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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BORA-VCP (FusionGDB2 ID:HG79866TG7415) |
Fusion Gene Summary for BORA-VCP |
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Fusion gene information | Fusion gene name: BORA-VCP | Fusion gene ID: hg79866tg7415 | Hgene | Tgene | Gene symbol | BORA | VCP | Gene ID | 79866 | 7415 |
Gene name | BORA aurora kinase A activator | valosin containing protein | |
Synonyms | C13orf34 | CDC48|TERA|p97 | |
Cytomap | ('BORA')('VCP') 13q21.33 | 9p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | protein aurora borealis | transitional endoplasmic reticulum ATPase15S Mg(2+)-ATPase p97 subunitTER ATPase | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000464754, ENST00000377815, ENST00000390667, | ||
Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 11 X 13 X 3=429 |
# samples | 5 | 14 | |
** MAII score | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(14/429*10)=-1.61555082055458 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BORA [Title/Abstract] AND VCP [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BORA(73303232)-VCP(35064282), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | BORA-VCP 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. BORA-VCP 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. BORA-VCP 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. BORA-VCP 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. BORA-VCP seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | VCP | GO:0006302 | double-strand break repair | 10855792|22120668 |
Tgene | VCP | GO:0006974 | cellular response to DNA damage stimulus | 16140914|22120668|23042605 |
Tgene | VCP | GO:0016567 | protein ubiquitination | 22120668 |
Tgene | VCP | GO:0030433 | ubiquitin-dependent ERAD pathway | 17872946 |
Tgene | VCP | GO:0030970 | retrograde protein transport, ER to cytosol | 15215856 |
Tgene | VCP | GO:0031334 | positive regulation of protein complex assembly | 18775313 |
Tgene | VCP | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 9452483 |
Tgene | VCP | GO:0036503 | ERAD pathway | 25088257 |
Tgene | VCP | GO:0045732 | positive regulation of protein catabolic process | 11483959|18775313 |
Tgene | VCP | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 28689657 |
Tgene | VCP | GO:1903006 | positive regulation of protein K63-linked deubiquitination | 22970133 |
Tgene | VCP | GO:1903007 | positive regulation of Lys63-specific deubiquitinase activity | 22970133 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for BORA-VCP |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000390667 | ENST00000358901 | BORA | chr13 | 73303232 | + | VCP | chr9 | 35064282 | - | 0.004462659 | 0.9955374 |
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Fusion Genomic Features for BORA-VCP |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BORA-VCP |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:73303232/chr9:35064282) - 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. |
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Hgene | Tgene |
. | . |
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}. |
