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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:ATXN1-GAPVD1 (FusionGDB2 ID:8395) |
Fusion Gene Summary for ATXN1-GAPVD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATXN1-GAPVD1 | Fusion gene ID: 8395 | Hgene | Tgene | Gene symbol | ATXN1 | GAPVD1 | Gene ID | 6310 | 26130 |
| Gene name | ataxin 1 | GTPase activating protein and VPS9 domains 1 | |
| Synonyms | ATX1|D6S504E|SCA1 | GAPEX5|GAPex-5|RAP6 | |
| Cytomap | 6p22.3 | 9q33.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ataxin-1alternative ataxin1spinocerebellar ataxia type 1 protein | GTPase-activating protein and VPS9 domain-containing protein 1Rab5 exchange factorRab5-activating protein 6 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P54253 | Q14C86 | |
| Ensembl transtripts involved in fusion gene | ENST00000244769, ENST00000436367, ENST00000467008, | ENST00000265956, ENST00000297933, ENST00000394083, ENST00000394084, ENST00000394104, ENST00000394105, ENST00000470056, ENST00000495955, ENST00000312123, ENST00000469528, | |
| Fusion gene scores | * DoF score | 28 X 20 X 12=6720 | 10 X 10 X 4=400 |
| # samples | 33 | 10 | |
| ** MAII score | log2(33/6720*10)=-4.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/400*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATXN1 [Title/Abstract] AND GAPVD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ATXN1(16753464)-GAPVD1(128061167), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ATXN1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15016912 |
| Hgene | ATXN1 | GO:0051168 | nuclear export | 15615787 |
| Fusion gene breakpoints across ATXN1 (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 GAPVD1 (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 |
| ChiTaRS5.0 | N/A | DA221307 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
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Fusion Gene ORF analysis for ATXN1-GAPVD1 |
| 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 |
| 5UTR-5UTR | ENST00000244769 | ENST00000265956 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000244769 | ENST00000297933 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000244769 | ENST00000394083 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000244769 | ENST00000394084 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000244769 | ENST00000394104 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000244769 | ENST00000394105 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000244769 | ENST00000470056 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000244769 | ENST00000495955 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000265956 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000297933 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000394083 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000394084 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000394104 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000394105 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000470056 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000436367 | ENST00000495955 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000265956 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000297933 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000394083 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000394084 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000394104 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000394105 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000470056 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-5UTR | ENST00000467008 | ENST00000495955 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-intron | ENST00000244769 | ENST00000312123 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-intron | ENST00000244769 | ENST00000469528 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-intron | ENST00000436367 | ENST00000312123 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-intron | ENST00000436367 | ENST00000469528 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-intron | ENST00000467008 | ENST00000312123 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 5UTR-intron | ENST00000467008 | ENST00000469528 | ATXN1 | chr6 | 16753464 | - | GAPVD1 | chr9 | 128061167 | + |
| 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) |
| 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 |
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Fusion Genomic Features for ATXN1-GAPVD1 |
| 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) |
| ATXN1 | chr6 | 16753463 | - | GAPVD1 | chr9 | 128061168 | + | 1.08E-09 | 1 |
| ATXN1 | chr6 | 16753463 | - | GAPVD1 | chr9 | 128061168 | + | 1.08E-09 | 1 |
| 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 ATXN1-GAPVD1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:16753464/:128061167) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATXN1 | GAPVD1 |
| FUNCTION: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). {ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}. | FUNCTION: Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras. {ECO:0000269|PubMed:16410077}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for ATXN1-GAPVD1 |
| 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. |
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Fusion Gene PPI Analysis for ATXN1-GAPVD1 |
| 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 ATXN1-GAPVD1 |
| 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 ATXN1-GAPVD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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