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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:COPS5-HVCN1 (FusionGDB2 ID:HG10987TG84329)

Fusion Gene Summary for COPS5-HVCN1

check button Fusion gene summary
Fusion gene informationFusion gene name: COPS5-HVCN1
Fusion gene ID: hg10987tg84329
HgeneTgene
Gene symbol

COPS5

HVCN1

Gene ID

10987

84329

Gene nameCOP9 signalosome subunit 5hydrogen voltage gated channel 1
SynonymsCSN5|JAB1|MOV-34|SGN5HV1|VSOP
Cytomap('COPS5')('HVCN1')

8q13.1

12q24.11

Type of geneprotein-codingprotein-coding
DescriptionCOP9 signalosome complex subunit 538 kDa Mov34 homologCOP9 constitutive photomorphogenic homolog subunit 5jun activation domain-binding protein 1signalosome subunit 5testis secretory sperm-binding protein Li 231mvoltage-gated hydrogen channel 1voltage sensor domain-only protein
Modification date2020032720200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000517736, ENST00000357849, 
ENST00000519963, 
Fusion gene scores* DoF score4 X 4 X 2=327 X 7 X 4=196
# samples 48
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COPS5 [Title/Abstract] AND HVCN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOPS5(67958047)-HVCN1(111099253), # samples:1
Anticipated loss of major functional domain due to fusion event.COPS5-HVCN1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
COPS5-HVCN1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCOPS5

GO:0000338

protein deneddylation

19141280

HgeneCOPS5

GO:0016579

protein deubiquitination

19246649

HgeneCOPS5

GO:0045944

positive regulation of transcription by RNA polymerase II

16410250

HgeneCOPS5

GO:0046328

regulation of JNK cascade

16410250

HgeneCOPS5

GO:0051091

positive regulation of DNA-binding transcription factor activity

20978819

HgeneCOPS5

GO:1990182

exosomal secretion

19246649

TgeneHVCN1

GO:0010043

response to zinc ion

16554753

TgeneHVCN1

GO:0071294

cellular response to zinc ion

22020278

TgeneHVCN1

GO:0071467

cellular response to pH

22020278

TgeneHVCN1

GO:1902600

proton transmembrane transport

22020278



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
ChimerDB4SARCTCGA-3B-A9HO-01ACOPS5chr8

67958047

-HVCN1chr12

111099253

-


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Fusion Gene ORF analysis for COPS5-HVCN1

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
3UTR-3CDSENST00000517736ENST00000242607COPS5chr8

67958047

-HVCN1chr12

111099253

-
3UTR-3CDSENST00000517736ENST00000356742COPS5chr8

67958047

-HVCN1chr12

111099253

-
3UTR-3CDSENST00000517736ENST00000548312COPS5chr8

67958047

-HVCN1chr12

111099253

-
3UTR-5UTRENST00000517736ENST00000439744COPS5chr8

67958047

-HVCN1chr12

111099253

-
5CDS-5UTRENST00000357849ENST00000439744COPS5chr8

67958047

-HVCN1chr12

111099253

-
Frame-shiftENST00000357849ENST00000242607COPS5chr8

67958047

-HVCN1chr12

111099253

-
Frame-shiftENST00000357849ENST00000356742COPS5chr8

67958047

-HVCN1chr12

111099253

-
Frame-shiftENST00000357849ENST00000548312COPS5chr8

67958047

-HVCN1chr12

111099253

-
intron-3CDSENST00000519963ENST00000242607COPS5chr8

67958047

-HVCN1chr12

111099253

-
intron-3CDSENST00000519963ENST00000356742COPS5chr8

67958047

-HVCN1chr12

111099253

-
intron-3CDSENST00000519963ENST00000548312COPS5chr8

67958047

-HVCN1chr12

111099253

-
intron-5UTRENST00000519963ENST00000439744COPS5chr8

67958047

-HVCN1chr12

111099253

-

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)

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

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Fusion Genomic Features for COPS5-HVCN1


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)


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Fusion Protein Features for COPS5-HVCN1


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/:67958047/:111099253)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for COPS5-HVCN1


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.

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Fusion Gene PPI Analysis for COPS5-HVCN1


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 COPS5-HVCN1


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 COPS5-HVCN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOPS5C0014518Toxic Epidermal Necrolysis1CTD_human
HgeneCOPS5C0038325Stevens-Johnson Syndrome1CTD_human
HgeneCOPS5C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
HgeneCOPS5C2239176Liver carcinoma1CTD_human
HgeneCOPS5C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
HgeneCOPS5C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human