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Fusion gene ID: 4296 |
FusionGeneSummary for BOLA2_DMPK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BOLA2_DMPK | Fusion gene ID: 4296 | Hgene | Tgene | Gene symbol | BOLA2 | DMPK | Gene ID | 654483 | 1760 |
| Gene name | bolA family member 2B | DM1 protein kinase | |
| Synonyms | BOLA2 | DM|DM1|DM1PK|DMK|MDPK|MT-PK | |
| Cytomap | 16p11.2 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | myotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9H3K6 | Q09013 | |
| Ensembl transtripts involved in fusion gene | ENST00000330978, | ENST00000291270, ENST00000600757, ENST00000343373, ENST00000447742, ENST00000458663, ENST00000354227, ENST00000595361, | |
| Fusion gene scores | * DoF score | 24 X 31 X 3=2232 | 3 X 3 X 1=9 |
| # samples | 31 | 3 | |
| ** MAII score | log2(31/2232*10)=-2.84799690655495 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: BOLA2 [Title/Abstract] AND DMPK [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 |
| Hgene | BOLA2 | GO:0044571 | [2Fe-2S] cluster assembly | 27519415 |
| Hgene | BOLA2 | GO:0097428 | protein maturation by iron-sulfur cluster transfer | 27519415 |
| Tgene | DMPK | GO:0006468 | protein phosphorylation | 10913253|11287000 |
| Tgene | DMPK | GO:0008016 | regulation of heart contraction | 15598648 |
| Tgene | DMPK | GO:0010657 | muscle cell apoptotic process | 18729234 |
| 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 | BG992769 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| * 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-3CDS | ENST00000330978 | ENST00000291270 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000600757 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000343373 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000447742 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000458663 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000354227 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-intron | ENST00000330978 | ENST00000595361 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
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FusionProtFeatures for BOLA2_DMPK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BOLA2 | DMPK |
| 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}. | Non-receptor serine/threonine protein kinase which isnecessary for the maintenance of skeletal muscle structure andfunction. May play a role in myocyte differentiation and survivalby regulating the integrity of the nuclear envelope and theexpression of muscle-specific genes. May also phosphorylatePPP1R12A and inhibit the myosin phosphatase activity to regulatemyosin phosphorylation. Also critical to the modulation of cardiaccontractility and to the maintenance of proper cardiac conductionactivity probably through the regulation of cellular calciumhomeostasis. Phosphorylates PLN, a regulator of calcium pumps andmay regulate sarcoplasmic reticulum calcium uptake in myocytes.May also phosphorylate FXYD1/PLM which is able to induce chloridecurrents. May also play a role in synaptic plasticity.{ECO:0000269|PubMed:10811636, ECO:0000269|PubMed:10913253,ECO:0000269|PubMed:11287000, ECO:0000269|PubMed:15598648,ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949239}. |
| 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 BOLA2_DMPK |
| 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 BOLA2_DMPK |
| 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 BOLA2_DMPK |
| 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 BOLA2_DMPK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DMPK | C0027125 | Myotonia | 1 | CTD_human;HPO |
| Tgene | DMPK | C0027126 | Myotonic Dystrophy | 1 | CTD_human |
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