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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BOK-MYEOV2 (FusionGDB2 ID:HG666TG150678)

Fusion Gene Summary for BOK-MYEOV2

check button Fusion gene summary
Fusion gene informationFusion gene name: BOK-MYEOV2
Fusion gene ID: hg666tg150678
HgeneTgene
Gene symbol

BOK

MYEOV2

Gene ID

666

150678

Gene nameBCL2 family apoptosis regulator BOKCOP9 signalosome subunit 9
SynonymsBCL2L9|BOKLCSNAP|MYEOV2
Cytomap('BOK','BOK')('COPS9','MYEOV2')

2q37.3

2q37.3

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-related ovarian killer proteinBCL2 related ovarian killerBOK, BCL2 family apoptosis regulatorbcl-2-like protein 9bcl2-L-9hBOKCOP9 signalosome complex subunit 9CSN acidic proteinhelicase/primase complex proteinmyeloma overexpressed 2myeloma-overexpressed gene 2 protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000318407, 
Fusion gene scores* DoF score3 X 2 X 2=122 X 2 X 1=4
# samples 42
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: BOK [Title/Abstract] AND MYEOV2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBOK(242501891)-MYEOV2(241066357), # samples:2
BOK(242501891)-COPS9(241066357), # samples:1
Anticipated loss of major functional domain due to fusion event.BOK-MYEOV2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BOK-MYEOV2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BOK-MYEOV2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BOK-MYEOV2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneBOK

GO:0001836

release of cytochrome c from mitochondria

27505430

HgeneBOK

GO:0006915

apoptotic process

15102863

HgeneBOK

GO:0043065

positive regulation of apoptotic process

16302269|27505430

HgeneBOK

GO:1901382

regulation of chorionic trophoblast cell proliferation

19942931

TgeneMYEOV2

GO:0034644

cellular response to UV

26456823


check buttonFusion gene breakpoints across BOK (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across MYEOV2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A8-A084-01ABOKchr2

242501891

+COPS9chr2

241066357

-
ChimerDB4BRCATCGA-A8-A084-01ABOKchr2

242501891

-MYEOV2chr2

241066357

-
ChimerDB4BRCATCGA-A8-A084-01ABOKchr2

242501891

+MYEOV2chr2

241066357

-


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Fusion Gene ORF analysis for BOK-MYEOV2

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
5CDS-intronENST00000318407ENST00000489698BOKchr2

242501891

+MYEOV2chr2

241066357

-
5CDS-intronENST00000318407ENST00000607357BOKchr2

242501891

+MYEOV2chr2

241066357

-
In-frameENST00000318407ENST00000307266BOKchr2

242501891

+MYEOV2chr2

241066357

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000318407BOKchr2242501891+ENST00000307266MYEOV2chr2241066357-10296518442281

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000318407ENST00000307266BOKchr2242501891+MYEOV2chr2241066357-0.374772040.6252279

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Fusion Genomic Features for BOK-MYEOV2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for BOK-MYEOV2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:242501891/chr2:241066357)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneBOKchr2:242501891chr2:241066357ENST00000318407+3532_44116213.0MotifNote=BH4
HgeneBOKchr2:242501891chr2:241066357ENST00000318407+3566_82116213.0MotifNote=BH3
HgeneBOKchr2:242501891chr2:241066357ENST00000318407+3570_78116213.0RegionNuclear export signal
TgeneMYEOV2chr2:242501891chr2:241066357ENST000006073570352_55058.0Compositional biasNote=Poly-Asp

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBOKchr2:242501891chr2:241066357ENST00000318407+35112_131116213.0MotifNote=BH1
HgeneBOKchr2:242501891chr2:241066357ENST00000318407+35164_178116213.0MotifNote=BH2
HgeneBOKchr2:242501891chr2:241066357ENST00000318407+35189_209116213.0TransmembraneHelical
TgeneMYEOV2chr2:242501891chr2:241066357ENST000003072663552_55127253.0Compositional biasNote=Poly-Asp


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Fusion Gene Sequence for BOK-MYEOV2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>10009_10009_1_BOK-MYEOV2_BOK_chr2_242501891_ENST00000318407_MYEOV2_chr2_241066357_ENST00000307266_length(transcript)=1029nt_BP=651nt
AGAAGGCCAAGCCCCAAGCCCAGCCTCTCGCCAGCTGGGAGTCGCGCGCTGCCCACCTCGCTGCCCAGGCCCCCGACGCCGCGGCAGGAG
CCCCCCAAGAGCGCGGGAAGCCCCGTGGACCTGGCGCTCCCGGCTCGGGCGTGGACGGGGCGGGCGCCGGGGCGGGGCGCGCGTCCTCGC
GGGTCTGAATGGAAGGGTCGAGGTCGTCGTCGGCGGCGAGCAGATCCTGAAGCCAGAACTCCACCCCGGCGCCCGCGCCATGCGGCGGGA
GAGGTGCGGCGCCCCCCACCCGCGTCGCCGCCATGGAGGTGCTGCGGCGCTCCTCGGTCTTCGCCGCCGAGATCATGGACGCCTTTGACC
GCTCGCCCACAGACAAGGAGCTGGTGGCCCAGGCCAAGGCGCTGGGCCGGGAGTACGTGCACGCGCGGCTGCTGCGCGCCGGCCTCTCCT
GGAGCGCGCCCGAGCGTGCCGCGCCGGTCCCGGGACGCCTGGCTGAGGTGTGCGCGGTGCTGCTGCGCCTGGGCGATGAGCTGGAGATGA
TCCGGCCCAGCGTCTACCGCAACGTGGCGCGTCAGCTGCACATCTCCCTGCAGTCTGAGCCTGTGGTGACCGATGCGTTCCTGGCCGTGG
CTGGCCACATCTTCTCTGCAGAGATGTGAACTGAACGGGAGAGAAGTGGCAGCTTTGGACAGAGCGTTTGGGAGCACAGGCCATGGGCAG
GGGGCGGAGGCGCTAATGTTTACCAGATGCAGAGAACATCCGCTGTGTGGCACCAACAAAGCAACAAGTGAGGGGAAAATGGGCACAGGA
CGCTTAAGAAACAGTTTACGGAAGAACCAATCCAAGTGGCTGGGAAGTTATCTAGAGGTGCTCAGAACCACAAGAAGCAGGCGAGAGGTC
AGCGAAGACAGCACAATATCAGTTTCTACTCACTGGAGGGGTAAATGTTTTAAGAGTGATGAAACACCATCCGTTGCTGGTGGAGAAGAA

>10009_10009_1_BOK-MYEOV2_BOK_chr2_242501891_ENST00000318407_MYEOV2_chr2_241066357_ENST00000307266_length(amino acids)=281AA_BP=1
MDWFFRKLFLKRPVPIFPSLVALLVPHSGCSLHLVNISASAPCPWPVLPNALSKAATSLPFSSHLCREDVASHGQERIGHHRLRLQGDVQ
LTRHVAVDAGPDHLQLIAQAQQHRAHLSQASRDRRGTLGRAPGEAGAQQPRVHVLPAQRLGLGHQLLVCGRAVKGVHDLGGEDRGAPQHL
HGGDAGGGRRTSPAAWRGRRGGVLASGSARRRRRPRPFHSDPRGRAPRPGARPVHARAGSARSTGLPALLGGSCRGVGGLGSEVGSARLP

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Fusion Gene PPI Analysis for BOK-MYEOV2


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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Related Drugs for BOK-MYEOV2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for BOK-MYEOV2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource