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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:DCAF8-COPA (FusionGDB2 ID:21536)

Fusion Gene Summary for DCAF8-COPA

check button Fusion gene summary
Fusion gene informationFusion gene name: DCAF8-COPA
Fusion gene ID: 21536
HgeneTgene
Gene symbol

DCAF8

COPA

Gene ID

50717

1314

Gene nameDDB1 and CUL4 associated factor 8COPI coat complex subunit alpha
SynonymsGAN2|H326|WDR42AAILJK|HEP-COP|alpha-COP
Cytomap

1q23.2

1q23.2

Type of geneprotein-codingprotein-coding
DescriptionDDB1- and CUL4-associated factor 8WD repeat domain 42AWD repeat-containing protein 42Acoatomer subunit alphaalpha coat proteincoatomer protein complex subunit alphaproxeninxenin
Modification date2020031320200327
UniProtAcc

Q5TAQ9

P53621

Ensembl transtripts involved in fusion geneENST00000368073, ENST00000326837, 
ENST00000368074, ENST00000608310, 
ENST00000556710, ENST00000610139, 
ENST00000475733, 
ENST00000368069, 
ENST00000241704, 
Fusion gene scores* DoF score9 X 12 X 6=64812 X 9 X 8=864
# samples 1213
** MAII scorelog2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/864*10)=-2.73251968913501
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DCAF8 [Title/Abstract] AND COPA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDCAF8(160252207)-COPA(160260006), # 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
TgeneCOPA

GO:0030157

pancreatic juice secretion

1429581


check buttonFusion gene breakpoints across DCAF8 (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 COPA (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
ChimerDB4STADTCGA-HU-8238-01ADCAF8chr1

160252207

-COPAchr1

160260006

-


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Fusion Gene ORF analysis for DCAF8-COPA

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
intron-3CDSENST00000368073ENST00000368069DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000368073ENST00000241704DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000326837ENST00000368069DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000326837ENST00000241704DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000368074ENST00000368069DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000368074ENST00000241704DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000608310ENST00000368069DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000608310ENST00000241704DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000556710ENST00000368069DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000556710ENST00000241704DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000610139ENST00000368069DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000610139ENST00000241704DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000475733ENST00000368069DCAF8chr1

160252207

-COPAchr1

160260006

-
intron-3CDSENST00000475733ENST00000241704DCAF8chr1

160252207

-COPAchr1

160260006

-

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 DCAF8-COPA


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 DCAF8-COPA


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DCAF8

Q5TAQ9

COPA

P53621

FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}.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: Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor.

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 DCAF8-COPA


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 DCAF8-COPA


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 DCAF8-COPA


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 DCAF8-COPA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDCAF8C4013360GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT1GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOPAC4225334AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOPAC0003864Arthritis1CTD_human
TgeneCOPAC0004364Autoimmune Diseases1CTD_human
TgeneCOPAC0162323Polyarthritis1CTD_human
TgeneCOPAC0206061Pneumonia, Interstitial1CTD_human
TgeneCOPAC0206062Lung Diseases, Interstitial1CTD_human
TgeneCOPAC3860213Autoinflammatory disorder1GENOMICS_ENGLAND