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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: 4285

FusionGeneSummary for BOK_MEOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: BOK_MEOX1
Fusion gene ID: 4285
HgeneTgene
Gene symbol

BOK

MEOX1

Gene ID

666

4222

Gene nameBOK, BCL2 family apoptosis regulatormesenchyme homeobox 1
SynonymsBCL2L9|BOKLKFS2|MOX1
Cytomap

2q37.3

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-related ovarian killer proteinBCL2 related ovarian killerbcl-2-like protein 9bcl2-L-9hBOKhomeobox protein MOX-1
Modification date2018052320180523
UniProtAcc

Q9UMX3

P50221

Ensembl transtripts involved in fusion geneENST00000318407, ENST00000318579, 
ENST00000329168, ENST00000549132, 
ENST00000393661, 
Fusion gene scores* DoF score4 X 3 X 3=362 X 2 X 2=8
# samples 42
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: BOK [Title/Abstract] AND MEOX1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTranscription factor involved fusion gene, inframe and retained DNA-binding domain.
* 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


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-VQ-A8PE-01ABOKchr2

242501891

+MEOX1chr17

41721028

-
* 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
In-frameENST00000318407ENST00000318579BOKchr2

242501891

+MEOX1chr17

41721028

-
5CDS-intronENST00000318407ENST00000329168BOKchr2

242501891

+MEOX1chr17

41721028

-
5CDS-intronENST00000318407ENST00000549132BOKchr2

242501891

+MEOX1chr17

41721028

-
5CDS-intronENST00000318407ENST00000393661BOKchr2

242501891

+MEOX1chr17

41721028

-

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FusionProtFeatures for BOK_MEOX1


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

Q9UMX3

MEOX1

P50221

Isoform 1: Apoptosis regulator that functions throughdifferent apoptotic signaling pathways (PubMed:27076518,PubMed:15102863, PubMed:20673843). Plays a roles as pro-apoptoticprotein that positively regulates intrinsic apoptotic process in aBAX- and BAK1-dependent manner or in a BAX- and BAK1-independentmanner (PubMed:27076518, PubMed:15102863). In response toendoplasmic reticulum stress promotes mitochondrial apoptosisthrough downstream BAX/BAK1 activation and positive regulation ofPERK-mediated unfolded protein response (By similarity). Activatesapoptosis independently of heterodimerization with survival-promoting BCL2 and BCL2L1 through induction of mitochondrial outermembrane permeabilization, in a BAX- and BAK1-independent manner,in response to inhibition of ERAD-proteasome degradation system,resulting in cytochrome c release (PubMed:27076518). In responseto DNA damage, mediates intrinsic apoptotic process in a TP53-dependent manner (PubMed:15102863). Plays a role in granulosa cellapoptosis by CASP3 activation (PubMed:20673843). Plays a roles asanti-apoptotic protein during neuronal apoptotic process, bynegatively regulating poly ADP-ribose polymerase-dependent celldeath through regulation of neuronal calcium homeostasis andmitochondrial bioenergetics in response to NMDA excitation (Bysimilarity). In addition to its role in apoptosis, may regulatetrophoblast cell proliferation during the early stages ofplacental development, by acting on G1/S transition throughregulation of CCNE1 expression (PubMed:19942931). May also play arole as an inducer of autophagy by disrupting interaction betweenMCL1 and BECN1 (PubMed:24113155). {ECO:0000250|UniProtKB:O35425,ECO:0000269|PubMed:15102863, ECO:0000269|PubMed:19942931,ECO:0000269|PubMed:20673843, ECO:0000269|PubMed:24113155,ECO:0000269|PubMed:27076518}. Isoform 2: Pro-apoptotic molecule exerting its functionthrough the mitochondrial pathway. {ECO:0000269|PubMed:15775999}. Mesodermal transcription factor that plays a key role insomitogenesis and is specifically required for sclerotomedevelopment. Required for maintenance of the sclerotome polarityand formation of the cranio-cervical joints (PubMed:23290072,PubMed:24073994). Binds specifically to the promoter of targetgenes and regulates their expression. Activates expression ofNKX3-2 in the sclerotome. Activates expression of CDKN1A andCDKN2A in endothelial cells, acting as a regulator of vascularcell proliferation. While it activates CDKN1A in a DNA-dependentmanner, it activates CDKN2A in a DNA-independent manner. Requiredfor hematopoietic stem cell (HSCs) induction via its role insomitogenesis: specification of HSCs occurs via the deployment ofa specific endothelial precursor population, which arises within asub-compartment of the somite named endotome.{ECO:0000250|UniProtKB:F1Q4R9, ECO:0000250|UniProtKB:P32442,ECO:0000269|PubMed:23290072, ECO:0000269|PubMed:24073994}.

