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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:RAI14-COPS5 (FusionGDB2 ID:71847)

Fusion Gene Summary for RAI14-COPS5

check button Fusion gene summary
Fusion gene informationFusion gene name: RAI14-COPS5
Fusion gene ID: 71847
HgeneTgene
Gene symbol

RAI14

COPS5

Gene ID

26064

10987

Gene nameretinoic acid induced 14COP9 signalosome subunit 5
SynonymsNORPEG|RAI13CSN5|JAB1|MOV-34|SGN5
Cytomap

5p13.2

8q13.1

Type of geneprotein-codingprotein-coding
Descriptionankycorbinankyrin repeat and coiled-coil structure-containing proteinnovel retinal pigment epithelial cell proteinretinoic acid-induced protein 14COP9 signalosome complex subunit 538 kDa Mov34 homologCOP9 constitutive photomorphogenic homolog subunit 5jun activation domain-binding protein 1signalosome subunit 5testis secretory sperm-binding protein Li 231m
Modification date2020031320200327
UniProtAcc.

Q92905

Ensembl transtripts involved in fusion geneENST00000265109, ENST00000512629, 
ENST00000397449, ENST00000428746, 
ENST00000503673, ENST00000506376, 
ENST00000507276, ENST00000515799, 
ENST00000357849, ENST00000517736, 
ENST00000519963, 
Fusion gene scores* DoF score17 X 11 X 6=11224 X 4 X 3=48
# samples 175
** MAII scorelog2(17/1122*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RAI14 [Title/Abstract] AND COPS5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRAI14(34656580)-COPS5(67963576), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneCOPS5

GO:0000338

protein deneddylation

19141280

TgeneCOPS5

GO:0016579

protein deubiquitination

19246649

TgeneCOPS5

GO:0045944

positive regulation of transcription by RNA polymerase II

16410250

TgeneCOPS5

GO:0046328

regulation of JNK cascade

16410250

TgeneCOPS5

GO:0051091

positive regulation of DNA-binding transcription factor activity

20978819

TgeneCOPS5

GO:1990182

exosomal secretion

19246649


check buttonFusion gene breakpoints across RAI14 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across COPS5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4OVTCGA-29-1699-01ARAI14chr5

34656580

+COPS5chr8

67963576

-


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Fusion Gene ORF analysis for RAI14-COPS5

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
5UTR-3CDSENST00000265109ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
5UTR-3CDSENST00000265109ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
5UTR-3CDSENST00000512629ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
5UTR-3CDSENST00000512629ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
5UTR-intronENST00000265109ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-
5UTR-intronENST00000512629ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000397449ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000397449ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000428746ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000428746ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000503673ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000503673ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000506376ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000506376ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000507276ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000507276ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000515799ENST00000357849RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-3CDSENST00000515799ENST00000517736RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-intronENST00000397449ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-intronENST00000428746ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-intronENST00000503673ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-intronENST00000506376ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-intronENST00000507276ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-
intron-intronENST00000515799ENST00000519963RAI14chr5

34656580

+COPS5chr8

67963576

-

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 RAI14-COPS5


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for RAI14-COPS5


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/:34656580/:67963576)
- 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
.COPS5

Q92905

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: Probable protease subunit of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of the SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. In the complex, it probably acts as the catalytic center that mediates the cleavage of Nedd8 from cullins. It however has no metalloprotease activity by itself and requires the other subunits of the CSN complex. Interacts directly with a large number of proteins that are regulated by the CSN complex, confirming a key role in the complex. Promotes the proteasomal degradation of BRSK2. {ECO:0000269|PubMed:11285227, ECO:0000269|PubMed:11337588, ECO:0000269|PubMed:12628923, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:19214193, ECO:0000269|PubMed:20978819, ECO:0000269|PubMed:22609399, ECO:0000269|PubMed:9535219}.

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 RAI14-COPS5


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 RAI14-COPS5


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 RAI14-COPS5


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 RAI14-COPS5


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