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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:ATP6V0E1-ERGIC1 (FusionGDB2 ID:8129)

Fusion Gene Summary for ATP6V0E1-ERGIC1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0E1-ERGIC1
Fusion gene ID: 8129
HgeneTgene
Gene symbol

ATP6V0E1

ERGIC1

Gene ID

8992

57222

Gene nameATPase H+ transporting V0 subunit e1endoplasmic reticulum-golgi intermediate compartment 1
SynonymsATP6H|ATP6V0E|M9.2|Vma21|Vma21pAMCN|ERGIC-32|ERGIC32|NET24
Cytomap

5q35.1

5q35.1

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit e 1ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1H(+)-transporting two-sector ATPase, subunit HV-ATPase 9.2 kDa membrane accessory proteinV-ATPase H subunitV-ATPase M9.2 subunitV-ATPase subunit e 1vacuolar ATP sendoplasmic reticulum-Golgi intermediate compartment protein 1ER-Golgi intermediate compartment 32 kDa proteinendoplasmic reticulum-golgi intermediate compartment (ERGIC) 1endoplasmic reticulum-golgi intermediate compartment 32 kDa protein
Modification date2020031320200313
UniProtAcc

O15342

Q969X5

Ensembl transtripts involved in fusion geneENST00000265093, ENST00000517669, 
ENST00000519374, ENST00000519911, 
ENST00000519860, ENST00000523291, 
ENST00000326654, ENST00000393784, 
Fusion gene scores* DoF score11 X 11 X 5=60510 X 13 X 7=910
# samples 1313
** MAII scorelog2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: ATP6V0E1 [Title/Abstract] AND ERGIC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V0E1(172410967)-ERGIC1(172315701), # samples:2
ATP6V0E1(172410967)-ERGIC1(172315702), # samples:2
Anticipated loss of major functional domain due to fusion event.ATP6V0E1-ERGIC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATP6V0E1-ERGIC1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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
TgeneERGIC1

GO:0006888

ER to Golgi vesicle-mediated transport

15308636


check buttonFusion gene breakpoints across ATP6V0E1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ERGIC1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4ESCATCGA-L5-A8NE-01AATP6V0E1chr5

172410967

-ERGIC1chr5

172315702

+
ChimerDB4ESCATCGA-L5-A8NEATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
ChimerDB4ESCATCGA-L5-A8NEATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
ChimerDB4LGGTCGA-DU-7007ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+


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Fusion Gene ORF analysis for ATP6V0E1-ERGIC1

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-3UTRENST00000265093ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000265093ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-3UTRENST00000265093ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000265093ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-3UTRENST00000517669ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000517669ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-3UTRENST00000517669ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000517669ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-3UTRENST00000519374ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000519374ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-3UTRENST00000519374ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000519374ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-3UTRENST00000519911ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000519911ENST00000519860ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-3UTRENST00000519911ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-3UTRENST00000519911ENST00000523291ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-intronENST00000265093ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-intronENST00000265093ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-intronENST00000517669ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-intronENST00000517669ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-intronENST00000517669ENST00000326654ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000517669ENST00000519860ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000517669ENST00000523291ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000519374ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-intronENST00000519374ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-intronENST00000519374ENST00000326654ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000519374ENST00000519860ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000519374ENST00000523291ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000519911ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
5CDS-intronENST00000519911ENST00000326654ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
5CDS-intronENST00000519911ENST00000326654ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000519911ENST00000519860ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
5CDS-intronENST00000519911ENST00000523291ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
Frame-shiftENST00000517669ENST00000393784ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
Frame-shiftENST00000519374ENST00000393784ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
Frame-shiftENST00000519911ENST00000393784ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
In-frameENST00000265093ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
In-frameENST00000265093ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
In-frameENST00000517669ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
In-frameENST00000517669ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
In-frameENST00000519374ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
In-frameENST00000519374ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
In-frameENST00000519911ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315701

+
In-frameENST00000519911ENST00000393784ATP6V0E1chr5

172410967

+ERGIC1chr5

172315702

+
intron-3CDSENST00000265093ENST00000393784ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
intron-intronENST00000265093ENST00000326654ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
intron-intronENST00000265093ENST00000519860ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+
intron-intronENST00000265093ENST00000523291ATP6V0E1chr5

