPB_GMDS_chr6_1960101_ENST00000380815_VAPB_chr20_57019133_ENST00000475243_length(transcript)=7938nt_BP=913nt GACGCGAATGACGCTGCGCCAGTCAGGCCGCAGCCCCGCTGCTTGGCCCGTCGGGCCCGCCTTGGCCGGCTCGGCCCGCCCCCGGCCCTC CCTGCACGGCCTCCCGTGCGCCCCTGTCAGACTGTGGCGGCCGGTCGCGCGGTGCGCTCTCCCTCCCTGCCCGCAGCCTGGAGAGGCGCT TCGTGCTGCACACCCCCGCGTTCCTGCCGGCACCGCGCCTGCCCTCTGCCGCGCTCCGCCCTGCCGCCGACCGCACGCCCGCCGCGGGAC ATGGCACACGCACCGGCACGCTGCCCCAGCGCCCGGGGCTCCGGGGACGGCGAGATGGGCAAGCCCAGGAACGTGGCGCTCATCACCGGT ATCACAGGCCAGGATGGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAGGTCCATGGAATTGTACGGCGGTCCAGTTCATTT AATACGGGTCGAATTGAGCATCTGTATAAGAATCCCCAGGCTCACATTGAAGGAAACATGAAGTTGCACTATGGCGATCTCACTGACAGT ACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAGATCTACAACCTTGGAGCCCAGAGCCACGTCAAAATTTCCTTTGACCTC GCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTC TACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGG GCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAG AGTCCCAGAAGAGGAAGAAGATGGACTGCGGATGAGGAAGACAGTGCAGAGCAACAGCCCCATTTCAGCATTAGCCCCAACTGGGAAGGA AGAAGGCCTTAGCACCCGGCTCTTGGCTCTGGTGGTTTTGTTCTTTATCGTTGGTGTAATTATTGGGAAGATTGCCTTGTAGAGGTAGCA TGCACAGGATGGTAAATTGGATTGGTGGATCCACCATATCATGGGATTTAAATTTATCATAACCATGTGTAAAAAGAAATTAATGTATGA TGACATCTCACAGGTCTTGCCTTTAAATTACCCCTCCCTGCACACACATACACAGATACACACACACAAATATAATGTAACGATCTTTTA GAAAGTTAAAAATGTATAGTAACTGATTGAGGGGGAAAAGAATGATCTTTATTAATGACAAGGGAAACCATGAGTAATGCCACAATGGCA TATTGTAAATGTCATTTTAAACATTGGTAGGCCTTGGTACATGATGCTGGATTACCTCTCTTAAAATGACACCCTTCCTCGCCTGTTGGT GCTGGCCCTTGGGGAGCTGGAGCCCAGCATGCTGGGGAGTGCGGTCAGCTCCACACAGTAGTCCCCACGTGGCCCACTCCCGGCCCAGGC TGCTTTCCGTGTCTTCAGTTCTGTCCAAGCCATCAGCTCCTTGGGACTGATGAACAGAGTCAGAAGCCCAAAGGAATTGCACTGTGGCAG CATCAGACGTACTCGTCATAAGTGAGAGGCGTGTGTTGACTGATTGACCCAGCGCTTTGGAAATAAATGGCAGTGCTTTGTTCACTTAAA GGGACCAAGCTAAATTTGTATTGGTTCATGTAGTGAAGTCAAACTGTTATTCAGAGATGTTTAATGCATATTTAACTTATTTAATGTATT TCATCTCATGTTTTCTTATTGTCACAAGAGTACAGTTAATGCTGCGTGCTGCTGAACTCTGTTGGGTGAACTGGTATTGCTGCTGGAGGG CTGTGGGCTCCTCTGTCTCTGGAGAGTCTGGTCATGTGGAGGTGGGGTTTATTGGGATGCTGGAGAAGAGCTGCCAGGAAGTGTTTTTTC TGGGTCAGTAAATAACAACTGTCATAGGGAGGGAAATTCTCAGTAGTGACAGTCAACTCTAGGTTACCTTTTTTAATGAAGAGTAGTCAG