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
HgeneBOKchr2:242501891chr17:41721028ENST00000318407+3532_44116213MotifNote=BH4
HgeneBOKchr2:242501891chr17:41721028ENST00000318407+3566_82116213MotifNote=BH3
HgeneBOKchr2:242501891chr17:41721028ENST00000318407+3570_78116213RegionNuclear export signal
TgeneMEOX1chr2:242501891chr17:41721028ENST00000318579-03171_230156255DNA bindingHomeobox
TgeneMEOX1chr2:242501891chr17:41721028ENST00000329168-02171_230-10185DNA bindingHomeobox
TgeneMEOX1chr2:242501891chr17:41721028ENST00000393661-14171_23041140DNA bindingHomeobox

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBOKchr2:242501891chr17:41721028ENST00000318407+35112_131116213MotifNote=BH1
HgeneBOKchr2:242501891chr17:41721028ENST00000318407+35164_178116213MotifNote=BH2
HgeneBOKchr2:242501891chr17:41721028ENST00000318407+35189_209116213TransmembraneHelical


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FusionGeneSequence for BOK_MEOX1


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.
>In-frame_BOK_ENST00000318407_chr2_242501891_+_MEOX1_ENST00000318579_chr17_41721028_-_215aa
MEVLRRSSVFAAEIMDAFDRSPTDKELVAQAKALGREYVHARLLRAGLSWSAPERAAPVPGRLAEVCAVLLRLGDELEMIRPSVYRNVAR
QLHISLQSEPVVTDAFLAVAGHIFSADNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_BOK_ENST00000318407_chr2_242501891_+_MEOX1_ENST00000318579_chr17_41721028_-_645nt
ATGGAGGTGCTGCGGCGCTCCTCGGTCTTCGCCGCCGAGATCATGGACGCCTTTGACCGCTCGCCCACAGACAAGGAGCTGGTGGCCCAG
GCCAAGGCGCTGGGCCGGGAGTACGTGCACGCGCGGCTGCTGCGCGCCGGCCTCTCCTGGAGCGCGCCCGAGCGTGCCGCGCCGGTCCCG
GGACGCCTGGCTGAGGTGTGCGCGGTGCTGCTGCGCCTGGGCGATGAGCTGGAGATGATCCGGCCCAGCGTCTACCGCAACGTGGCGCGT
CAGCTGCACATCTCCCTGCAGTCTGAGCCTGTGGTGACCGATGCGTTCCTGGCCGTGGCTGGCCACATCTTCTCTGCAGACAACCAGGAG
AACAGAGGGAAGCCGGAGGGCAGCAGCAAAGCCCGCAAGGAGAGGACGGCCTTCACCAAGGAGCAGCTGCGAGAGCTGGAGGCAGAGTTT
GCCCATCATAACTACCTGACTCGGCTCCGCAGATATGAGATTGCGGTAAACCTGGACCTCTCTGAGCGCCAGGTCAAAGTGTGGTTCCAG
AACCGAAGGATGAAGTGGAAGCGTGTGAAGGGAGGTCAGCCCATCTCCCCCAATGGGCAGGACCCTGAGGATGGGGACTCCACAGCCTCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_BOK_ENST00000318407_chr2_242501891_+_MEOX1_ENST00000318579_chr17_41721028_-_2469nt
AGAAGGCCAAGCCCCAAGCCCAGCCTCTCGCCAGCTGGGAGTCGCGCGCTGCCCACCTCGCTGCCCAGGCCCCCGACGCCGCGGCAGGAG
CCCCCCAAGAGCGCGGGAAGCCCCGTGGACCTGGCGCTCCCGGCTCGGGCGTGGACGGGGCGGGCGCCGGGGCGGGGCGCGCGTCCTCGC
GGGTCTGAATGGAAGGGTCGAGGTCGTCGTCGGCGGCGAGCAGATCCTGAAGCCAGAACTCCACCCCGGCGCCCGCGCCATGCGGCGGGA
GAGGTGCGGCGCCCCCCACCCGCGTCGCCGCCATGGAGGTGCTGCGGCGCTCCTCGGTCTTCGCCGCCGAGATCATGGACGCCTTTGACC
GCTCGCCCACAGACAAGGAGCTGGTGGCCCAGGCCAAGGCGCTGGGCCGGGAGTACGTGCACGCGCGGCTGCTGCGCGCCGGCCTCTCCT
GGAGCGCGCCCGAGCGTGCCGCGCCGGTCCCGGGACGCCTGGCTGAGGTGTGCGCGGTGCTGCTGCGCCTGGGCGATGAGCTGGAGATGA
TCCGGCCCAGCGTCTACCGCAACGTGGCGCGTCAGCTGCACATCTCCCTGCAGTCTGAGCCTGTGGTGACCGATGCGTTCCTGGCCGTGG
CTGGCCACATCTTCTCTGCAGACAACCAGGAGAACAGAGGGAAGCCGGAGGGCAGCAGCAAAGCCCGCAAGGAGAGGACGGCCTTCACCA
AGGAGCAGCTGCGAGAGCTGGAGGCAGAGTTTGCCCATCATAACTACCTGACTCGGCTCCGCAGATATGAGATTGCGGTAAACCTGGACC
TCTCTGAGCGCCAGGTCAAAGTGTGGTTCCAGAACCGAAGGATGAAGTGGAAGCGTGTGAAGGGAGGTCAGCCCATCTCCCCCAATGGGC
AGGACCCTGAGGATGGGGACTCCACAGCCTCTCCAAGTTCAGAGTGAGATTCTGCATGGAGGAAAAATGACTAAGGACTGAGCCCCCTAC
CCAACTACCCCCACCCCAATCCCACCTTCACCCTCTTCCTTCCCCAGCCAGGGCAGCCTCTCCACATCTTTCCCTGACTCTTGGATATGA
AACTGCCCAGCATTCCTGGGAGTCTTAGGATTTTCTAGGAAGTTCTGTCCAGCCTCTTAGCAGCCTCTTCCCTAGGGCCTTTGCTCCCAC
ACTCTCATGGAATCAGACAGAGATCCTACCGGGCCGGATGAATCTGGAAACAGCTTCAGAGATACTGCTTCTCAGCGTCTCTTGGCTGCC
ACCCATGCCTCCTCCTACCGCTGTTCTCCTAGGTCAGCCAGGCCTCCTCCTGGTCTGGACACCACCTGGCCTGGTGGGAGAGGAGCTTTG
GAACCAGCTGGCGACTCGGAAAGTAAATGCTTCAAAAGGAAGGAAATGACAGAGACACACGCCCTTGCCCACCTTCCTCTGTAGGCTGCA
CATCTGAGGCTTTGGGGCCCCTTAGTTGTCCCGAAACCCCAAGAAAAATCAGAATGAGGAGAGTCAAGGACAGCAACTCAGCTGCTGCAA
GCCAGAAACACATCCCTGTCTCCAAATTTGTTGGCTAAGTGGAGACACTTCTGAGAACTGACTAGAGAAGACAGAAAAATAGCCCGATGT
AGGTTTCGGTGTCCCCATATAGGCCCGTCCACACAGGCTTGACTGGGTGGACAAGAATGAACCCATGACAGCACCTGCTGCTTCAAAATC
AAAATCAATTTAGGGATACAGCAGGGGCTGTTGGGCTGTGCTCCAGAGAAAAGGAGCAGCTACTCCTTTTAAATCCACGATTTCTGGATT
GAAAACCTGTCCAGATGCTGAGTTGTTGGGCTGAACAACTAGGAGCTGAAAACAACGTAGAGGCTGGAAAGTGTCCCCTGCATTCTGGAG
GGGAGGGGAGATAATAAGGAGGGCTGCTGGGTGAGGGCCTGGAGATGTGGAACCCTGGAGTGGAAGGTTCTCCAGTGACAGTGTCCTGTG
ACTGCAAAAGGGGACAAGAAAATCCCTCTTCCTCCATGGGATGGATTTAAGCTCTTGCTGTGTGTTCTACAAATGCTGTTATTGTGGGAG
GAAATGCTAGGTTTTTGTGTGTGGACTGCCCAGACCTCAGCCAGGTCTTCTGGAGATGACATTTGAGGACTGATGGCCAAAGAGCATGGG
GGACTGAAGCCCTGGCTGCCTCAGCGCTCTGTCTCCCAACACCAGCTGGTGTTGCAGAGGGAGGTCAACGTGAGTTTGGATCTCTTGTAC
GCAGATGTAATCATTCACATGTAAAAATAACCCCACCTCCCCACCCCAAAAAGGGCAAGAGCTGTGGAAAATGATTGCCAAATGAGATGG
CTGGTTAGAGCATGATTTTTTCTAAAGCATACTTCATATATTTTCTTAAGATTACATCAAGCTAATTGTGCGAGCTCAATTCACTTTGTA


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FusionGenePPI for BOK_MEOX1


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
BOKBCL2A1, MCL1, NOA1, MYC, TESPA1MEOX1PAX1, PAX3, APP, CYFIP1, FMR1, MVP, PARK2, ALOX5, CKS1B, DCX, MID1, MAPK9, RANBP3, CIAO1, MORF4L1, APPL1, SYT17, QRICH1, UBE2R2, NAGK, CIB3, UBXN2B, PAGE3, CWF19L2, TCEANC, TXLNA, NEIL2, NXF1, NIF3L1, MEOX2, CHMP1A, TP53RK, LMNA


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 BOK_MEOX1


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 BOK_MEOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMEOX1C0162820Dermatitis, Allergic Contact1CTD_human