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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:ATXN2-BRAP (FusionGDB2 ID:HG6311TG8315) |
Fusion Gene Summary for ATXN2-BRAP |
Fusion gene summary |
Fusion gene information | Fusion gene name: ATXN2-BRAP | Fusion gene ID: hg6311tg8315 | Hgene | Tgene | Gene symbol | ATXN2 | BRAP | Gene ID | 6311 | 8315 |
Gene name | ataxin 2 | BRCA1 associated protein | |
Synonyms | ATX2|SCA2|TNRC13 | BRAP2|IMP|RNF52 | |
Cytomap | ('ATXN2')('BRAP') 12q24.12 | 12q24.12 | |
Type of gene | protein-coding | protein-coding | |
Description | ataxin-2spinocerebellar ataxia type 2 proteintrinucleotide repeat-containing gene 13 protein | BRCA1-associated proteinRING finger protein 52RING-type E3 ubiquitin transferase BRAP2galectin-2-binding proteinimpedes mitogenic signal propagationrenal carcinoma antigen NY-REN-63 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000542287, ENST00000550104, ENST00000377617, ENST00000389153, ENST00000535949, ENST00000608853, ENST00000549455, | ENST00000535949, ENST00000542287, ENST00000550104, ENST00000549455, ENST00000377617, ENST00000389153, ENST00000608853, | |
Fusion gene scores | * DoF score | 22 X 21 X 8=3696 | 3 X 3 X 3=27 |
# samples | 25 | 3 | |
** MAII score | log2(25/3696*10)=-3.88596475675397 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ATXN2 [Title/Abstract] AND BRAP [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ATXN2(111947353)-BRAP(112087846), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | ATXN2-BRAP 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. ATXN2-BRAP 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. ATXN2-BRAP 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. ATXN2-BRAP 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. BRAP-ATXN2 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. BRAP-ATXN2 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. ATXN2-BRAP seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. BRAP-ATXN2 seems lost the major protein functional domain in Hgene partner, which is a essential 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 |
Tgene | BRAP | GO:0000165 | MAPK cascade | 14724641 |
Tgene | BRAP | GO:0007265 | Ras protein signal transduction | 14724641 |
Tgene | BRAP | GO:0009968 | negative regulation of signal transduction | 14724641 |
Tgene | BRAP | GO:0016567 | protein ubiquitination | 14724641 |
Fusion gene breakpoints across ATXN2 (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 BRAP (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 * 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 | BLCA | TCGA-G2-AA3D-01A | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
ChimerDB4 | BLCA | TCGA-G2-AA3D | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
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Fusion Gene ORF analysis for ATXN2-BRAP |
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 |
Frame-shift | ENST00000542287 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
Frame-shift | ENST00000542287 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
Frame-shift | ENST00000542287 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
Frame-shift | ENST00000550104 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
Frame-shift | ENST00000550104 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
Frame-shift | ENST00000550104 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000377617 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000377617 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000377617 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000389153 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000389153 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000389153 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000535949 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000535949 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000535949 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000608853 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000608853 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
In-frame | ENST00000608853 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
intron-3CDS | ENST00000549455 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
intron-3CDS | ENST00000549455 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
intron-3CDS | ENST00000549455 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - |
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) |
ENST00000389153 | ATXN2 | chr12 | 111947353 | - | ENST00000419234 | BRAP | chr12 | 112087846 | - | 4244 | 1723 | 31 | 2190 | 719 |
ENST00000389153 | ATXN2 | chr12 | 111947353 | - | ENST00000539060 | BRAP | chr12 | 112087846 | - | 2451 | 1723 | 31 | 2190 | 719 |
ENST00000389153 | ATXN2 | chr12 | 111947353 | - | ENST00000327551 | BRAP | chr12 | 112087846 | - | 2308 | 1723 | 31 | 2190 | 719 |
ENST00000608853 | ATXN2 | chr12 | 111947353 | - | ENST00000419234 | BRAP | chr12 | 112087846 | - | 4772 | 2251 | 253 | 2718 | 821 |
ENST00000608853 | ATXN2 | chr12 | 111947353 | - | ENST00000539060 | BRAP | chr12 | 112087846 | - | 2979 | 2251 | 253 | 2718 | 821 |
ENST00000608853 | ATXN2 | chr12 | 111947353 | - | ENST00000327551 | BRAP | chr12 | 112087846 | - | 2836 | 2251 | 253 | 2718 | 821 |
ENST00000377617 | ATXN2 | chr12 | 111947353 | - | ENST00000419234 | BRAP | chr12 | 112087846 | - | 5098 | 2577 | 162 | 3044 | 960 |
ENST00000377617 | ATXN2 | chr12 | 111947353 | - | ENST00000539060 | BRAP | chr12 | 112087846 | - | 3305 | 2577 | 162 | 3044 | 960 |
ENST00000377617 | ATXN2 | chr12 | 111947353 | - | ENST00000327551 | BRAP | chr12 | 112087846 | - | 3162 | 2577 | 162 | 3044 | 960 |
ENST00000535949 | ATXN2 | chr12 | 111947353 | - | ENST00000419234 | BRAP | chr12 | 112087846 | - | 4195 | 1674 | 126 | 2141 | 671 |
ENST00000535949 | ATXN2 | chr12 | 111947353 | - | ENST00000539060 | BRAP | chr12 | 112087846 | - | 2402 | 1674 | 126 | 2141 | 671 |
ENST00000535949 | ATXN2 | chr12 | 111947353 | - | ENST00000327551 | BRAP | chr12 | 112087846 | - | 2259 | 1674 | 126 | 2141 | 671 |
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 |
ENST00000389153 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.000345285 | 0.99965477 |
ENST00000389153 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.0014125 | 0.9985875 |
ENST00000389153 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.001775398 | 0.99822456 |
ENST00000608853 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.001898094 | 0.9981019 |
ENST00000608853 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.009248476 | 0.9907515 |
ENST00000608853 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.010979474 | 0.9890205 |
ENST00000377617 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.000662589 | 0.9993374 |
ENST00000377617 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.002919465 | 0.9970805 |
ENST00000377617 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.003393607 | 0.99660635 |
ENST00000535949 | ENST00000419234 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.000218255 | 0.9997818 |
ENST00000535949 | ENST00000539060 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.001194751 | 0.9988053 |
ENST00000535949 | ENST00000327551 | ATXN2 | chr12 | 111947353 | - | BRAP | chr12 | 112087846 | - | 0.001544913 | 0.99845505 |
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Fusion Genomic Features for ATXN2-BRAP |
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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Fusion Protein Features for ATXN2-BRAP |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:111947353/chr12:112087846) - 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 |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
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 | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000377617 | - | 14 | 25 | 166_187 | 805 | 1314.0 | Compositional bias | Note=Poly-Gln |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000377617 | - | 14 | 25 | 213_223 | 805 | 1314.0 | Compositional bias | Note=Poly-Ser |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000377617 | - | 14 | 25 | 47_158 | 805 | 1314.0 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000377617 | - | 14 | 25 | 551_734 | 805 | 1314.0 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000377617 | - | 14 | 25 | 55_64 | 805 | 1314.0 | Compositional bias | Note=Poly-Pro |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000550104 | - | 14 | 24 | 166_187 | 805 | 1015.3333333333334 | Compositional bias | Note=Poly-Gln |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000550104 | - | 14 | 24 | 213_223 | 805 | 1015.3333333333334 | Compositional bias | Note=Poly-Ser |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000550104 | - | 14 | 24 | 47_158 | 805 | 1015.3333333333334 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000550104 | - | 14 | 24 | 551_734 | 805 | 1015.3333333333334 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000550104 | - | 14 | 24 | 55_64 | 805 | 1015.3333333333334 | Compositional bias | Note=Poly-Pro |
- 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 | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000377617 | - | 14 | 25 | 929_1085 | 805 | 1314.0 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111947353 | chr12:112087846 | ENST00000550104 | - | 14 | 24 | 929_1085 | 805 | 1015.3333333333334 | Compositional bias | Note=Pro-rich |
Tgene | BRAP | chr12:111947353 | chr12:112087846 | ENST00000419234 | 9 | 12 | 429_537 | 437 | 593.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | BRAP | chr12:111947353 | chr12:112087846 | ENST00000419234 | 9 | 12 | 264_304 | 437 | 593.0 | Zinc finger | RING-type | |
Tgene | BRAP | chr12:111947353 | chr12:112087846 | ENST00000419234 | 9 | 12 | 315_376 | 437 | 593.0 | Zinc finger | UBP-type |
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Fusion Gene Sequence for ATXN2-BRAP |
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. |
>8416_8416_1_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000377617_BRAP_chr12_112087846_ENST00000327551_length(transcript)=3162nt_BP=2577nt ACCCCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCC CTCCGACTTCCGGTAAAGAGTCCCTATCCGCACCTCCGCTCCCACCCGGCGCCTCGGCGCGCCCGCCCTCCGATGCGCTCAGCGGCCGCA GCTCCTCGGAGTCCCGCGGTGGCCACCGAGTCTCGCCGCTTCGCCGCAGCCAGGTGGCCCGGGTGGCGCTCGCTCCAGCGGCCGGCGCGG CGGAGCGGGCGGGGCGGCGGTGGCGCGGCCCCGGGACCGTATCCCTCCGCCGCCCCTCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGG CAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGGCGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGT CTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGGCGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCG CTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCCCGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTAT GGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAG CAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCTAGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCG TCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGA AACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTT GGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGAT GCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTT GTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACAC AAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGG GATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTA GAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCT CGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATA AACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATG GGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTT AATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCT CGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCT CCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTT TCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACC AGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAAC AGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCT GCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAG AACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTT GTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACA ATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACA AAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTA AAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTC TACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCG GCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAG ACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAG >8416_8416_1_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000377617_BRAP_chr12_112087846_ENST00000327551_length(amino acids)=960AA_BP=33 MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGPGPPPSRQSSPPSASDCFGSNGNGGGAFRPG SRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQ QQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVH ILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISA KVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIES SAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSG SDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRH PRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAV AMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMK TKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQ -------------------------------------------------------------- >8416_8416_2_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000377617_BRAP_chr12_112087846_ENST00000419234_length(transcript)=5098nt_BP=2577nt ACCCCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCC CTCCGACTTCCGGTAAAGAGTCCCTATCCGCACCTCCGCTCCCACCCGGCGCCTCGGCGCGCCCGCCCTCCGATGCGCTCAGCGGCCGCA GCTCCTCGGAGTCCCGCGGTGGCCACCGAGTCTCGCCGCTTCGCCGCAGCCAGGTGGCCCGGGTGGCGCTCGCTCCAGCGGCCGGCGCGG CGGAGCGGGCGGGGCGGCGGTGGCGCGGCCCCGGGACCGTATCCCTCCGCCGCCCCTCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGG CAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGGCGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGT CTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGGCGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCG CTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCCCGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTAT GGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAG CAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCTAGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCG TCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGA AACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTT GGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGAT GCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTT GTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACAC AAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGG GATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTA GAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCT CGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATA AACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATG GGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTT AATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCT CGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCT CCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTT TCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACC AGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAAC AGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCT GCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAG AACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTT GTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACA ATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACA AAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTA AAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTC TACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCG GCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAG ACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAG GATCAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGATGTAGTGAATGTAAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCG CTGCGTTCGAAAAGGTCTTAAGAGTTCACTAACCTCACATTCTAATGACCATTTTGCCTTCCTGCTTGGTAGAAGCCCCAACTCTGCTGT GCATTTTTCCATTGTATTTATGGAGTTGGCGTATTTGACATTCAGTTCTGGGGTAGGTTTAAGATGTTAAGTTATTTCTTGTAACCTCAA AGGTAAGGTTATCTAGCACTAAAGCACCAAACCTCTCTGAGGGCATAACAGCTGCTTTAAAGAGAGGTTTCCATTGGCTATTAAGGAGTT ATGAAAACTCCCTAGCAATAGTGTCATATCATTATCATCTCCCCCTTCCTCTGGGGAGTGGAAGAATTGCTTGAATGTTATCTGAAAAGA GGCCTGGTAGTAAACCAGGCCCTGGCTCTTTACCAGCAGTCATCTCTTCTTGCTCTGGGGCCAGCCAGGAAAAACAAACAACCCGGGGCA CATTGGGTAGACTCAGTGTAGGAAAAATGGTGGCAGCTCCACTGTTTATTTTTGGTGACTTCGTACATCATTATGAACCGCAATTAAGGA GGAGGCTTAATGGCTGTTCCCAAACTCAAATCTCAGAGTGGGTATCCTAGCATCTAGCAAGACTGAGTGGGGAGATTTCTCATCCGTGTG AAAATGTAGAGTGAGGCCTCTGACTAGCTAATTGTGTATTTTGTTGGGTTTAGTATTTTCTAAATGTTTACAAAATATTGGGCTGCATGT TCAGGTTGCAGCTAGAGGGAGCTTGGGCAGATTTTCAATTACGCTTTCAAGATATAACCAAAAGCTGTTTCTAAATCCTAAAATTAGAAT TTCAACAGAGCCCCCTTTAGAACAGTCATATAACGCTTGTGTGGGCCAACAGAGGGGCTGTGTACTCTCTCTGGAACCATAAATGTCAAA TAATTTATAACCTGCAGTAATTGAGCAAACTTAAAATAAGACCTGTGTTGGAATTTAGTTTCTTGAAGAGGTAGAGGGATAGGTTAGTAA GATGTATTGTTAAACAACAGGTTTTAGTTTTTGCTTTATAATTAGCCACAGGTTTTCAAATGATCACATTTCAGAATAGGTTTTTAGCCT GTAATTAGGCCTCATCCCCTTTGACCTAAATGTCTTACATGTTACTTGTTAGCACATCAACTGTATCACTAATCACCATCTGTTTTTGTG GGATGTGCTGCAGCATTTCCCAAAAAACTTTACGTGTAATGTTGCAAAATGAATGTACTCAGACATTCTTAATTTTTACTTAGGGCAGAC CAACTCTTTGAGTCTCTCTTGGACTTATATATACAGATATCTTAAGAGTGGGAATGTAAAGCATAACCTAATTCTCTTTCCTATAGAGAT TCTATTTTATTTAAAATCTATTTTTACACTAGTTAGAATCCTGCTGTTTTGGCCAAGTACTTGTCTTGCATGTCTGACCTTGCAGAAGCT GGGGTGGATCATAGCATACTAATGAAGAGAATTAGAAGTAGTTTACAAAGCTCGCTCACTCCTCATTTCTCTGTGATCCCTTCTATCCAG TGGCCCCACCACCACCTGGGAAAACAGATTTTTCAGTACAGGTGGGATAAATGCTCTGAAAGGCTGTGCCCAGAGGAATGAGCAAATAGG CAAGTGTTTCCAAACTACTTGGAGGTTTACAAAAAATATGTCCCAGAAAAAAAAAAAATCTTACCAAGATACGTAAAGAAAAAAAAATTT TTTTTTAAACAGTCAAAGAGTCATGTTTGAATTTCACAAAATCACATCAGACAGAAGTTGTTTTCTTCAGGAGGGAAATGAACCACTTAA >8416_8416_2_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000377617_BRAP_chr12_112087846_ENST00000419234_length(amino acids)=960AA_BP=33 MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGPGPPPSRQSSPPSASDCFGSNGNGGGAFRPG SRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQ QQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVH ILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISA KVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIES SAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSG SDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRH PRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAV AMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMK TKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQ -------------------------------------------------------------- >8416_8416_3_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000377617_BRAP_chr12_112087846_ENST00000539060_length(transcript)=3305nt_BP=2577nt ACCCCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCC CTCCGACTTCCGGTAAAGAGTCCCTATCCGCACCTCCGCTCCCACCCGGCGCCTCGGCGCGCCCGCCCTCCGATGCGCTCAGCGGCCGCA GCTCCTCGGAGTCCCGCGGTGGCCACCGAGTCTCGCCGCTTCGCCGCAGCCAGGTGGCCCGGGTGGCGCTCGCTCCAGCGGCCGGCGCGG CGGAGCGGGCGGGGCGGCGGTGGCGCGGCCCCGGGACCGTATCCCTCCGCCGCCCCTCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGG CAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGGCGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGT CTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGGCGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCG CTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCCCGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTAT GGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAG CAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCTAGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCG TCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGA AACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTT GGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGAT GCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTT GTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACAC AAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGG GATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTA GAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCT CGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATA AACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATG GGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTT AATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCT CGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCT CCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTT TCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACC AGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAAC AGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCT GCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAG AACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTT GTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACA ATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACA AAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTA AAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTC TACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCG GCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAG ACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAG GATCAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGATGTAGTGAATGTAAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCG >8416_8416_3_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000377617_BRAP_chr12_112087846_ENST00000539060_length(amino acids)=960AA_BP=33 MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGPGPPPSRQSSPPSASDCFGSNGNGGGAFRPG SRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQ QQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVH ILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISA KVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIES SAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSG SDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRH PRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAV AMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMK TKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQ -------------------------------------------------------------- >8416_8416_4_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000389153_BRAP_chr12_112087846_ENST00000327551_length(transcript)=2308nt_BP=1723nt CGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGG AATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTTGGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGA AGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACG TGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGA TGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGC CAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGGGATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGT AGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGC AAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATA CACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAG AGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCA CACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTC TCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCG GCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCC AAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATC CCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCC AAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCA AGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTAC CCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAAC ATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAA GAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACAATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCT AAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAAT GAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGA TCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGAC CCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTC CAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGG >8416_8416_4_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000389153_BRAP_chr12_112087846_ENST00000327551_length(amino acids)=719AA_BP=562 MGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFK CSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSS YTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQ NSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSA HGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPR SPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENK GISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVL -------------------------------------------------------------- >8416_8416_5_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000389153_BRAP_chr12_112087846_ENST00000419234_length(transcript)=4244nt_BP=1723nt CGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGG AATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTTGGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGA AGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACG TGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGA TGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGC CAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGGGATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGT AGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGC AAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATA CACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAG AGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCA CACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTC TCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCG GCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCC AAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATC CCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCC AAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCA AGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTAC CCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAAC ATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAA GAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACAATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCT AAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAAT GAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGA TCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGAC CCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTC CAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGG GACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGATCAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGA TGTAGTGAATGTAAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCGCTGCGTTCGAAAAGGTCTTAAGAGTTCACTAACCTCACATTCTA ATGACCATTTTGCCTTCCTGCTTGGTAGAAGCCCCAACTCTGCTGTGCATTTTTCCATTGTATTTATGGAGTTGGCGTATTTGACATTCA GTTCTGGGGTAGGTTTAAGATGTTAAGTTATTTCTTGTAACCTCAAAGGTAAGGTTATCTAGCACTAAAGCACCAAACCTCTCTGAGGGC ATAACAGCTGCTTTAAAGAGAGGTTTCCATTGGCTATTAAGGAGTTATGAAAACTCCCTAGCAATAGTGTCATATCATTATCATCTCCCC CTTCCTCTGGGGAGTGGAAGAATTGCTTGAATGTTATCTGAAAAGAGGCCTGGTAGTAAACCAGGCCCTGGCTCTTTACCAGCAGTCATC TCTTCTTGCTCTGGGGCCAGCCAGGAAAAACAAACAACCCGGGGCACATTGGGTAGACTCAGTGTAGGAAAAATGGTGGCAGCTCCACTG