![]() * 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 |
Tgene | VCP | chr13:73303232 | chr9:35064282 | ENST00000358901 | 4 | 17 | 802_806 | 192 | 807.0 | Motif | PIM motif | |
Tgene | VCP | chr13:73303232 | chr9:35064282 | ENST00000358901 | 4 | 17 | 247_253 | 192 | 807.0 | Nucleotide binding | ATP 1 | |
Tgene | VCP | chr13:73303232 | chr9:35064282 | ENST00000358901 | 4 | 17 | 521_526 | 192 | 807.0 | Nucleotide binding | ATP 2 |
- 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 | BORA | chr13:73303232 | chr9:35064282 | ENST00000390667 | + | 2 | 12 | 188_278 | 51 | 560.0 | Compositional bias | Note=Ser-rich |
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Fusion Gene Sequence for BORA-VCP |
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>10040_10040_1_BORA-VCP_BORA_chr13_73303232_ENST00000390667_VCP_chr9_35064282_ENST00000358901_length(transcript)=3148nt_BP=250nt GAGTCTATGCCTGTCGTGGAAGCTGGCCTGGCCCCCGGAGCTCCCTGGAGTCGGTACTGGGGGCTTCGTTTTGTACGCACCGTTTTCTCT CTGTGCTATGGGAGATGTCAAGGAATCAAAGATGCAAATAACACCAGAAACTCCAGGAAGGATCCCTGTTTTAAATCCTTTTGAAAGTCC TAGTGATTATTCTAATCTCCATGAACAAACTCTCGCCAGTCCTTCTGTTTTTAAATCAACAAAATTACCAGATGAGGAAGAGTCCTTGAA TGAAGTAGGGTATGATGACATTGGTGGCTGCAGGAAGCAGCTAGCTCAGATAAAGGAGATGGTGGAACTGCCCCTGAGACATCCTGCCCT CTTTAAGGCAATTGGTGTGAAGCCTCCTAGAGGAATCCTGCTTTACGGACCTCCTGGAACAGGAAAGACCCTGATTGCTCGAGCTGTAGC AAATGAGACTGGAGCCTTCTTCTTCTTGATCAATGGTCCTGAGATCATGAGCAAATTGGCTGGTGAGTCTGAGAGCAACCTTCGTAAAGC CTTTGAGGAGGCTGAGAAGAATGCTCCTGCCATCATCTTCATTGATGAGCTAGATGCCATCGCTCCCAAAAGAGAGAAAACTCATGGCGA GGTGGAGCGGCGCATTGTATCACAGTTGTTGACCCTCATGGATGGCCTAAAGCAGAGGGCACATGTGATTGTTATGGCAGCAACCAACAG ACCCAACAGCATTGACCCAGCTCTACGGCGATTTGGTCGCTTTGACAGGGAGGTAGATATTGGAATTCCTGATGCTACAGGACGCTTAGA GATTCTTCAGATCCATACCAAGAACATGAAGCTGGCAGATGATGTGGACCTGGAACAGGTAGCCAATGAGACTCACGGGCATGTGGGTGC TGACTTAGCAGCCCTGTGCTCAGAGGCTGCTCTGCAAGCCATCCGCAAGAAGATGGATCTCATTGACCTAGAGGATGAGACCATTGATGC CGAGGTCATGAACTCTCTAGCAGTTACTATGGATGACTTCCGGTGGGCCTTGAGCCAGAGTAACCCATCAGCACTGCGGGAAACCGTGGT AGAGGTGCCACAGGTAACCTGGGAAGACATCGGGGGCCTAGAGGATGTCAAACGTGAGCTACAGGAGCTGGTCCAGTATCCTGTGGAGCA CCCAGACAAATTCCTGAAGTTTGGCATGACACCTTCCAAGGGAGTTCTGTTCTATGGACCTCCTGGCTGTGGGAAAACTTTGTTGGCCAA AGCCATTGCTAATGAATGCCAGGCCAACTTCATCTCCATCAAGGGTCCTGAGCTGCTCACCATGTGGTTTGGGGAGTCTGAGGCCAATGT CAGAGAAATCTTTGACAAGGCCCGCCAAGCTGCCCCCTGTGTGCTATTCTTTGATGAGCTGGATTCGATTGCCAAGGCTCGTGGAGGTAA CATTGGAGATGGTGGTGGGGCTGCTGACCGAGTCATCAACCAGATCCTGACAGAAATGGATGGCATGTCCACAAAAAAAAATGTGTTCAT CATTGGCGCTACCAACCGGCCTGACATCATTGATCCTGCCATCCTCAGACCTGGCCGTCTTGATCAGCTCATCTACATCCCACTTCCTGA TGAGAAGTCCCGTGTTGCCATCCTCAAGGCTAACCTGCGCAAGTCCCCAGTTGCCAAGGATGTGGACTTGGAGTTCCTGGCTAAAATGAC TAATGGCTTCTCTGGAGCTGACCTGACAGAGATTTGCCAGCGTGCTTGCAAGCTGGCCATCCGTGAATCCATCGAGAGTGAGATTAGGCG AGAACGAGAGAGGCAGACAAACCCATCAGCCATGGAGGTAGAAGAGGATGATCCAGTGCCTGAGATCCGTCGAGATCACTTTGAAGAAGC CATGCGCTTTGCGCGCCGTTCTGTCAGTGACAATGACATTCGGAAGTATGAGATGTTTGCCCAGACCCTTCAGCAGAGTCGGGGCTTTGG CAGCTTCAGATTCCCTTCAGGGAACCAGGGTGGAGCTGGCCCCAGTCAGGGCAGTGGAGGCGGCACAGGTGGCAGTGTATACACAGAAGA CAATGATGATGACCTGTATGGCTAAGTGGTGGTGGCCAGCGTGCAGTGAGCTGGCCTGCCTGGACCTTGTTCCCTGGGGGTGGGGGCGCT TGCCCAGGAGAGGGACCAGGGGTGCGCCCACAGCCTGCTCCATTCTCCAGTCTGAACAGTTCAGCTACAGTCTGACTCTGGACAGGGGGT