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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:JUP-EIF1 (FusionGDB2 ID:41065)

Fusion Gene Summary for JUP-EIF1

check button Fusion gene summary
Fusion gene informationFusion gene name: JUP-EIF1
Fusion gene ID: 41065
HgeneTgene
Gene symbol

JUP

EIF1

Gene ID

3728

10209

Gene namejunction plakoglobineukaryotic translation initiation factor 1
SynonymsCTNNG|DP3|DPIII|PDGB|PKGBA121|EIF-1|EIF1A|ISO1|SUI1
Cytomap

17q21.2

17q21.2

Type of geneprotein-codingprotein-coding
Descriptionjunction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3eukaryotic translation initiation factor 1protein translation factor SUI1 homologsui1iso1
Modification date2020031320200313
UniProtAcc

P14923

O60739

Ensembl transtripts involved in fusion geneENST00000310706, ENST00000393931, 
ENST00000393930, ENST00000540235, 
ENST00000469257, ENST00000591776, 
ENST00000310837, 
Fusion gene scores* DoF score22 X 25 X 12=660016 X 13 X 8=1664
# samples 3217
** MAII scorelog2(32/6600*10)=-4.36632221424582
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1664*10)=-3.29104878200339
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: JUP [Title/Abstract] AND EIF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointJUP(39942840)-EIF1(39846030), # samples:1
JUP(39942840)-EIF1(39845144), # 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
HgeneJUP

GO:0002159

desmosome assembly

22889254

HgeneJUP

GO:0042127

regulation of cell proliferation

17924338

HgeneJUP

GO:0042307

positive regulation of protein import into nucleus

10825188|14661054

HgeneJUP

GO:0050982

detection of mechanical stimulus

18937352

HgeneJUP

GO:0051091

positive regulation of DNA-binding transcription factor activity

14661054

HgeneJUP

GO:0071681

cellular response to indole-3-methanol

10868478

HgeneJUP

GO:0098609

cell-cell adhesion

18937352

TgeneEIF1

GO:0006446

regulation of translational initiation

22156057


check buttonFusion gene breakpoints across JUP (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 EIF1 (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
ChimerDB4LUSCTCGA-63-A5MLJUPchr17

39942840

-EIF1chr17

39845144

+
ChimerDB4LUSCTCGA-63-A5MLJUPchr17

39942840

-EIF1chr17

39846030

+


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Fusion Gene ORF analysis for JUP-EIF1

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-3CDSENST00000310706ENST00000469257JUPchr17

39942840

-EIF1chr17

39845144

+
5UTR-3CDSENST00000310706ENST00000469257JUPchr17

39942840

-EIF1chr17

39846030

+
5UTR-3CDSENST00000310706ENST00000591776JUPchr17

39942840

-EIF1chr17

39845144

+
5UTR-3CDSENST00000310706ENST00000591776JUPchr17

39942840

-EIF1chr17

39846030

+
5UTR-3CDSENST00000393931ENST00000469257JUPchr17

39942840

-EIF1chr17

39845144

+
5UTR-3CDSENST00000393931ENST00000469257JUPchr17

39942840

-EIF1chr17

39846030

+
5UTR-3CDSENST00000393931ENST00000591776JUPchr17

39942840

-EIF1chr17

39845144

+
5UTR-3CDSENST00000393931ENST00000591776JUPchr17

39942840

-EIF1chr17

39846030

+
5UTR-intronENST00000310706ENST00000310837JUPchr17

39942840

-EIF1chr17

39845144

+
5UTR-intronENST00000310706ENST00000310837JUPchr17

39942840

-EIF1chr17

39846030

+
5UTR-intronENST00000393931ENST00000310837JUPchr17

39942840

-EIF1chr17

39845144

+
5UTR-intronENST00000393931ENST00000310837JUPchr17

39942840

-EIF1chr17

39846030

+
intron-3CDSENST00000393930ENST00000469257JUPchr17

39942840

-EIF1chr17

39845144

+
intron-3CDSENST00000393930ENST00000469257JUPchr17

39942840

-EIF1chr17

39846030

+
intron-3CDSENST00000393930ENST00000591776JUPchr17

39942840

-EIF1chr17

39845144

+
intron-3CDSENST00000393930ENST00000591776JUPchr17

39942840

-EIF1chr17

39846030

+
intron-3CDSENST00000540235ENST00000469257JUPchr17

39942840

-EIF1chr17

39845144

+
intron-3CDSENST00000540235ENST00000469257JUPchr17

39942840

-EIF1chr17

39846030

+
intron-3CDSENST00000540235ENST00000591776JUPchr17

39942840

-EIF1chr17

39845144

+
intron-3CDSENST00000540235ENST00000591776JUPchr17

39942840

-EIF1chr17

39846030

+
intron-intronENST00000393930ENST00000310837JUPchr17

39942840

-EIF1chr17

39845144

+
intron-intronENST00000393930ENST00000310837JUPchr17

39942840

-EIF1chr17

39846030

+
intron-intronENST00000540235ENST00000310837JUPchr17

39942840

-EIF1chr17

39845144

+
intron-intronENST00000540235ENST00000310837JUPchr17

39942840

-EIF1chr17

39846030

+

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 JUP-EIF1


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)
JUPchr1739942839-EIF1chr1739845144+0.87372090.12627918
JUPchr1739942839-EIF1chr1739846029+0.0180927980.9819072
JUPchr1739942839-EIF1chr1739845144+0.87372090.12627918
JUPchr1739942839-EIF1chr1739846029+0.0180927980.9819072

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.
genomic feature of top 1%

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Fusion Protein Features for JUP-EIF1


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/:39942840/:39846030)
- 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
JUP

P14923

EIF1

O60739

FUNCTION: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity). {ECO:0000250}.FUNCTION: Probably involved in translation.

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 JUP-EIF1


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 JUP-EIF1


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 JUP-EIF1


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 JUP-EIF1


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