TCTTCTAGATTGTTCTTATACCACCTCTCAACCATTACTCACACTTCCAGCGCCCAGGTCCAAGTCTGAGCCTGACCTCCCCTTGGGGAC CTAGCCTGGAGTCAGGACAAATGGATCGGGCTGCAGAGGGTTAGAAGCGAGGGCACCAGCAGTTGTGGGTGGGGAGCAAGGGAAGAGAGA AACTCTTCAGCGAATCCTTCTAGTACTAGTTGAGAGTTTGACTGTGAATTAATTTTATGCCATAAAAGACCAACCCAGTTCTGTTTGACT ATGTAGCATCTTGAAAAGAAAAATTATAATAAAGCCCCAAAATTAAGAATTCTTTTGTCATTTTGTCACATTTGCTCTATGGGGGGAATT ATTATTTTATCATTTTTATTATTTTGCCATTGGAAGGTTAACTTTAAAATGAGCCCTATCACTGAGAAATACGTGTTTCATGATTTAACT CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTGGTTGTCTTCAGCTGACAGTATGAAAAATGAAACTGCTGAA AAAGCTGAGCACCTGGTCACCCTTGGCCTTCCATTGCTTTGGCCTTCAGTAAAAAGCAGCCTCCCTTCTAGGTCAGGGAACCATGCCATT GAGACTAGTAACGGGCGTTCTGGGCACAGTCCCACTGTGCACAGGTTTGAGAGGACAAGTTCATCAGAAGGAAGGCAGTCCTTAGAAGTC ACATACGTTGAGCCACGTTGCTCCTAAGCCTGGCTCTGTCAAGCTGGGTCAGGGGCCTTGAAACTGGAGAAGTGGAAGTCTATGGTTGGT CTGAGTAAGTAACTTCCTGTCTTCATGAAAAAAGTTGACTTTGAATCCCAGGTACTCACAGAAATGGTGAACAGACTTAGTTGTTACCCA GGCACCCATGGATTGTGTTGAGTGTGCAGACAGGGAGGCCACCCCAATAGGAATTCGTCTCCAGGATTTTTCCCATGTGTCCCCCAGTAC TTATAAAAGGGAGTGAAAAGACCGAGCTGTAAGGCATGTGCCTTCTGCCACCTGACTTTCCGTGAGGGGACTAAAATTTACTAATTGTAG TTGCTGCAGCCAGTTAAGTCCTGTAGCTTCCAGGCCCTCATGTCTTTGATAGGAGAGTGCTTAGGTGGTCCCCAACAGTGCCTAGGGGTA CAGTACAGTCCCATTACACTAGAGCAGGGCTCTATTTATTTTTAAAGGATATGGCCGTGTGTTTTGATAAAACTTTATTCACAAAAACAG CCGGGTCATGGGATTTGGCTTGTGAGTCTGTAACAGTTCTTAAAAAGAATATCTGAGAAACTACTCTGTTTTAGACCTTTGAAGGTGATT TAGAGTTTTGTGTACATCTAGGAGAAGGTGTTCAGCTTCTCAGAGGATGTGGACATTTTGGTTGCAGCTAAAAATCAGTCTCTGAAGTCT CTCTCCCTTCTAGAGGTTAGGACTTGGTGAACATGTTTGTGGGCCTTTTGACTGAGTGGCAGAAGGAAACTGCTCAGGAAGAGAAACAGG TGACTGATGGGAAGGTTGATTATTTTCTCAGTCATCCTGGCAGCCAAAAATGTGCCAGGAAAAGAAAGAATGTGGAGCACGCGTGGCTCC TGGAGGACTTGGAGATGCATGCACATTTAGGGTGTTTTCCCTAGAATTACATAATGAAAAAAAGAATAAGGCAAAGAGGAGGTGAATATG GGGCCTGTCACAACGGCCTGCCCTGCCCCAAGAGGGTTAAGAGTCAGATAATCGGGACGAAACTGGCATGGAAAGAGCGAGCCTAGGGAG GATGCCGCTGGGCAGTGTGCATGGGGGAGCTGCTGCCAGGCTGCCCTCCAGTCTGCTCCTGTGGTTACTGGCTCCACAGCACCTCAGAGA GGGCGGCCCTGGCTTCAGAAATGCCAGCCATAGTGCTCACAAATGCAGAAGAGATGGAAGCGGTGACAGAATCCTGAAAGTTTTTATTGA TTGAAGTTTTAAATTGGTAACTTAAGCTTCCTTGGCACGATACAAAATACCTCTTAAAGACAGCAGGCTTTTTTATTTGTAGGTGTGAGG