TTCTGTTGCAAAAATACAAAACAAAAGCGATAAAATAAAAGCGATTTTCATTTGGTAGGCGGAGAGTGAATTACCAACAGGGAATTGGGC CTTGGGCCTATGCCATTTCTGTTGTAGTTTGGGGCAGTGCAGGGGACCTGTGTGGGGTGTGAACCAAGGCACTACTGCCACCTGCCACAG TAAAGCATCTGCACTTGACTCAATGCTGCCCGAGCCCTCCCTTCCCCCTATCCAACCTGGGTAGGTGGGTAGGGGCCACAGTTGCTGGAT GTTTATATAGAGAGTAGGTTGATTTATTTTACATGCTTTTGAGTTAATGTTGGAAAACTAATCACAAGCAGTTTCTAAACCAAAAAATGA CATGTTGTAAAAGGACAATAAACGTTGGGTCAAAATGGAGCCTGAGTCCTGGGCCCTGTGCCTGCTTCTTTTCCTGGGAACAGCCTTGGG CTACCCACCACTCCCAAGGCATTCTTCCAAATGTGAAATCCTGGAAGTAAGATTGCACCTTCTTCCTCTCCTGATCAACATCGGTATGAT GTCTCCTGTTGCCTCACCCTTTGTCTGCAGTATCACTGGATAGGACTGGTGGAAAGGGAGCAGCCTGACAGAGCTCCAAATGTGGAGAAT ATGGCATCCCTCCACCTATATTTGATGTGGACGGTAAGGCTAGGCCTGCAGGATCCCTTATCCTGACCAAAGACTGTGTTGGGGTGCCAT TTGAAAATCGCAGGGTTGCAAAAGAATACAATCTTACTTGCAGGTGGATATTCTCTATACTCTCTTTTAATGCATCTAAAAATCCCAAAC >10040_10040_1_BORA-VCP_BORA_chr13_73303232_ENST00000390667_VCP_chr9_35064282_ENST00000358901_length(amino acids)=694AA_BP=80 MSWKLAWPPELPGVGTGGFVLYAPFSLCAMGDVKESKMQITPETPGRIPVLNPFESPSDYSNLHEQTLASPSVFKSTKLPDEEESLNEVG YDDIGGCRKQLAQIKEMVELPLRHPALFKAIGVKPPRGILLYGPPGTGKTLIARAVANETGAFFFLINGPEIMSKLAGESESNLRKAFEE AEKNAPAIIFIDELDAIAPKREKTHGEVERRIVSQLLTLMDGLKQRAHVIVMAATNRPNSIDPALRRFGRFDREVDIGIPDATGRLEILQ IHTKNMKLADDVDLEQVANETHGHVGADLAALCSEAALQAIRKKMDLIDLEDETIDAEVMNSLAVTMDDFRWALSQSNPSALRETVVEVP QVTWEDIGGLEDVKRELQELVQYPVEHPDKFLKFGMTPSKGVLFYGPPGCGKTLLAKAIANECQANFISIKGPELLTMWFGESEANVREI FDKARQAAPCVLFFDELDSIAKARGGNIGDGGGAADRVINQILTEMDGMSTKKNVFIIGATNRPDIIDPAILRPGRLDQLIYIPLPDEKS RVAILKANLRKSPVAKDVDLEFLAKMTNGFSGADLTEICQRACKLAIRESIESEIRRERERQTNPSAMEVEEDDPVPEIRRDHFEEAMRF -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for BORA-VCP |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | VCP | chr13:73303232 | chr9:35064282 | ENST00000358901 | 4 | 17 | 797_806 | 192.0 | 807.0 | UBXN6 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BORA-VCP |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BORA-VCP |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C4551951 | Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 | 17 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C3151403 | AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C4225244 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C4225578 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y | 2 | GENOMICS_ENGLAND | |
Tgene | C0002736 | Amyotrophic Lateral Sclerosis | 1 | ORPHANET | |
Tgene | C0010823 | Cytomegalovirus Infections | 1 | CTD_human | |
Tgene | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human | |
Tgene | C0235874 | Disease Exacerbation | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C0751706 | Primary Progressive Nonfluent Aphasia | 1 | ORPHANET | |
Tgene | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human | |
Tgene | C1833662 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human | |
Tgene | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human | |
Tgene | C3888102 | Frontotemporal Dementia With Motor Neuron Disease | 1 | ORPHANET | |
Tgene | C4011788 | Behavioral variant of frontotemporal dementia | 1 | ORPHANET | |
Tgene | C4749506 | Adult-onset distal myopathy due to valosin containing protein mutation | 1 | ORPHANET |