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Fusion gene ID: 4304 |
FusionGeneSummary for BOLA2_MUSK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BOLA2_MUSK | Fusion gene ID: 4304 | Hgene | Tgene | Gene symbol | BOLA2 | MUSK | Gene ID | 654483 | 4593 |
| Gene name | bolA family member 2B | muscle associated receptor tyrosine kinase | |
| Synonyms | BOLA2 | CMS9|FADS | |
| Cytomap | 16p11.2 | 9q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | muscle, skeletal receptor tyrosine-protein kinasemuscle, skeletal, receptor tyrosine kinasemuscle-specific kinase receptormuscle-specific tyrosine-protein kinase receptor | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9H3K6 | O15146 | |
| Ensembl transtripts involved in fusion gene | ENST00000330978, | ENST00000189978, ENST00000374448, ENST00000416899, ENST00000374440, ENST00000374439, ENST00000374438, | |
| 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 MUSK [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 | MUSK | GO:0007528 | neuromuscular junction development | 25537362 |
| 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 |
| TCGA | LD | STAD | TCGA-IN-AB1X-01A | BOLA2 | chr16 | 29455719 | - | MUSK | chr9 | 113496531 | + |
| * 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 | ENST00000189978 | BOLA2 | chr16 | 29455719 | - | MUSK | chr9 | 113496531 | + |
| intron-3CDS | ENST00000330978 | ENST00000374448 | BOLA2 | chr16 | 29455719 | - | MUSK | chr9 | 113496531 | + |
| intron-3CDS | ENST00000330978 | ENST00000416899 | BOLA2 | chr16 | 29455719 | - | MUSK | chr9 | 113496531 | + |
| intron-intron | ENST00000330978 | ENST00000374440 | BOLA2 | chr16 | 29455719 | - | MUSK | chr9 | 113496531 | + |
| intron-intron | ENST00000330978 | ENST00000374439 | BOLA2 | chr16 | 29455719 | - | MUSK | chr9 | 113496531 | + |
| intron-intron | ENST00000330978 | ENST00000374438 | BOLA2 | chr16 | 29455719 | - | MUSK | chr9 | 113496531 | + |
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FusionProtFeatures for BOLA2_MUSK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BOLA2 | MUSK |
| 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}. | Receptor tyrosine kinase which plays a central role inthe formation and the maintenance of the neuromuscular junction(NMJ), the synapse between the motor neuron and the skeletalmuscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSKsignaling complex induces phosphorylation and activation of MUSK,the kinase of the complex. The activation of MUSK in myotubesregulates the formation of NMJs through the regulation ofdifferent processes including the specific expression of genes insubsynaptic nuclei, the reorganization of the actin cytoskeletonand the clustering of the acetylcholine receptors (AChR) in thepostsynaptic membrane. May regulate AChR phosphorylation andclustering through activation of ABL1 and Src family kinases whichin turn regulate MUSK. DVL1 and PAK1 that form a ternary complexwith MUSK are also important for MUSK-dependent regulation of AChRclustering. May positively regulate Rho family GTPases throughFNTA. Mediates the phosphorylation of FNTA which promotesprenylation, recruitment to membranes and activation of RAC1 aregulator of the actin cytoskeleton and of gene expression. Othereffectors of the MUSK signaling include DNAJA3 which functionsdownstream of MUSK. May also play a role within the centralnervous system by mediating cholinergic responses, synapticplasticity and memory formation (By similarity). {ECO:0000250,ECO:0000269|PubMed:25537362}. |
| 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_MUSK |
| 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_MUSK |
| 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 |
| BOLA2 | ARRB2, CUL3, CUL2, MAGOH, EIF4A3, VCAM1, IQCB1, ITGA4, PAN2, NPM1, HIST1H3E, MCM2, CRBN, CDK1, COQ2, COX15, DLD, DLST, PARK7, SOAT1, VDAC1 | MUSK | SYNE1, PDZRN3, HSP90AA1, ADAM30, DNAJC13, RBSN, ILKAP, STYX |
| - 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_MUSK |
| 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_MUSK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MUSK | C4225368 | MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | 5 | UNIPROT |
| Tgene | MUSK | C0026896 | Myasthenia Gravis | 2 | CTD_human |
| Tgene | MUSK | C1276035 | Pena-Shokeir syndrome type I | 1 | HPO;ORPHANET;UNIPROT |
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