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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: 23217

FusionGeneSummary for MYOT_BOLA2

check button Fusion gene summary
Fusion gene informationFusion gene name: MYOT_BOLA2
Fusion gene ID: 23217
HgeneTgene
Gene symbol

MYOT

BOLA2

Gene ID

9499

654483

Gene namemyotilinbolA family member 2B
SynonymsLGMD1|LGMD1A|MFM3|TTID|TTODBOLA2
Cytomap

5q31.2

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionmyotilin57 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 date2018052320180519
UniProtAcc

Q9UBF9

Q9H3K6

Ensembl transtripts involved in fusion geneENST00000239926, ENST00000421631, 
ENST00000509812, ENST00000515645, 
ENST00000330978, 
Fusion gene scores* DoF score6 X 7 X 1=4219 X 26 X 1=494
# samples 928
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneBOLA2

GO:0044571

[2Fe-2S] cluster assembly

27519415

TgeneBOLA2

GO:0097428

protein maturation by iron-sulfur cluster transfer

27519415


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
ChiTaRS3.1DB249980MYOTchr5

137089701

-BOLA2chr16

29874174

-
ChiTaRS3.1AK310988MYOTchr5

137089701

-BOLA2chr16

29874174

-
* 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-intronENST00000239926ENST00000330978MYOTchr5

137089701

-BOLA2chr16

29874174

-
intron-intronENST00000421631ENST00000330978MYOTchr5

137089701

-BOLA2chr16

29874174

-
intron-intronENST00000509812ENST00000330978MYOTchr5

137089701

-BOLA2chr16

29874174

-
intron-intronENST00000515645ENST00000330978MYOTchr5

137089701

-BOLA2chr16

29874174

-

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FusionProtFeatures for MYOT_BOLA2


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

Q9UBF9

BOLA2

Q9H3K6

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}.

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 MYOT_BOLA2


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 MYOT_BOLA2


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


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 MYOT_BOLA2


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 MYOT_BOLA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYOTC1834659Muscular dystrophy, limb-girdle, type 1A3CTD_human;ORPHANET;UNIPROT
HgeneMYOTC0031117Peripheral Neuropathy1CTD_human;HPO
HgeneMYOTC0151786Muscle Weakness1CTD_human
HgeneMYOTC0878544Cardiomyopathies1CTD_human;HPO
HgeneMYOTC1836607MYOTILINOPATHY1CTD_human
HgeneMYOTC1866785Spheroid body myopathy1CTD_human;ORPHANET;UNIPROT
HgeneMYOTC3714934MYOPATHY, MYOFIBRILLAR, 31ORPHANET;UNIPROT