AACTGGCTTTAACTTTTTTCTCCTCCTAGTTTGCATGTTTTCCTTCTCTCGTCTTCTGAACTGCTGGCACCAGCAGTAATACATACTGAT AAAATCAAAATTGATTTTTACCAGTGGCCAGTTTATGGCTAGAGAGACGACTTATACCTCCATAACACAGAAGGGGGAAAAATGAAGAAC CTCCAGTGATCCGTGAAAACCTAAACGCTTTCAAACAAATCCCAGGAACAGAATTGCTATCGAAAGATATCATTGCCCAGTTTGCAGGCT ATGTTGAGTCAGATAGAACTGAATGTAGTGAGAGCTCAGAGCTACAGAGCCTTTCAGATGAATTTGAAAACAGACTCTGTGTGTGTGTGC ATGTGTGCATGTGTGCATGTGTGGCATATGTGCCGTATGTCAGTAGCTTGACAGTTTTCAAATCGTGCCTATATTTTTTTGCATACACAA ATTTTTGTGTTTGCAAACTCAGAATCCATGCCAAAATACAATGTTATATGTCATTTTCAGCTCCTTCTCTAAAGGAATGGCCCATTTCTC ATTGTAGTTTGAGAAATACATGTATGAAGAGATAGGGGTCTTGGGCTTCCCAGTGTCACTTTGAACACCTGAATAACATTTAACTCCTGA GACCTTCTCGGTGTAGAGGCCACTGCTTCCCCCTGCTGGAGATGGCATTTCATTGAAGGGCCTCTCGTGGCTTTCCCTGCCCCCGGCTGT CTGGCCTGAAGAAGGAGAAAGAACCAAACTGAACTATGAAAAGTTACCACTCTGAGGAGACCTCTCTTAATTAACACTTGGGGCCATGTT TGCTGTTGTTGAGAAGGAGTGTTCTCAAAGATGAGCTGGAATGGAATTGTATTTAGAAAGGCCCCTGCAAAGTATATAGATGGATGACTC TAGTTCATGACATACAAATCCCATAAGGCCAACGACCACTCTTCTGGAACACCAAGAGCAGCTCTGAGATCATGCTGGCCCTACGCGAAT TGAGTTTCTGTGGCCTAATTGGATTTGGAGAACGCCTTCCCTGGCCCCTTTTCCTCAGACAGATCTGCTCTGATAGGAACCTTTTCAAGA AAGTTACTGTTGTTTCAATGCCACTCCTTACCTGTATAGAACATTTCCAATACATTCGCTCATTGAACTTAATCCTTGCAACTGTGACTG GGGGGTAGATGGCTCTGTTTGCATACGAAGAAATAAAGGCTCCAGGAGGTTAAATCGGGCAACTTTTTAGAACTAAATCAGTCTCTGTAA GGCCTACATTGCTAAGATACCATTTCAGCTCTGAAAATCTGCTTCAGGGAAGTGAGTGGATGAGGCCTTCCTGCCTCAGCTACTCTGCCC GTCTGTACATCTTTTGTGTCTGCCTCCGTACCTTATTCAGTTATTTTCACACTAAAGTAAGTAGAATTAAGACTGTAGTTCAGATGCTTT TTCTTTTTCTGTTGGAAACTGAACACACTACAGACAGTGAAAAAAGGTACATATTCCATTTTCTCATTGCCTGAAGATCTCTGCTGATGC TCCTGGAGAATGACTTTGGGGGCTTTAGAAAGAATATTGCCAGTCCGTCTCGGCAAGGAGATGATGGGAGCGCTTTATATGGAGGCTTTA CATGACTTGTAAATTAAATGTGAATGAGGGCAGTTGATTAAAATTGGTATTACAGAAGGGCCCTGCTGAGGTTTGAAAACAGCTGAGCTG CTGATGTCTCAGGCCTTTCCCTGAATTAGCACTGCGGTTCTCCAGGATATCAGCAAAGAGGGCAAGTAATAGAAGCCCCTGATAAGGAGC GTCAGCCGACAGGCAAGCTTGGGAGGCTGTGGGAATGGGTCTGCCCCCAGCTTCACAGACCTCTTCCTCCAGCCTCTGAATCCCATTAGC CACAGCCTAGAACATTAGCTGAGCTGCACAAGCTCACCCACCCCTGTGCCAGGGGGCCCTGACCTCCCTCCATGCCATGTTTTTGGCTGT ATCTACGGCACTTAACAATAGGGGCTTTTTATTTTCATTACAGAGATATTTTGAAAAATTTAAAAGACATGAACTCACATAAACAGTTAT GGATGATAGTTAAAAGAGAAACGGGTGGAGGTGGATGAGAGGTTGTCTTCATGAATATAATTACTTGAGATTTTTTTTTCTTAATGGAAT