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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4304

FusionGeneSummary for BOLA2_MUSK

check button Fusion gene summary
Fusion gene informationFusion gene name: BOLA2_MUSK
Fusion gene ID: 4304
HgeneTgene
Gene symbol

BOLA2

MUSK

Gene ID

654483

4593

Gene namebolA family member 2Bmuscle associated receptor tyrosine kinase
SynonymsBOLA2CMS9|FADS
Cytomap

16p11.2

9q31.3

Type of geneprotein-codingprotein-coding
DescriptionbolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2Bmuscle, skeletal receptor tyrosine-protein kinasemuscle, skeletal, receptor tyrosine kinasemuscle-specific kinase receptormuscle-specific tyrosine-protein kinase receptor
Modification date2018051920180523
UniProtAcc

Q9H3K6

O15146

Ensembl transtripts involved in fusion geneENST00000330978, ENST00000189978, 
ENST00000374448, ENST00000416899, 
ENST00000374440, ENST00000374439, 
ENST00000374438, 
Fusion gene scores* DoF score24 X 31 X 3=22323 X 3 X 1=9
# samples 313
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBOLA2

GO:0044571

[2Fe-2S] cluster assembly

27519415

HgeneBOLA2

GO:0097428

protein maturation by iron-sulfur cluster transfer

27519415

TgeneMUSK

GO:0007528

neuromuscular junction development

25537362


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSTADTCGA-IN-AB1X-01ABOLA2chr16

29455719

-MUSKchr9

113496531

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000330978ENST00000189978BOLA2chr16

29455719

-MUSKchr9

113496531

+
intron-3CDSENST00000330978ENST00000374448BOLA2chr16

29455719

-MUSKchr9

113496531

+
intron-3CDSENST00000330978ENST00000416899BOLA2chr16

29455719

-MUSKchr9

113496531

+
intron-intronENST00000330978ENST00000374440BOLA2chr16

29455719

-MUSKchr9

113496531

+
intron-intronENST00000330978ENST00000374439BOLA2chr16

29455719

-MUSKchr9

113496531

+
intron-intronENST00000330978ENST00000374438BOLA2chr16

29455719

-MUSKchr9

113496531

+

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FusionProtFeatures for BOLA2_MUSK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BOLA2

Q9H3K6

MUSK

O15146

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BOLA2_MUSK


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
BOLA2ARRB2, CUL3, CUL2, MAGOH, EIF4A3, VCAM1, IQCB1, ITGA4, PAN2, NPM1, HIST1H3E, MCM2, CRBN, CDK1, COQ2, COX15, DLD, DLST, PARK7, SOAT1, VDAC1MUSKSYNE1, PDZRN3, HSP90AA1, ADAM30, DNAJC13, RBSN, ILKAP, STYX


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BOLA2_MUSK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BOLA2_MUSK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMUSKC4225368MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY5UNIPROT
TgeneMUSKC0026896Myasthenia Gravis2CTD_human
TgeneMUSKC1276035Pena-Shokeir syndrome type I1HPO;ORPHANET;UNIPROT