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Fusion gene ID: 23087 |
FusionGeneSummary for MYO10_SETX |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYO10_SETX | Fusion gene ID: 23087 | Hgene | Tgene | Gene symbol | MYO10 | SETX | Gene ID | 4651 | 23064 |
| Gene name | myosin X | senataxin | |
| Synonyms | - | ALS4|AOA2|SCAR1|Sen1|bA479K20.2 | |
| Cytomap | 5p15.1 | 9q34.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | unconventional myosin-Xunconventional myosin-10unconventionnal myosin-X | probable helicase senataxinSEN1 homologamyotrophic lateral sclerosis 4 protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9HD67 | Q7Z333 | |
| Ensembl transtripts involved in fusion gene | ENST00000513610, ENST00000507288, ENST00000274203, ENST00000515803, ENST00000427430, ENST00000505695, ENST00000512061, | ENST00000477049, ENST00000224140, ENST00000393220, ENST00000372169, | |
| Fusion gene scores | * DoF score | 13 X 10 X 6=780 | 3 X 3 X 1=9 |
| # samples | 15 | 3 | |
| ** MAII score | log2(15/780*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MYO10 [Title/Abstract] AND SETX [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | SETX | GO:0000165 | MAPK cascade | 21576111 |
| Tgene | SETX | GO:0006302 | double-strand break repair | 17562789 |
| Tgene | SETX | GO:0006974 | cellular response to DNA damage stimulus | 17562789 |
| Tgene | SETX | GO:0008543 | fibroblast growth factor receptor signaling pathway | 21576111 |
| Tgene | SETX | GO:0010976 | positive regulation of neuron projection development | 21576111 |
| Tgene | SETX | GO:0034599 | cellular response to oxidative stress | 17562789 |
| Tgene | SETX | GO:0043066 | negative regulation of apoptotic process | 21576111 |
| Tgene | SETX | GO:0043491 | protein kinase B signaling | 21576111 |
| Tgene | SETX | GO:0044344 | cellular response to fibroblast growth factor stimulus | 21576111 |
| Tgene | SETX | GO:0070301 | cellular response to hydrogen peroxide | 17562789 |
| Tgene | SETX | GO:0071300 | cellular response to retinoic acid | 21576111 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | H83516 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| intron-5UTR | ENST00000513610 | ENST00000477049 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000513610 | ENST00000224140 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000513610 | ENST00000393220 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000513610 | ENST00000372169 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-5UTR | ENST00000507288 | ENST00000477049 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000507288 | ENST00000224140 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000507288 | ENST00000393220 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000507288 | ENST00000372169 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-5UTR | ENST00000274203 | ENST00000477049 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000274203 | ENST00000224140 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000274203 | ENST00000393220 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000274203 | ENST00000372169 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-5UTR | ENST00000515803 | ENST00000477049 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000515803 | ENST00000224140 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000515803 | ENST00000393220 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000515803 | ENST00000372169 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-5UTR | ENST00000427430 | ENST00000477049 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000427430 | ENST00000224140 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000427430 | ENST00000393220 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000427430 | ENST00000372169 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-5UTR | ENST00000505695 | ENST00000477049 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000505695 | ENST00000224140 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000505695 | ENST00000393220 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000505695 | ENST00000372169 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-5UTR | ENST00000512061 | ENST00000477049 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000512061 | ENST00000224140 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000512061 | ENST00000393220 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
| intron-3UTR | ENST00000512061 | ENST00000372169 | MYO10 | chr5 | 16818142 | - | SETX | chr9 | 135137588 | - |
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FusionProtFeatures for MYO10_SETX |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYO10 | SETX |
| Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.MYO10 binds to actin filaments and actin bundles and functions asplus end-directed motor. The tail domain binds to membranouscompartments containing phosphatidylinositol 3,4,5-trisphosphateor integrins, and mediates cargo transport along actin filaments.Regulates cell shape, cell spreading and cell adhesion. Stimulatesthe formation and elongation of filopodia. May play a role inneurite outgrowth and axon guidance. In hippocampal neurons itinduces the formation of dendritic filopodia by trafficking theactin-remodeling protein VASP to the tips of filopodia, where itpromotes actin elongation. Plays a role in formation of thepodosome belt in osteoclasts. {ECO:0000269|PubMed:16894163,ECO:0000269|PubMed:18570893}. Isoform Headless: Functions as a dominant-negativeregulator of isoform 1, suppressing its filopodia-inducing andaxon outgrowth-promoting activities. In hippocampal neurons, itincreases VASP retention in spine heads to induce spine formationand spine head expansion (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 |
| - 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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FusionGeneSequence for MYO10_SETX |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MYO10_SETX |
| 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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RelatedDrugs for MYO10_SETX |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MYO10_SETX |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MYO10 | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | SETX | C1853761 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 | 7 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SETX | C1865409 | Amyotrophic Lateral Sclerosis 4, Juvenile | 4 | CTD_human;ORPHANET;UNIPROT |
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