TAGTTTATTAGAAAATGTCTGTGTTAAATCCGTAGAAAAGGAAGAAAAGTGTAGCAACAAAAATGTAGCCATTATCTAACTTGCCATAAA TATTTGCAGTTATGATACCTTGGAATGTTGCCACGATATGGATTGCTTTGATTAAAAGATGTCAGTTGAATAAAACAGTACTGTGGGAGA ATCGCTTTCTGCTGCTAGATAAATGCTGATGTTTATTTTTAAACCAGGAAACATTGATCCTGTAACAATGCCCGATTACAATTGCTTTAT TACACCCCAGGGCTGATGGAGATGTAATCACTTGGCTAATGGATGTGGGTGCAGGACAGATGCTCGCTTGCTGGCCTGCTTTCCTGCTTG CATTCTGATGAGCTGCAGGAGTGCGCCTGGCCTTCTGCAGGTGGAGCTGCTGTCAGAGCTTCGTTTCACTGATACCCAAAGCCATGTCTG ACTGAAATAAAACAGGTTCCCTTTTTTTTTCCCTTTGGAAAATGCCAACTAAGGGAGACTAATCAGATATCTTAACACAATTTCATCCAG GCTTAGTGCTAACAAGATTGCGGGGCTTTTTAGGGTTTAAGAAGATGAGAAATGAGTGTGCACGTTTCACACGTTGACTTGCCGGTTTTT CCATGTCATACAAAAAAGTCCTGGCTGTTTCTCCGAACTGGCTGCCTGCATTCCCGTCTTTCTTTTGTTTTTAAGAAATAGACTGAATTC AGCTGTTAATCCTCTAGTACAGTATCCATGTTAAAATGTTTTTCCATTGCATCTTTTATGTGAATTCAAAGGTCAGAATTTATTGTCTGT GATATTGAGACCATGTGTACAAGAACTACTTTTTGCTTTTCATCATTCACTCCTTAGCAAACGTTTCGTAAGTACCCTCTGTCTGTTTGC TACTATATGAGGTGCTGCGAAATTAGTGGGCGTGGCTTTTTATATTTTTCATTCGTGTGTAGCCTAAGTAAGGTGACTCAAGATGATACA CCGAGAGAAAAATGCAAAATATATTTGGTTCTCATTTCTGTTGCTGTCGTTTCCTTTTTAAAGACGATTTATCAACTGCTGCCATTTGGA ACTTCCTATAAGAAACTAAAAATGATCTATTTCAGTGTTCCTTTCGCCTTTCCTCTGCTTTCTGAATAAATGGTTTCAGTAACCCATGCT GTTCTCTCCCTATTCTACGTCTTTCTCCCTATGTTGAAAAAAGATTCCCACAGTTTCTGATGTGTGTGTTTATAGTCTTCAATGTATGTT AACATGTTAGGAACTGAGTATCTTAAGAGATGTCTTAGAATGCTTTAGTTTTCATAATTTGTCCTTTATGTATTTTTCATTGTATTTGCT GTTTTGACATGGAAGTAATTTAAAAAGTTGGTGCAGGAAAGGACTCTTTACTGTTGCACATTTTGGTTTTCTGATATGTAATAAATTCAT GGCTTGGCAGCTGACATGATGTTTCCCAGAGAGAAGGAGATGTATTTCTGCAGGGTCCAGACCAAAAGAGCCATTTACAGCATGTTCTCC CATGTTCCATTATCAGCCTGATGAAACCTGCCCTGCCAAGGCATAAACTTTTGTACTAGCTGTCTCCATATTATGTTCAATAAATTCTGT >33475_33475_1_GMDS-VAPB_GMDS_chr6_1960101_ENST00000380815_VAPB_chr20_57019133_ENST00000475243_length(amino acids)=319AA_BP=290 MARRARLGRLGPPPALPARPPVRPCQTVAAGRAVRSPSLPAAWRGASCCTPPRSCRHRACPLPRSALPPTARPPRDMAHAPARCPSARGS GDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTE IYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFR -------------------------------------------------------------- >33475_33475_2_GMDS-VAPB_GMDS_chr6_1960101_ENST00000530927_VAPB_chr20_57019133_ENST00000475243_length(transcript)=7626nt_BP=601nt