TTTATTTTTGGTGACTTCGTACATCATTATGAACCGCAATTAAGGAGGAGGCTTAATGGCTGTTCCCAAACTCAAATCTCAGAGTGGGTA TCCTAGCATCTAGCAAGACTGAGTGGGGAGATTTCTCATCCGTGTGAAAATGTAGAGTGAGGCCTCTGACTAGCTAATTGTGTATTTTGT TGGGTTTAGTATTTTCTAAATGTTTACAAAATATTGGGCTGCATGTTCAGGTTGCAGCTAGAGGGAGCTTGGGCAGATTTTCAATTACGC TTTCAAGATATAACCAAAAGCTGTTTCTAAATCCTAAAATTAGAATTTCAACAGAGCCCCCTTTAGAACAGTCATATAACGCTTGTGTGG GCCAACAGAGGGGCTGTGTACTCTCTCTGGAACCATAAATGTCAAATAATTTATAACCTGCAGTAATTGAGCAAACTTAAAATAAGACCT GTGTTGGAATTTAGTTTCTTGAAGAGGTAGAGGGATAGGTTAGTAAGATGTATTGTTAAACAACAGGTTTTAGTTTTTGCTTTATAATTA GCCACAGGTTTTCAAATGATCACATTTCAGAATAGGTTTTTAGCCTGTAATTAGGCCTCATCCCCTTTGACCTAAATGTCTTACATGTTA CTTGTTAGCACATCAACTGTATCACTAATCACCATCTGTTTTTGTGGGATGTGCTGCAGCATTTCCCAAAAAACTTTACGTGTAATGTTG CAAAATGAATGTACTCAGACATTCTTAATTTTTACTTAGGGCAGACCAACTCTTTGAGTCTCTCTTGGACTTATATATACAGATATCTTA AGAGTGGGAATGTAAAGCATAACCTAATTCTCTTTCCTATAGAGATTCTATTTTATTTAAAATCTATTTTTACACTAGTTAGAATCCTGC TGTTTTGGCCAAGTACTTGTCTTGCATGTCTGACCTTGCAGAAGCTGGGGTGGATCATAGCATACTAATGAAGAGAATTAGAAGTAGTTT ACAAAGCTCGCTCACTCCTCATTTCTCTGTGATCCCTTCTATCCAGTGGCCCCACCACCACCTGGGAAAACAGATTTTTCAGTACAGGTG GGATAAATGCTCTGAAAGGCTGTGCCCAGAGGAATGAGCAAATAGGCAAGTGTTTCCAAACTACTTGGAGGTTTACAAAAAATATGTCCC AGAAAAAAAAAAAATCTTACCAAGATACGTAAAGAAAAAAAAATTTTTTTTTAAACAGTCAAAGAGTCATGTTTGAATTTCACAAAATCA CATCAGACAGAAGTTGTTTTCTTCAGGAGGGAAATGAACCACTTAATATACCCATACTACCTTGAACAATGAAATTGAATTAAAATAGCC >8416_8416_5_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000389153_BRAP_chr12_112087846_ENST00000419234_length(amino acids)=719AA_BP=562 MGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFK CSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSS YTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQ NSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSA HGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPR SPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENK GISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVL -------------------------------------------------------------- >8416_8416_6_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000389153_BRAP_chr12_112087846_ENST00000539060_length(transcript)=2451nt_BP=1723nt CGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGG AATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTTGGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGA AGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACG TGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGA TGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGC CAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGGGATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGT AGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGC AAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATA CACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAG AGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCA CACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTC TCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCG GCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCC AAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATC CCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCC AAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCA AGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTAC CCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAAC ATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAA GAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACAATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCT AAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAAT GAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGA TCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGAC CCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTC CAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGG GACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGATCAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGA TGTAGTGAATGTAAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCGCTGCGTTCGAAAAGGTCTTAAGAGTTCACTAACCTCACATTCTA >8416_8416_6_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000389153_BRAP_chr12_112087846_ENST00000539060_length(amino acids)=719AA_BP=562 MGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFK CSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSS YTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQ NSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSA HGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPR SPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENK GISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVL -------------------------------------------------------------- >8416_8416_7_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000535949_BRAP_chr12_112087846_ENST00000327551_length(transcript)=2259nt_BP=1674nt CCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCCCTC CGACTTCCGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTTTGTGATTTGGTACTTGATGCC GCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTG GTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAA GAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGGGAT CCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAA AGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGA GTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAAC ACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGC CAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAAT GGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGG GCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCT GTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCT GCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGT CCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGT ATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCA TCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAAC TCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTT TCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACAATT GAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAA GTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAA GAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTAC CTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCC TCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACA TCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGAT >8416_8416_7_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000535949_BRAP_chr12_112087846_ENST00000327551_length(amino acids)=671AA_BP=514 MRMVHILTSVVCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGEL TANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEE KYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSP SSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEF VSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRA VTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLND LLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQLRDVMFYLETQQKINHLPA -------------------------------------------------------------- >8416_8416_8_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000535949_BRAP_chr12_112087846_ENST00000419234_length(transcript)=4195nt_BP=1674nt CCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCCCTC CGACTTCCGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTTTGTGATTTGGTACTTGATGCC GCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTG GTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAA GAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGGGAT CCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAA AGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGA GTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAAC ACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGC CAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAAT GGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGG GCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCT GTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCT GCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGT CCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGT ATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCA TCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAAC TCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTT TCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACAATT GAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAA GTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAA GAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTAC CTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCC TCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACA TCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGAT CAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGATGTAGTGAATGTAAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCGCTG CGTTCGAAAAGGTCTTAAGAGTTCACTAACCTCACATTCTAATGACCATTTTGCCTTCCTGCTTGGTAGAAGCCCCAACTCTGCTGTGCA TTTTTCCATTGTATTTATGGAGTTGGCGTATTTGACATTCAGTTCTGGGGTAGGTTTAAGATGTTAAGTTATTTCTTGTAACCTCAAAGG TAAGGTTATCTAGCACTAAAGCACCAAACCTCTCTGAGGGCATAACAGCTGCTTTAAAGAGAGGTTTCCATTGGCTATTAAGGAGTTATG AAAACTCCCTAGCAATAGTGTCATATCATTATCATCTCCCCCTTCCTCTGGGGAGTGGAAGAATTGCTTGAATGTTATCTGAAAAGAGGC CTGGTAGTAAACCAGGCCCTGGCTCTTTACCAGCAGTCATCTCTTCTTGCTCTGGGGCCAGCCAGGAAAAACAAACAACCCGGGGCACAT TGGGTAGACTCAGTGTAGGAAAAATGGTGGCAGCTCCACTGTTTATTTTTGGTGACTTCGTACATCATTATGAACCGCAATTAAGGAGGA GGCTTAATGGCTGTTCCCAAACTCAAATCTCAGAGTGGGTATCCTAGCATCTAGCAAGACTGAGTGGGGAGATTTCTCATCCGTGTGAAA ATGTAGAGTGAGGCCTCTGACTAGCTAATTGTGTATTTTGTTGGGTTTAGTATTTTCTAAATGTTTACAAAATATTGGGCTGCATGTTCA GGTTGCAGCTAGAGGGAGCTTGGGCAGATTTTCAATTACGCTTTCAAGATATAACCAAAAGCTGTTTCTAAATCCTAAAATTAGAATTTC AACAGAGCCCCCTTTAGAACAGTCATATAACGCTTGTGTGGGCCAACAGAGGGGCTGTGTACTCTCTCTGGAACCATAAATGTCAAATAA TTTATAACCTGCAGTAATTGAGCAAACTTAAAATAAGACCTGTGTTGGAATTTAGTTTCTTGAAGAGGTAGAGGGATAGGTTAGTAAGAT GTATTGTTAAACAACAGGTTTTAGTTTTTGCTTTATAATTAGCCACAGGTTTTCAAATGATCACATTTCAGAATAGGTTTTTAGCCTGTA ATTAGGCCTCATCCCCTTTGACCTAAATGTCTTACATGTTACTTGTTAGCACATCAACTGTATCACTAATCACCATCTGTTTTTGTGGGA TGTGCTGCAGCATTTCCCAAAAAACTTTACGTGTAATGTTGCAAAATGAATGTACTCAGACATTCTTAATTTTTACTTAGGGCAGACCAA CTCTTTGAGTCTCTCTTGGACTTATATATACAGATATCTTAAGAGTGGGAATGTAAAGCATAACCTAATTCTCTTTCCTATAGAGATTCT ATTTTATTTAAAATCTATTTTTACACTAGTTAGAATCCTGCTGTTTTGGCCAAGTACTTGTCTTGCATGTCTGACCTTGCAGAAGCTGGG GTGGATCATAGCATACTAATGAAGAGAATTAGAAGTAGTTTACAAAGCTCGCTCACTCCTCATTTCTCTGTGATCCCTTCTATCCAGTGG CCCCACCACCACCTGGGAAAACAGATTTTTCAGTACAGGTGGGATAAATGCTCTGAAAGGCTGTGCCCAGAGGAATGAGCAAATAGGCAA GTGTTTCCAAACTACTTGGAGGTTTACAAAAAATATGTCCCAGAAAAAAAAAAAATCTTACCAAGATACGTAAAGAAAAAAAAATTTTTT TTTAAACAGTCAAAGAGTCATGTTTGAATTTCACAAAATCACATCAGACAGAAGTTGTTTTCTTCAGGAGGGAAATGAACCACTTAATAT >8416_8416_8_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000535949_BRAP_chr12_112087846_ENST00000419234_length(amino acids)=671AA_BP=514 MRMVHILTSVVCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGEL TANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEE KYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSP SSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEF VSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRA VTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLND LLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQLRDVMFYLETQQKINHLPA -------------------------------------------------------------- >8416_8416_9_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000535949_BRAP_chr12_112087846_ENST00000539060_length(transcript)=2402nt_BP=1674nt CCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCCCTC CGACTTCCGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTTTGTGATTTGGTACTTGATGCC GCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTG GTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAA GAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGGGAT CCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAA AGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGA GTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAAC ACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGC CAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAAT GGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGG GCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCT GTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCT GCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGT CCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGT ATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCA TCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAAC TCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTT TCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGATTAACAACATGAAGACCAAGTTTAAAGAAACAATT GAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCAGTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAA GTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTTGCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAA GAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCACCGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTAC CTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAATCCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCC TCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCGCAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACA TCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTAAATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGAT CAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGATGTAGTGAATGTAAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCGCTG >8416_8416_9_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000535949_BRAP_chr12_112087846_ENST00000539060_length(amino acids)=671AA_BP=514 MRMVHILTSVVCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGEL TANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEE KYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSP SSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEF VSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRA VTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLND LLKEKQSVERKCTQLNTKVAKLTNELKEEQEMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQLRDVMFYLETQQKINHLPA -------------------------------------------------------------- >8416_8416_10_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000608853_BRAP_chr12_112087846_ENST00000327551_length(transcript)=2836nt_BP=2251nt TCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGGCAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGG CGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGTCTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGG CGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCGCTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCC CGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTATGGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCT AGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCGTCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTC CGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAA TATGAGGATGGTTCATATACTTACATCAGTTGTTGGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAA AACTTACAGTCCGAAGTGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAAT GGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGA CTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACT TGAGGCTTTGGAAAATGACGTATCTAATGGATGGGATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTA TGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGC AGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCA GAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATC CTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTT CAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTC TCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACC CCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCC AAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACC CAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCC TAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTAT TCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGA GGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTT CTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAG GATTAACAACATGAAGACCAAGTTTAAAGAAACAATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCA GTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTT GCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCAC CGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAAT CCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCG CAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTA >8416_8416_10_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000608853_BRAP_chr12_112087846_ENST00000327551_length(amino acids)=821AA_BP=664 MARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSS VVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGP KREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENY GVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQR NREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPP SRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSG VPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPN ETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQ EMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQLRDVMFYLETQQKINHLPAETRQEIQEGQINIAMASASSPASSGGSGKL -------------------------------------------------------------- >8416_8416_11_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000608853_BRAP_chr12_112087846_ENST00000419234_length(transcript)=4772nt_BP=2251nt TCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGGCAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGG CGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGTCTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGG CGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCGCTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCC CGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTATGGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCT AGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCGTCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTC CGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAA TATGAGGATGGTTCATATACTTACATCAGTTGTTGGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAA AACTTACAGTCCGAAGTGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAAT GGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGA CTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACT TGAGGCTTTGGAAAATGACGTATCTAATGGATGGGATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTA TGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGC AGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCA GAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATC CTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTT CAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTC TCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACC CCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCC AAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACC CAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCC TAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTAT TCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGA GGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTT CTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAG GATTAACAACATGAAGACCAAGTTTAAAGAAACAATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCA GTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTT GCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCAC CGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAAT CCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCG CAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTA AATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGATCAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGATGTAGTGAATGT AAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCGCTGCGTTCGAAAAGGTCTTAAGAGTTCACTAACCTCACATTCTAATGACCATTTTG CCTTCCTGCTTGGTAGAAGCCCCAACTCTGCTGTGCATTTTTCCATTGTATTTATGGAGTTGGCGTATTTGACATTCAGTTCTGGGGTAG GTTTAAGATGTTAAGTTATTTCTTGTAACCTCAAAGGTAAGGTTATCTAGCACTAAAGCACCAAACCTCTCTGAGGGCATAACAGCTGCT TTAAAGAGAGGTTTCCATTGGCTATTAAGGAGTTATGAAAACTCCCTAGCAATAGTGTCATATCATTATCATCTCCCCCTTCCTCTGGGG AGTGGAAGAATTGCTTGAATGTTATCTGAAAAGAGGCCTGGTAGTAAACCAGGCCCTGGCTCTTTACCAGCAGTCATCTCTTCTTGCTCT GGGGCCAGCCAGGAAAAACAAACAACCCGGGGCACATTGGGTAGACTCAGTGTAGGAAAAATGGTGGCAGCTCCACTGTTTATTTTTGGT GACTTCGTACATCATTATGAACCGCAATTAAGGAGGAGGCTTAATGGCTGTTCCCAAACTCAAATCTCAGAGTGGGTATCCTAGCATCTA GCAAGACTGAGTGGGGAGATTTCTCATCCGTGTGAAAATGTAGAGTGAGGCCTCTGACTAGCTAATTGTGTATTTTGTTGGGTTTAGTAT TTTCTAAATGTTTACAAAATATTGGGCTGCATGTTCAGGTTGCAGCTAGAGGGAGCTTGGGCAGATTTTCAATTACGCTTTCAAGATATA