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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:COPS7A-GNB3 (FusionGDB2 ID:HG50813TG2784)

Fusion Gene Summary for COPS7A-GNB3

check button Fusion gene summary
Fusion gene informationFusion gene name: COPS7A-GNB3
Fusion gene ID: hg50813tg2784
HgeneTgene
Gene symbol

COPS7A

GNB3

Gene ID

50813

2784

Gene nameCOP9 signalosome subunit 7AG protein subunit beta 3
SynonymsCSN7|CSN7A|SGN7aCSNB1H
Cytomap('COPS7A')('GNB3')

12p13.31

12p13.31

Type of geneprotein-codingprotein-coding
DescriptionCOP9 signalosome complex subunit 7aCOP9 complex subunit 7aCOP9 constitutive photomorphogenic homolog subunit 7AJAB1-containing signalosome subunit 7adermal papilla-derived protein 10guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3G protein, beta-3 subunitGTP-binding regulatory protein beta-3 chainguanine nucleotide binding protein (G protein), beta polypeptide 3guanine nucleotide-binding protein G(I)/G(S)/G(T) bet
Modification date2020031320200313
UniProtAcc.

P16520

Ensembl transtripts involved in fusion geneENST00000229251, ENST00000534877, 
ENST00000534947, ENST00000539735, 
ENST00000542150, ENST00000543155, 
ENST00000538410, 
Fusion gene scores* DoF score8 X 5 X 6=2404 X 5 X 3=60
# samples 75
** MAII scorelog2(7/240*10)=-1.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COPS7A [Title/Abstract] AND GNB3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOPS7A(6839986)-GNB3(6954750), # samples:2
Anticipated loss of major functional domain due to fusion event.COPS7A-GNB3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
COPS7A-GNB3 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
COPS7A-GNB3 seems lost the major protein functional domain in Tgene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCOPS7A

GO:0000338

protein deneddylation

19141280



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
ChimerDB4LGGTCGA-S9-A6UA-01ACOPS7Achr12

6839986

+GNB3chr12

6954750

+
ChimerDB4LGGTCGA-S9-A6UACOPS7Achr12

6839986

+GNB3chr12

6954750

+


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Fusion Gene ORF analysis for COPS7A-GNB3

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
Frame-shiftENST00000229251ENST00000229264COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000229251ENST00000435982COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000534877ENST00000229264COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000534877ENST00000435982COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000534947ENST00000229264COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000534947ENST00000435982COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000539735ENST00000229264COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000539735ENST00000435982COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000542150ENST00000229264COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000542150ENST00000435982COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000543155ENST00000229264COPS7Achr12

6839986

+GNB3chr12

6954750

+
Frame-shiftENST00000543155ENST00000435982COPS7Achr12

6839986

+GNB3chr12

6954750

+
intron-3CDSENST00000538410ENST00000229264COPS7Achr12

6839986

+GNB3chr12

6954750

+
intron-3CDSENST00000538410ENST00000435982COPS7Achr12

6839986

+GNB3chr12

6954750

+

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 COPS7A-GNB3


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)
COPS7Achr126839987+GNB3chr126954749+4.31E-050.99995697
COPS7Achr126839987+GNB3chr126954749+4.31E-050.99995697
COPS7Achr126839987+GNB3chr126954749+4.31E-050.99995697
COPS7Achr126839987+GNB3chr126954749+4.31E-050.99995697


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for COPS7A-GNB3


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/:6839986/:6954750)
- 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
.GNB3

P16520

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: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

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 COPS7A-GNB3


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 COPS7A-GNB3


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 COPS7A-GNB3


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 COPS7A-GNB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOPS7AC0024623Malignant neoplasm of stomach1CTD_human
HgeneCOPS7AC0038356Stomach Neoplasms1CTD_human
HgeneCOPS7AC0235874Disease Exacerbation1CTD_human
HgeneCOPS7AC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0041696Unipolar Depression5PSYGENET
TgeneC1269683Major Depressive Disorder5PSYGENET
TgeneC0020538Hypertensive disease2CTD_human
TgeneC0028754Obesity2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0010054Coronary Arteriosclerosis1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0036572Seizures1CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0339535Night blindness, congenital stationary1CTD_human;ORPHANET
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC1956346Coronary Artery Disease1CTD_human
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4310758NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H1UNIPROT
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human