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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:EDEM2-PEX14 (FusionGDB2 ID:HG55741TG5195)

Fusion Gene Summary for EDEM2-PEX14

check button Fusion gene summary
Fusion gene informationFusion gene name: EDEM2-PEX14
Fusion gene ID: hg55741tg5195
HgeneTgene
Gene symbol

EDEM2

PEX14

Gene ID

55741

5195

Gene nameER degradation enhancing alpha-mannosidase like protein 2peroxisomal biogenesis factor 14
SynonymsC20orf31|C20orf49|bA4204.1NAPP2|PBD13A|Pex14p|dJ734G22.2
Cytomap('EDEM2')('PEX14')

20q11.22

1p36.22

Type of geneprotein-codingprotein-coding
DescriptionER degradation-enhancing alpha-mannosidase-like protein 2ER degradation enhancer, mannosidase alpha-like 2ER degradation-enhancing alpha-mannosidase-like 2ER degradation-enhancing-mannosidase-like protein 2peroxisomal membrane protein PEX14NF-E2 associated polypeptide 2PTS1 receptor docking proteinperoxin-14peroxisomal membrane anchor protein PEX14peroxisomal membrane anchor protein Pex14p
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000540582, ENST00000374491, 
ENST00000374492, ENST00000541621, 
ENST00000542871, 
Fusion gene scores* DoF score4 X 2 X 4=3213 X 10 X 7=910
# samples 413
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/910*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EDEM2 [Title/Abstract] AND PEX14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEDEM2(33859808)-PEX14(10659295), # samples:2
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
TgenePEX14

GO:0016561

protein import into peroxisome matrix, translocation

21525035

TgenePEX14

GO:0032091

negative regulation of protein binding

21976670

TgenePEX14

GO:0034453

microtubule anchoring

21525035

TgenePEX14

GO:0036250

peroxisome transport along microtubule

21525035

TgenePEX14

GO:0043433

negative regulation of DNA-binding transcription factor activity

11863372

TgenePEX14

GO:0044721

protein import into peroxisome matrix, substrate release

21976670

TgenePEX14

GO:0045892

negative regulation of transcription, DNA-templated

11863372

TgenePEX14

GO:0065003

protein-containing complex assembly

21525035



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
ChimerDB4STADTCGA-BR-7197-01AEDEM2chr20

33859808

-PEX14chr1

10659295

+


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Fusion Gene ORF analysis for EDEM2-PEX14

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-3CDSENST00000540582ENST00000356607EDEM2chr20

33859808

-PEX14chr1

10659295

+
5UTR-5UTRENST00000540582ENST00000538836EDEM2chr20

33859808

-PEX14chr1

10659295

+
5UTR-intronENST00000540582ENST00000492696EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-3CDSENST00000374491ENST00000356607EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-3CDSENST00000374492ENST00000356607EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-3CDSENST00000541621ENST00000356607EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-3CDSENST00000542871ENST00000356607EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-5UTRENST00000374491ENST00000538836EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-5UTRENST00000374492ENST00000538836EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-5UTRENST00000541621ENST00000538836EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-5UTRENST00000542871ENST00000538836EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-intronENST00000374491ENST00000492696EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-intronENST00000374492ENST00000492696EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-intronENST00000541621ENST00000492696EDEM2chr20

33859808

-PEX14chr1

10659295

+
intron-intronENST00000542871ENST00000492696EDEM2chr20

33859808

-PEX14chr1

10659295

+

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 EDEM2-PEX14


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)
EDEM2chr2033859807-PEX14chr110659294+0.89355140.10644853
EDEM2chr2033859807-PEX14chr110659294+0.89355140.10644853


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 EDEM2-PEX14


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/:33859808/:10659295)
- 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
..
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: 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}.

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 EDEM2-PEX14


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 EDEM2-PEX14


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 EDEM2-PEX14


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 EDEM2-PEX14


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEDEM2C0036341Schizophrenia1CTD_human
TgeneC3554004PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)5CTD_human;GENOMICS_ENGLAND
TgeneC1832200Peroxisome biogenesis disorders4CTD_human;GENOMICS_ENGLAND
TgeneC0043459Zellweger Syndrome2CTD_human;GENOMICS_ENGLAND
TgeneC0751594Zellweger-Like Syndrome2CTD_human
TgeneC3658299Zellweger Spectrum2CTD_human
TgeneC0010093Corpus Luteum Cyst1CTD_human
TgeneC0029927Ovarian Cysts1CTD_human