ACCAAAAGCTGTTTCTAAATCCTAAAATTAGAATTTCAACAGAGCCCCCTTTAGAACAGTCATATAACGCTTGTGTGGGCCAACAGAGGG GCTGTGTACTCTCTCTGGAACCATAAATGTCAAATAATTTATAACCTGCAGTAATTGAGCAAACTTAAAATAAGACCTGTGTTGGAATTT AGTTTCTTGAAGAGGTAGAGGGATAGGTTAGTAAGATGTATTGTTAAACAACAGGTTTTAGTTTTTGCTTTATAATTAGCCACAGGTTTT CAAATGATCACATTTCAGAATAGGTTTTTAGCCTGTAATTAGGCCTCATCCCCTTTGACCTAAATGTCTTACATGTTACTTGTTAGCACA TCAACTGTATCACTAATCACCATCTGTTTTTGTGGGATGTGCTGCAGCATTTCCCAAAAAACTTTACGTGTAATGTTGCAAAATGAATGT ACTCAGACATTCTTAATTTTTACTTAGGGCAGACCAACTCTTTGAGTCTCTCTTGGACTTATATATACAGATATCTTAAGAGTGGGAATG TAAAGCATAACCTAATTCTCTTTCCTATAGAGATTCTATTTTATTTAAAATCTATTTTTACACTAGTTAGAATCCTGCTGTTTTGGCCAA GTACTTGTCTTGCATGTCTGACCTTGCAGAAGCTGGGGTGGATCATAGCATACTAATGAAGAGAATTAGAAGTAGTTTACAAAGCTCGCT CACTCCTCATTTCTCTGTGATCCCTTCTATCCAGTGGCCCCACCACCACCTGGGAAAACAGATTTTTCAGTACAGGTGGGATAAATGCTC TGAAAGGCTGTGCCCAGAGGAATGAGCAAATAGGCAAGTGTTTCCAAACTACTTGGAGGTTTACAAAAAATATGTCCCAGAAAAAAAAAA AATCTTACCAAGATACGTAAAGAAAAAAAAATTTTTTTTTAAACAGTCAAAGAGTCATGTTTGAATTTCACAAAATCACATCAGACAGAA GTTGTTTTCTTCAGGAGGGAAATGAACCACTTAATATACCCATACTACCTTGAACAATGAAATTGAATTAAAATAGCCAAACTTTGAAAT >8416_8416_11_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000608853_BRAP_chr12_112087846_ENST00000419234_length(amino acids)=821AA_BP=664 MARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSS VVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGP KREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENY GVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQR NREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPP SRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSG VPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPN ETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQ EMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQLRDVMFYLETQQKINHLPAETRQEIQEGQINIAMASASSPASSGGSGKL -------------------------------------------------------------- >8416_8416_12_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000608853_BRAP_chr12_112087846_ENST00000539060_length(transcript)=2979nt_BP=2251nt TCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGGCAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGG CGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGTCTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGG CGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCGCTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCC CGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTATGGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCT AGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCGTCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTC CGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAA TATGAGGATGGTTCATATACTTACATCAGTTGTTGGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAA AACTTACAGTCCGAAGTGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAAT GGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGA CTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACT TGAGGCTTTGGAAAATGACGTATCTAATGGATGGGATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTA TGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGC AGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCA GAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATC CTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTT CAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTC TCGCTACCAGTCAGGTCCCAACTCTCTTCCACCTCGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACC CCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCTCCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCC AAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACC CAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCC TAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTAT TCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGA GGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTT CTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAG GATTAACAACATGAAGACCAAGTTTAAAGAAACAATTGAGAAGTGTGATAATCTAGAGCACAAACTAAATGATCTCCTAAAAGAAAAGCA GTCTGTGGAAAGAAAGTGCACTCAGCTAAACACAAAAGTGGCCAAACTCACCAACGAGCTCAAAGAGGAGCAGGAAATGAACAAGTGTTT GCGAGCCAACCAAGTCCTCCTGCAGAACAAGCTAAAAGAGGAGGAGAGGGTGCTGAAGGAGACCTGTGACCAAAAAGATCTGCAGATCAC CGAGATCCAGGAGCAGCTGCGTGACGTCATGTTCTACCTGGAGACACAGCAGAAGATCAACCATCTGCCTGCCGAGACCCGGCAGGAAAT CCAGGAGGGACAGATCAACATCGCCATGGCCTCGGCCTCGAGCCCTGCCTCTTCGGGGGGCAGTGGGAAGTTGCCCTCCAGGAAGGGCCG CAGCAAGAGGGGCAAGTGACCTTCAGAGCAACAGACATCCCTGAGACTGTTCTCCCTGACACTGTGAGAGTGTGCTGGGACCTTCAGCTA AATGTGAGGGTGGGCCCTAATAAGTACAAGTGAGGATCAAGCCACAGTTGTTTGGCTCTTTCATTTGCTAGTGTGTGATGTAGTGAATGT AAAGGGTGCTGACTGGAGAGCTGATAGAAAGGCGCTGCGTTCGAAAAGGTCTTAAGAGTTCACTAACCTCACATTCTAATGACCATTTTG >8416_8416_12_ATXN2-BRAP_ATXN2_chr12_111947353_ENST00000608853_BRAP_chr12_112087846_ENST00000539060_length(amino acids)=821AA_BP=664 MARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSS VVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGP KREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENY GVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQR NREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPP SRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSG VPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPN ETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRINNMKTKFKETIEKCDNLEHKLNDLLKEKQSVERKCTQLNTKVAKLTNELKEEQ EMNKCLRANQVLLQNKLKEEERVLKETCDQKDLQITEIQEQLRDVMFYLETQQKINHLPAETRQEIQEGQINIAMASASSPASSGGSGKL -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ATXN2-BRAP |
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 ATXN2-BRAP |
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 ATXN2-BRAP |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATXN2 | C0752121 | Spinocerebellar Ataxia Type 2 | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ATXN2 | C0002736 | Amyotrophic Lateral Sclerosis | 2 | CTD_human;ORPHANET |
Hgene | ATXN2 | C0087012 | Ataxia, Spinocerebellar | 2 | CTD_human |
Hgene | ATXN2 | C0752120 | Spinocerebellar Ataxia Type 1 | 2 | CTD_human |
Hgene | ATXN2 | C0752122 | Spinocerebellar Ataxia Type 4 | 2 | CTD_human |
Hgene | ATXN2 | C0752123 | Spinocerebellar Ataxia Type 5 | 2 | CTD_human |
Hgene | ATXN2 | C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | 2 | CTD_human |
Hgene | ATXN2 | C0752125 | Spinocerebellar Ataxia Type 7 | 2 | CTD_human |
Hgene | ATXN2 | C0017612 | Glaucoma, Open-Angle | 1 | CTD_human |
Hgene | ATXN2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ATXN2 | C0271148 | Secondary Open Angle Glaucoma | 1 | CTD_human |
Hgene | ATXN2 | C0339573 | Glaucoma, Primary Open Angle | 1 | CTD_human |
Hgene | ATXN2 | C0393554 | Amyotrophic Lateral Sclerosis With Dementia | 1 | CTD_human |
Hgene | ATXN2 | C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | 1 | CTD_human |
Tgene | C0027051 | Myocardial Infarction | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET |