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Fusion gene ID: 4285 |
FusionGeneSummary for BOK_MEOX1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: BOK_MEOX1 | Fusion gene ID: 4285 | Hgene | Tgene | Gene symbol | BOK | MEOX1 | Gene ID | 666 | 4222 |
Gene name | BOK, BCL2 family apoptosis regulator | mesenchyme homeobox 1 | |
Synonyms | BCL2L9|BOKL | KFS2|MOX1 | |
Cytomap | 2q37.3 | 17q21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | bcl-2-related ovarian killer proteinBCL2 related ovarian killerbcl-2-like protein 9bcl2-L-9hBOK | homeobox protein MOX-1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9UMX3 | P50221 | |
Ensembl transtripts involved in fusion gene | ENST00000318407, | ENST00000318579, ENST00000329168, ENST00000549132, ENST00000393661, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 2 X 2 X 2=8 |
# samples | 4 | 2 | |
** MAII score | log2(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 annotation | Transcription 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) |
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 | BOK | GO:0001836 | release of cytochrome c from mitochondria | 27505430 |
Hgene | BOK | GO:0006915 | apoptotic process | 15102863 |
Hgene | BOK | GO:0043065 | positive regulation of apoptotic process | 16302269|27505430 |
Hgene | BOK | GO:1901382 | regulation of chorionic trophoblast cell proliferation | 19942931 |
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-VQ-A8PE-01A | BOK | chr2 | 242501891 | + | MEOX1 | chr17 | 41721028 | - |
* 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 |
In-frame | ENST00000318407 | ENST00000318579 | BOK | chr2 | 242501891 | + | MEOX1 | chr17 | 41721028 | - |
5CDS-intron | ENST00000318407 | ENST00000329168 | BOK | chr2 | 242501891 | + | MEOX1 | chr17 | 41721028 | - |
5CDS-intron | ENST00000318407 | ENST00000549132 | BOK | chr2 | 242501891 | + | MEOX1 | chr17 | 41721028 | - |
5CDS-intron | ENST00000318407 | ENST00000393661 | BOK | chr2 | 242501891 | + | MEOX1 | chr17 | 41721028 | - |
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FusionProtFeatures for BOK_MEOX1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
BOK | MEOX1 |
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}. |
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 |
Hgene | BOK | chr2:242501891 | chr17:41721028 | ENST00000318407 | + | 3 | 5 | 32_44 | 116 | 213 | Motif | Note=BH4 |
Hgene | BOK | chr2:242501891 | chr17:41721028 | ENST00000318407 | + | 3 | 5 | 66_82 | 116 | 213 | Motif | Note=BH3 |
Hgene | BOK | chr2:242501891 | chr17:41721028 | ENST00000318407 | + | 3 | 5 | 70_78 | 116 | 213 | Region | Nuclear export signal |
Tgene | >MEOX1 | chr2:242501891 | chr17:41721028 | ENST00000318579 | - | 0 | 3 | 171_230 | 156 | 255 | DNA binding | Homeobox |
Tgene | >MEOX1 | chr2:242501891 | chr17:41721028 | ENST00000329168 | - | 0 | 2 | 171_230 | -10 | 185 | DNA binding | Homeobox |
Tgene | >MEOX1 | chr2:242501891 | chr17:41721028 | ENST00000393661 | - | 1 | 4 | 171_230 | 41 | 140 | DNA binding | Homeobox |
- 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 |
Hgene | >BOK | chr2:242501891 | chr17:41721028 | ENST00000318407 | + | 3 | 5 | 112_131 | 116 | 213 | Motif | Note=BH1 |
Hgene | >BOK | chr2:242501891 | chr17:41721028 | ENST00000318407 | + | 3 | 5 | 164_178 | 116 | 213 | Motif | Note=BH2 |
Hgene | >BOK | chr2:242501891 | chr17:41721028 | ENST00000318407 | + | 3 | 5 | 189_209 | 116 | 213 | Transmembrane | Helical |
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FusionGeneSequence for BOK_MEOX1 |
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 |
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 |
BOK | BCL2A1, MCL1, NOA1, MYC, TESPA1 | MEOX1 | PAX1, 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 |
- 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 BOK_MEOX1 |
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 BOK_MEOX1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | MEOX1 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |