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Fusion gene ID: 23217 |
FusionGeneSummary for MYOT_BOLA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYOT_BOLA2 | Fusion gene ID: 23217 | Hgene | Tgene | Gene symbol | MYOT | BOLA2 | Gene ID | 9499 | 654483 |
| Gene name | myotilin | bolA family member 2B | |
| Synonyms | LGMD1|LGMD1A|MFM3|TTID|TTOD | BOLA2 | |
| Cytomap | 5q31.2 | 16p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myotilin57 kDa cytoskeletal proteinmyofibrillar titin-like Ig domains proteintitin immunoglobulin domain protein (myotilin) | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UBF9 | Q9H3K6 | |
| Ensembl transtripts involved in fusion gene | ENST00000239926, ENST00000421631, ENST00000509812, ENST00000515645, | ENST00000330978, | |
| Fusion gene scores | * DoF score | 6 X 7 X 1=42 | 19 X 26 X 1=494 |
| # samples | 9 | 28 | |
| ** MAII score | log2(9/42*10)=1.09953567355091 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(28/494*10)=-0.819084214639711 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MYOT [Title/Abstract] AND BOLA2 [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 | BOLA2 | GO:0044571 | [2Fe-2S] cluster assembly | 27519415 |
| Tgene | BOLA2 | GO:0097428 | protein maturation by iron-sulfur cluster transfer | 27519415 |
| 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 | DB249980 | MYOT | chr5 | 137089701 | - | BOLA2 | chr16 | 29874174 | - | ||
| ChiTaRS3.1 | AK310988 | MYOT | chr5 | 137089701 | - | BOLA2 | chr16 | 29874174 | - |
| * 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-intron | ENST00000239926 | ENST00000330978 | MYOT | chr5 | 137089701 | - | BOLA2 | chr16 | 29874174 | - |
| intron-intron | ENST00000421631 | ENST00000330978 | MYOT | chr5 | 137089701 | - | BOLA2 | chr16 | 29874174 | - |
| intron-intron | ENST00000509812 | ENST00000330978 | MYOT | chr5 | 137089701 | - | BOLA2 | chr16 | 29874174 | - |
| intron-intron | ENST00000515645 | ENST00000330978 | MYOT | chr5 | 137089701 | - | BOLA2 | chr16 | 29874174 | - |
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FusionProtFeatures for MYOT_BOLA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYOT | BOLA2 |
| Component of a complex of multiple actin cross-linkingproteins. Involved in the control of myofibril assembly andstability at the Z lines in muscle cells.{ECO:0000269|PubMed:12499399}. | Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}. |
| 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 MYOT_BOLA2 |
| 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 MYOT_BOLA2 |
| 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 MYOT_BOLA2 |
| 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 MYOT_BOLA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MYOT | C1834659 | Muscular dystrophy, limb-girdle, type 1A | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MYOT | C0031117 | Peripheral Neuropathy | 1 | CTD_human;HPO |
| Hgene | MYOT | C0151786 | Muscle Weakness | 1 | CTD_human |
| Hgene | MYOT | C0878544 | Cardiomyopathies | 1 | CTD_human;HPO |
| Hgene | MYOT | C1836607 | MYOTILINOPATHY | 1 | CTD_human |
| Hgene | MYOT | C1866785 | Spheroid body myopathy | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MYOT | C3714934 | MYOPATHY, MYOFIBRILLAR, 3 | 1 | ORPHANET;UNIPROT |
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