172421825

+ERGIC1chr5

172359439

+

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 ATP6V0E1-ERGIC1


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)
ATP6V0E1chr5172410967+ERGIC1chr5172315701+1.74E-070.9999999
ATP6V0E1chr5172421825+ERGIC1chr5172359438+2.36E-131
ATP6V0E1chr5172410967+ERGIC1chr5172315701+1.74E-070.9999999
ATP6V0E1chr5172421825+ERGIC1chr5172359438+2.36E-131

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.
genomic feature

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 ATP6V0E1-ERGIC1


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/chr5:172410967/chr5:172315701)
- 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
ATP6V0E1

O15342

ERGIC1

Q969X5

FUNCTION: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.FUNCTION: Possible role in transport between endoplasmic reticulum and Golgi. {ECO:0000303|PubMed:15308636}.

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
HgeneATP6V0E1chr5:172410967chr5:172315701ENST00000517669+138_283482.0TransmembraneHelical
HgeneATP6V0E1chr5:172410967chr5:172315701ENST00000519374+148_2834361.6666666666667TransmembraneHelical
HgeneATP6V0E1chr5:172410967chr5:172315702ENST00000517669+138_283482.0TransmembraneHelical
HgeneATP6V0E1chr5:172410967chr5:172315702ENST00000519374+148_2834361.6666666666667TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315701ENST00000326654031_260160.0Topological domainCytoplasmic
TgeneERGIC1chr5:172410967chr5:172315701ENST0000032665403276_2900160.0Topological domainCytoplasmic
TgeneERGIC1chr5:172410967chr5:172315701ENST000003266540348_2540160.0Topological domainLumenal
TgeneERGIC1chr5:172410967chr5:172315701ENST00000393784010276_2906291.0Topological domainCytoplasmic
TgeneERGIC1chr5:172410967chr5:172315701ENST0000039378401048_2546291.0Topological domainLumenal
TgeneERGIC1chr5:172410967chr5:172315702ENST00000326654031_260160.0Topological domainCytoplasmic
TgeneERGIC1chr5:172410967chr5:172315702ENST0000032665403276_2900160.0Topological domainCytoplasmic
TgeneERGIC1chr5:172410967chr5:172315702ENST000003266540348_2540160.0Topological domainLumenal
TgeneERGIC1chr5:172410967chr5:172315702ENST00000393784010276_2906291.0Topological domainCytoplasmic
TgeneERGIC1chr5:172410967chr5:172315702ENST0000039378401048_2546291.0Topological domainLumenal
TgeneERGIC1chr5:172410967chr5:172315701ENST0000032665403255_2750160.0TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315701ENST000003266540327_470160.0TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315701ENST00000393784010255_2756291.0TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315701ENST0000039378401027_476291.0TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315702ENST0000032665403255_2750160.0TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315702ENST000003266540327_470160.0TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315702ENST00000393784010255_2756291.0TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315702ENST0000039378401027_476291.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP6V0E1chr5:172410967chr5:172315701ENST00000517669+1336_563482.0TransmembraneHelical
HgeneATP6V0E1chr5:172410967chr5:172315701ENST00000519374+1436_5634361.6666666666667TransmembraneHelical
HgeneATP6V0E1chr5:172410967chr5:172315702ENST00000517669+1336_563482.0TransmembraneHelical
HgeneATP6V0E1chr5:172410967chr5:172315702ENST00000519374+1436_5634361.6666666666667TransmembraneHelical
TgeneERGIC1chr5:172410967chr5:172315701ENST000003937840101_266291.0Topological domainCytoplasmic
TgeneERGIC1chr5:172410967chr5:172315702ENST000003937840101_266291.0Topological domainCytoplasmic


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Fusion Gene Sequence for ATP6V0E1-ERGIC1


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 ATP6V0E1-ERGIC1


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 ATP6V0E1-ERGIC1


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 ATP6V0E1-ERGIC1


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