TGTACACAGGCAGTTTGTTGGGAGCGTTACCATTGCCTCTGGTTCCTCATGTGTAAAATGGATGGTTCCTACCTGGCTGAGTTCCTGCTG GAGAAAGGCTATGAGGTCCATGGAATTGTACGGCGGTCCAGTTCATTTAATACGGGTCGAATTGAGCATCTGTATAAGAATCCCCAGGCT CACATTGAAGGAAACATGAAGTTGCACTATGGCGATCTCACTGACAGTACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAG ATCTACAACCTTGGAGCCCAGAGCCACGTCAAAATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGA CTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAA ATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGT GAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAGAGTCCCAGAAGAGGAAGAAGATGGACTGCGGATGAGGAAGAC AGTGCAGAGCAACAGCCCCATTTCAGCATTAGCCCCAACTGGGAAGGAAGAAGGCCTTAGCACCCGGCTCTTGGCTCTGGTGGTTTTGTT CTTTATCGTTGGTGTAATTATTGGGAAGATTGCCTTGTAGAGGTAGCATGCACAGGATGGTAAATTGGATTGGTGGATCCACCATATCAT GGGATTTAAATTTATCATAACCATGTGTAAAAAGAAATTAATGTATGATGACATCTCACAGGTCTTGCCTTTAAATTACCCCTCCCTGCA CACACATACACAGATACACACACACAAATATAATGTAACGATCTTTTAGAAAGTTAAAAATGTATAGTAACTGATTGAGGGGGAAAAGAA TGATCTTTATTAATGACAAGGGAAACCATGAGTAATGCCACAATGGCATATTGTAAATGTCATTTTAAACATTGGTAGGCCTTGGTACAT GATGCTGGATTACCTCTCTTAAAATGACACCCTTCCTCGCCTGTTGGTGCTGGCCCTTGGGGAGCTGGAGCCCAGCATGCTGGGGAGTGC GGTCAGCTCCACACAGTAGTCCCCACGTGGCCCACTCCCGGCCCAGGCTGCTTTCCGTGTCTTCAGTTCTGTCCAAGCCATCAGCTCCTT GGGACTGATGAACAGAGTCAGAAGCCCAAAGGAATTGCACTGTGGCAGCATCAGACGTACTCGTCATAAGTGAGAGGCGTGTGTTGACTG ATTGACCCAGCGCTTTGGAAATAAATGGCAGTGCTTTGTTCACTTAAAGGGACCAAGCTAAATTTGTATTGGTTCATGTAGTGAAGTCAA ACTGTTATTCAGAGATGTTTAATGCATATTTAACTTATTTAATGTATTTCATCTCATGTTTTCTTATTGTCACAAGAGTACAGTTAATGC TGCGTGCTGCTGAACTCTGTTGGGTGAACTGGTATTGCTGCTGGAGGGCTGTGGGCTCCTCTGTCTCTGGAGAGTCTGGTCATGTGGAGG TGGGGTTTATTGGGATGCTGGAGAAGAGCTGCCAGGAAGTGTTTTTTCTGGGTCAGTAAATAACAACTGTCATAGGGAGGGAAATTCTCA GTAGTGACAGTCAACTCTAGGTTACCTTTTTTAATGAAGAGTAGTCAGTCTTCTAGATTGTTCTTATACCACCTCTCAACCATTACTCAC ACTTCCAGCGCCCAGGTCCAAGTCTGAGCCTGACCTCCCCTTGGGGACCTAGCCTGGAGTCAGGACAAATGGATCGGGCTGCAGAGGGTT AGAAGCGAGGGCACCAGCAGTTGTGGGTGGGGAGCAAGGGAAGAGAGAAACTCTTCAGCGAATCCTTCTAGTACTAGTTGAGAGTTTGAC TGTGAATTAATTTTATGCCATAAAAGACCAACCCAGTTCTGTTTGACTATGTAGCATCTTGAAAAGAAAAATTATAATAAAGCCCCAAAA TTAAGAATTCTTTTGTCATTTTGTCACATTTGCTCTATGGGGGGAATTATTATTTTATCATTTTTATTATTTTGCCATTGGAAGGTTAAC TTTAAAATGAGCCCTATCACTGAGAAATACGTGTTTCATGATTTAACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTT TTTTTTTGGTTGTCTTCAGCTGACAGTATGAAAAATGAAACTGCTGAAAAAGCTGAGCACCTGGTCACCCTTGGCCTTCCATTGCTTTGG CCTTCAGTAAAAAGCAGCCTCCCTTCTAGGTCAGGGAACCATGCCATTGAGACTAGTAACGGGCGTTCTGGGCACAGTCCCACTGTGCAC AGGTTTGAGAGGACAAGTTCATCAGAAGGAAGGCAGTCCTTAGAAGTCACATACGTTGAGCCACGTTGCTCCTAAGCCTGGCTCTGTCAA GCTGGGTCAGGGGCCTTGAAACTGGAGAAGTGGAAGTCTATGGTTGGTCTGAGTAAGTAACTTCCTGTCTTCATGAAAAAAGTTGACTTT GAATCCCAGGTACTCACAGAAATGGTGAACAGACTTAGTTGTTACCCAGGCACCCATGGATTGTGTTGAGTGTGCAGACAGGGAGGCCAC CCCAATAGGAATTCGTCTCCAGGATTTTTCCCATGTGTCCCCCAGTACTTATAAAAGGGAGTGAAAAGACCGAGCTGTAAGGCATGTGCC TTCTGCCACCTGACTTTCCGTGAGGGGACTAAAATTTACTAATTGTAGTTGCTGCAGCCAGTTAAGTCCTGTAGCTTCCAGGCCCTCATG TCTTTGATAGGAGAGTGCTTAGGTGGTCCCCAACAGTGCCTAGGGGTACAGTACAGTCCCATTACACTAGAGCAGGGCTCTATTTATTTT TAAAGGATATGGCCGTGTGTTTTGATAAAACTTTATTCACAAAAACAGCCGGGTCATGGGATTTGGCTTGTGAGTCTGTAACAGTTCTTA AAAAGAATATCTGAGAAACTACTCTGTTTTAGACCTTTGAAGGTGATTTAGAGTTTTGTGTACATCTAGGAGAAGGTGTTCAGCTTCTCA GAGGATGTGGACATTTTGGTTGCAGCTAAAAATCAGTCTCTGAAGTCTCTCTCCCTTCTAGAGGTTAGGACTTGGTGAACATGTTTGTGG GCCTTTTGACTGAGTGGCAGAAGGAAACTGCTCAGGAAGAGAAACAGGTGACTGATGGGAAGGTTGATTATTTTCTCAGTCATCCTGGCA GCCAAAAATGTGCCAGGAAAAGAAAGAATGTGGAGCACGCGTGGCTCCTGGAGGACTTGGAGATGCATGCACATTTAGGGTGTTTTCCCT AGAATTACATAATGAAAAAAAGAATAAGGCAAAGAGGAGGTGAATATGGGGCCTGTCACAACGGCCTGCCCTGCCCCAAGAGGGTTAAGA GTCAGATAATCGGGACGAAACTGGCATGGAAAGAGCGAGCCTAGGGAGGATGCCGCTGGGCAGTGTGCATGGGGGAGCTGCTGCCAGGCT GCCCTCCAGTCTGCTCCTGTGGTTACTGGCTCCACAGCACCTCAGAGAGGGCGGCCCTGGCTTCAGAAATGCCAGCCATAGTGCTCACAA ATGCAGAAGAGATGGAAGCGGTGACAGAATCCTGAAAGTTTTTATTGATTGAAGTTTTAAATTGGTAACTTAAGCTTCCTTGGCACGATA CAAAATACCTCTTAAAGACAGCAGGCTTTTTTATTTGTAGGTGTGAGGAACTGGCTTTAACTTTTTTCTCCTCCTAGTTTGCATGTTTTC CTTCTCTCGTCTTCTGAACTGCTGGCACCAGCAGTAATACATACTGATAAAATCAAAATTGATTTTTACCAGTGGCCAGTTTATGGCTAG AGAGACGACTTATACCTCCATAACACAGAAGGGGGAAAAATGAAGAACCTCCAGTGATCCGTGAAAACCTAAACGCTTTCAAACAAATCC CAGGAACAGAATTGCTATCGAAAGATATCATTGCCCAGTTTGCAGGCTATGTTGAGTCAGATAGAACTGAATGTAGTGAGAGCTCAGAGC TACAGAGCCTTTCAGATGAATTTGAAAACAGACTCTGTGTGTGTGTGCATGTGTGCATGTGTGCATGTGTGGCATATGTGCCGTATGTCA GTAGCTTGACAGTTTTCAAATCGTGCCTATATTTTTTTGCATACACAAATTTTTGTGTTTGCAAACTCAGAATCCATGCCAAAATACAAT GTTATATGTCATTTTCAGCTCCTTCTCTAAAGGAATGGCCCATTTCTCATTGTAGTTTGAGAAATACATGTATGAAGAGATAGGGGTCTT GGGCTTCCCAGTGTCACTTTGAACACCTGAATAACATTTAACTCCTGAGACCTTCTCGGTGTAGAGGCCACTGCTTCCCCCTGCTGGAGA TGGCATTTCATTGAAGGGCCTCTCGTGGCTTTCCCTGCCCCCGGCTGTCTGGCCTGAAGAAGGAGAAAGAACCAAACTGAACTATGAAAA GTTACCACTCTGAGGAGACCTCTCTTAATTAACACTTGGGGCCATGTTTGCTGTTGTTGAGAAGGAGTGTTCTCAAAGATGAGCTGGAAT GGAATTGTATTTAGAAAGGCCCCTGCAAAGTATATAGATGGATGACTCTAGTTCATGACATACAAATCCCATAAGGCCAACGACCACTCT TCTGGAACACCAAGAGCAGCTCTGAGATCATGCTGGCCCTACGCGAATTGAGTTTCTGTGGCCTAATTGGATTTGGAGAACGCCTTCCCT GGCCCCTTTTCCTCAGACAGATCTGCTCTGATAGGAACCTTTTCAAGAAAGTTACTGTTGTTTCAATGCCACTCCTTACCTGTATAGAAC ATTTCCAATACATTCGCTCATTGAACTTAATCCTTGCAACTGTGACTGGGGGGTAGATGGCTCTGTTTGCATACGAAGAAATAAAGGCTC CAGGAGGTTAAATCGGGCAACTTTTTAGAACTAAATCAGTCTCTGTAAGGCCTACATTGCTAAGATACCATTTCAGCTCTGAAAATCTGC TTCAGGGAAGTGAGTGGATGAGGCCTTCCTGCCTCAGCTACTCTGCCCGTCTGTACATCTTTTGTGTCTGCCTCCGTACCTTATTCAGTT ATTTTCACACTAAAGTAAGTAGAATTAAGACTGTAGTTCAGATGCTTTTTCTTTTTCTGTTGGAAACTGAACACACTACAGACAGTGAAA AAAGGTACATATTCCATTTTCTCATTGCCTGAAGATCTCTGCTGATGCTCCTGGAGAATGACTTTGGGGGCTTTAGAAAGAATATTGCCA GTCCGTCTCGGCAAGGAGATGATGGGAGCGCTTTATATGGAGGCTTTACATGACTTGTAAATTAAATGTGAATGAGGGCAGTTGATTAAA ATTGGTATTACAGAAGGGCCCTGCTGAGGTTTGAAAACAGCTGAGCTGCTGATGTCTCAGGCCTTTCCCTGAATTAGCACTGCGGTTCTC CAGGATATCAGCAAAGAGGGCAAGTAATAGAAGCCCCTGATAAGGAGCGTCAGCCGACAGGCAAGCTTGGGAGGCTGTGGGAATGGGTCT GCCCCCAGCTTCACAGACCTCTTCCTCCAGCCTCTGAATCCCATTAGCCACAGCCTAGAACATTAGCTGAGCTGCACAAGCTCACCCACC CCTGTGCCAGGGGGCCCTGACCTCCCTCCATGCCATGTTTTTGGCTGTATCTACGGCACTTAACAATAGGGGCTTTTTATTTTCATTACA GAGATATTTTGAAAAATTTAAAAGACATGAACTCACATAAACAGTTATGGATGATAGTTAAAAGAGAAACGGGTGGAGGTGGATGAGAGG TTGTCTTCATGAATATAATTACTTGAGATTTTTTTTTCTTAATGGAATTAGTTTATTAGAAAATGTCTGTGTTAAATCCGTAGAAAAGGA AGAAAAGTGTAGCAACAAAAATGTAGCCATTATCTAACTTGCCATAAATATTTGCAGTTATGATACCTTGGAATGTTGCCACGATATGGA TTGCTTTGATTAAAAGATGTCAGTTGAATAAAACAGTACTGTGGGAGAATCGCTTTCTGCTGCTAGATAAATGCTGATGTTTATTTTTAA ACCAGGAAACATTGATCCTGTAACAATGCCCGATTACAATTGCTTTATTACACCCCAGGGCTGATGGAGATGTAATCACTTGGCTAATGG