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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:NSF-ATP6V0E1 (FusionGDB2 ID:60476)

Fusion Gene Summary for NSF-ATP6V0E1

check button Fusion gene summary
Fusion gene informationFusion gene name: NSF-ATP6V0E1
Fusion gene ID: 60476
HgeneTgene
Gene symbol

NSF

ATP6V0E1

Gene ID

4905

8992

Gene nameN-ethylmaleimide sensitive factor, vesicle fusing ATPaseATPase H+ transporting V0 subunit e1
SynonymsSEC18|SKD2ATP6H|ATP6V0E|M9.2|Vma21|Vma21p
Cytomap

17q21.31

5q35.1

Type of geneprotein-codingprotein-coding
Descriptionvesicle-fusing ATPaseN-ethylmaleimide-sensitive factor-like proteinN-ethylmaleimide-sensitive fusion proteinNEM-sensitive fusion proteinepididymis secretory sperm binding proteinvesicular-fusion protein NSFV-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 s
Modification date2020031320200313
UniProtAcc.

O15342

Ensembl transtripts involved in fusion geneENST00000398238, ENST00000575068, 
ENST00000225282, 		ENST00000265093, 
ENST00000517669, ENST00000519911, 
ENST00000519374, 
Fusion gene scores* DoF score8 X 5 X 5=20014 X 14 X 4=784
# samples 815
** MAII scorelog2(8/200*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/784*10)=-2.38589115361933
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NSF [Title/Abstract] AND ATP6V0E1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNSF(44707816)-ATP6V0E1(172447240), # samples:1
NSF(44707816)-ATP6V0E1(172447241), # samples:1
Anticipated loss of major functional domain due to fusion event.NSF-ATP6V0E1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NSF-ATP6V0E1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
NSF-ATP6V0E1 seems lost the major protein functional domain in Tgene 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
HgeneNSF

GO:0001921

positive regulation of receptor recycling

15613468


check buttonFusion gene breakpoints across NSF (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 ATP6V0E1 (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
ChimerDB4PRADTCGA-YL-A9WYNSFchr17

44707816

+ATP6V0E1chr5

172447240

+
ChimerDB4PRADTCGA-YL-A9WYNSFchr17

44707816

+ATP6V0E1chr5

172447241

+


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Fusion Gene ORF analysis for NSF-ATP6V0E1

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-intronENST00000398238ENST00000265093NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
5CDS-intronENST00000398238ENST00000265093NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
5CDS-intronENST00000398238ENST00000517669NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
5CDS-intronENST00000398238ENST00000517669NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
5CDS-intronENST00000398238ENST00000519911NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
5CDS-intronENST00000398238ENST00000519911NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
5CDS-intronENST00000575068ENST00000265093NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
5CDS-intronENST00000575068ENST00000265093NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
5CDS-intronENST00000575068ENST00000517669NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
5CDS-intronENST00000575068ENST00000517669NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
5CDS-intronENST00000575068ENST00000519911NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
5CDS-intronENST00000575068ENST00000519911NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
Frame-shiftENST00000398238ENST00000519374NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
Frame-shiftENST00000398238ENST00000519374NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
Frame-shiftENST00000575068ENST00000519374NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
Frame-shiftENST00000575068ENST00000519374NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
intron-3CDSENST00000225282ENST00000519374NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
intron-3CDSENST00000225282ENST00000519374NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
intron-intronENST00000225282ENST00000265093NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
intron-intronENST00000225282ENST00000265093NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
intron-intronENST00000225282ENST00000517669NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
intron-intronENST00000225282ENST00000517669NSFchr17

44707816

+ATP6V0E1chr5

172447241

+
intron-intronENST00000225282ENST00000519911NSFchr17

44707816

+ATP6V0E1chr5

172447240

+
intron-intronENST00000225282ENST00000519911NSFchr17

44707816

+ATP6V0E1chr5

172447241

+

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 NSF-ATP6V0E1


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)
NSFchr1744707816+ATP6V0E1chr5172447240+1.61E-050.9999839
NSFchr1744707816+ATP6V0E1chr5172447240+1.61E-050.9999839

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 NSF-ATP6V0E1


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/:44707816/:172447240)
- 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

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: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

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 NSF-ATP6V0E1


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 NSF-ATP6V0E1


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 NSF-ATP6V0E1


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 NSF-ATP6V0E1


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