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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:DNAJC1-COPB2 (FusionGDB2 ID:23482)

Fusion Gene Summary for DNAJC1-COPB2

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJC1-COPB2
Fusion gene ID: 23482
HgeneTgene
Gene symbol

DNAJC1

COPB2

Gene ID

64215

9276

Gene nameDnaJ heat shock protein family (Hsp40) member C1COPI coat complex subunit beta 2
SynonymsDNAJL1|ERdj1|HTJ1|MTJ1MCPH19|beta'-COP
Cytomap

10p12.31

3q23

Type of geneprotein-codingprotein-coding
DescriptiondnaJ homolog subfamily C member 1DnaJ (Hsp40) homolog, subfamily C, member 1DnaJ-like proteindnaJ protein homolog MTJ1coatomer subunit beta'beta'-coat proteinbetaprime-COPcoatomer binding complex, beta prime subunitcoatomer protein complex subunit beta 2coatomer protein complex subunit beta primecoatomer protein complex, subunit beta 2 (beta prime)p102
Modification date2020031320200313
UniProtAcc

Q96KC8

P35606

Ensembl transtripts involved in fusion geneENST00000376980, ENST00000376946, 
ENST00000483085, 
ENST00000510491, 
ENST00000333188, ENST00000507777, 
Fusion gene scores* DoF score17 X 15 X 7=17857 X 6 X 2=84
# samples 187
** MAII scorelog2(18/1785*10)=-3.30985526258679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNAJC1 [Title/Abstract] AND COPB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNAJC1(22217435)-COPB2(139077113), # samples:1
Anticipated loss of major functional domain due to fusion event.DNAJC1-COPB2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
DNAJC1-COPB2 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
HgeneDNAJC1

GO:0050708

regulation of protein secretion

14668352

TgeneCOPB2

GO:0006891

intra-Golgi vesicle-mediated transport

8335000


check buttonFusion gene breakpoints across DNAJC1 (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 COPB2 (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
ChimerDB4BRCATCGA-BH-A0BC-01ADNAJC1chr10

22217435

-COPB2chr3

139077113

-


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Fusion Gene ORF analysis for DNAJC1-COPB2

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
5CDS-intronENST00000376980ENST00000510491DNAJC1chr10

22217435

-COPB2chr3

139077113

-
Frame-shiftENST00000376980ENST00000333188DNAJC1chr10

22217435

-COPB2chr3

139077113

-
Frame-shiftENST00000376980ENST00000507777DNAJC1chr10

22217435

-COPB2chr3

139077113

-
intron-3CDSENST00000376946ENST00000333188DNAJC1chr10

22217435

-COPB2chr3

139077113

-
intron-3CDSENST00000376946ENST00000507777DNAJC1chr10

22217435

-COPB2chr3

139077113

-
intron-3CDSENST00000483085ENST00000333188DNAJC1chr10

22217435

-COPB2chr3

139077113

-
intron-3CDSENST00000483085ENST00000507777DNAJC1chr10

22217435

-COPB2chr3

139077113

-
intron-intronENST00000376946ENST00000510491DNAJC1chr10

22217435

-COPB2chr3

139077113

-
intron-intronENST00000483085ENST00000510491DNAJC1chr10

22217435

-COPB2chr3

139077113

-

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 DNAJC1-COPB2


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 DNAJC1-COPB2


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/:22217435/:139077113)
- 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
DNAJC1

Q96KC8

COPB2

P35606

FUNCTION: May modulate protein synthesis. {ECO:0000250}.FUNCTION: The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). {ECO:0000250}.; FUNCTION: This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (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 DNAJC1-COPB2


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 DNAJC1-COPB2


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 DNAJC1-COPB2


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 DNAJC1-COPB2


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