ATGTGGGTGCAGGACAGATGCTCGCTTGCTGGCCTGCTTTCCTGCTTGCATTCTGATGAGCTGCAGGAGTGCGCCTGGCCTTCTGCAGGT GGAGCTGCTGTCAGAGCTTCGTTTCACTGATACCCAAAGCCATGTCTGACTGAAATAAAACAGGTTCCCTTTTTTTTTCCCTTTGGAAAA TGCCAACTAAGGGAGACTAATCAGATATCTTAACACAATTTCATCCAGGCTTAGTGCTAACAAGATTGCGGGGCTTTTTAGGGTTTAAGA AGATGAGAAATGAGTGTGCACGTTTCACACGTTGACTTGCCGGTTTTTCCATGTCATACAAAAAAGTCCTGGCTGTTTCTCCGAACTGGC TGCCTGCATTCCCGTCTTTCTTTTGTTTTTAAGAAATAGACTGAATTCAGCTGTTAATCCTCTAGTACAGTATCCATGTTAAAATGTTTT TCCATTGCATCTTTTATGTGAATTCAAAGGTCAGAATTTATTGTCTGTGATATTGAGACCATGTGTACAAGAACTACTTTTTGCTTTTCA TCATTCACTCCTTAGCAAACGTTTCGTAAGTACCCTCTGTCTGTTTGCTACTATATGAGGTGCTGCGAAATTAGTGGGCGTGGCTTTTTA TATTTTTCATTCGTGTGTAGCCTAAGTAAGGTGACTCAAGATGATACACCGAGAGAAAAATGCAAAATATATTTGGTTCTCATTTCTGTT GCTGTCGTTTCCTTTTTAAAGACGATTTATCAACTGCTGCCATTTGGAACTTCCTATAAGAAACTAAAAATGATCTATTTCAGTGTTCCT TTCGCCTTTCCTCTGCTTTCTGAATAAATGGTTTCAGTAACCCATGCTGTTCTCTCCCTATTCTACGTCTTTCTCCCTATGTTGAAAAAA GATTCCCACAGTTTCTGATGTGTGTGTTTATAGTCTTCAATGTATGTTAACATGTTAGGAACTGAGTATCTTAAGAGATGTCTTAGAATG CTTTAGTTTTCATAATTTGTCCTTTATGTATTTTTCATTGTATTTGCTGTTTTGACATGGAAGTAATTTAAAAAGTTGGTGCAGGAAAGG ACTCTTTACTGTTGCACATTTTGGTTTTCTGATATGTAATAAATTCATGGCTTGGCAGCTGACATGATGTTTCCCAGAGAGAAGGAGATG TATTTCTGCAGGGTCCAGACCAAAAGAGCCATTTACAGCATGTTCTCCCATGTTCCATTATCAGCCTGATGAAACCTGCCCTGCCAAGGC >33475_33475_2_GMDS-VAPB_GMDS_chr6_1960101_ENST00000530927_VAPB_chr20_57019133_ENST00000475243_length(amino acids)=213AA_BP=184 MCKMDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDL AEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHE -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for GMDS-VAPB |
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 GMDS-VAPB |
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 GMDS-VAPB |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C1837728 | AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1854058 | SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE | 2 | GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1866777 | Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant | 2 | CTD_human;ORPHANET | |
Tgene | C0002736 | Amyotrophic Lateral Sclerosis | 1 | ORPHANET |