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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:VPS8-EIF2AK4 (FusionGDB2 ID:HG23355TG440275)

Fusion Gene Summary for VPS8-EIF2AK4

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS8-EIF2AK4
Fusion gene ID: hg23355tg440275
HgeneTgene
Gene symbol

VPS8

EIF2AK4

Gene ID

23355

440275

Gene nameVPS8 subunit of CORVET complexeukaryotic translation initiation factor 2 alpha kinase 4
SynonymsKIAA0804GCN2|PVOD2
Cytomap('VPS8')('EIF2AK4')

3q27.2

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 8 homologVPS8, CORVET complex subunitvacuolar protein sorting 8 homologeIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000287546, ENST00000436792, 
ENST00000437079, ENST00000446204, 
ENST00000424463, ENST00000463687, 
Fusion gene scores* DoF score15 X 8 X 7=8406 X 13 X 5=390
# samples 1713
** MAII scorelog2(17/840*10)=-2.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/390*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS8 [Title/Abstract] AND EIF2AK4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointVPS8(184588593)-EIF2AK4(40318178), # 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


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-CG-4449-01AVPS8chr3

184588593

-EIF2AK4chr15

40318178

+
ChimerDB4STADTCGA-CG-4449-01AVPS8chr3

184588593

+EIF2AK4chr15

40318178

+
ChimerDB4STADTCGA-CG-4449VPS8chr3

184588593

+EIF2AK4chr15

40318177

+


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Fusion Gene ORF analysis for VPS8-EIF2AK4

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-intronENST00000287546ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000287546ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000287546ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000287546ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000287546ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000287546ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000287546ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000287546ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000287546ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000287546ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000436792ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000436792ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000436792ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000436792ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000436792ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000436792ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000436792ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000436792ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000436792ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000436792ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000437079ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000437079ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000437079ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000437079ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000437079ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000437079ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000437079ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000437079ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000437079ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000437079ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000446204ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000446204ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000446204ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000446204ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000446204ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000446204ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000446204ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000446204ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
5CDS-intronENST00000446204ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
5CDS-intronENST00000446204ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000424463ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000424463ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000424463ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000424463ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000424463ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000424463ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000424463ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000424463ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000424463ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000424463ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000463687ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000463687ENST00000263791VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000463687ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000463687ENST00000382727VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000463687ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000463687ENST00000559311VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000463687ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000463687ENST00000559624VPS8chr3

184588593

+EIF2AK4chr15

40318177

+
intron-intronENST00000463687ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318178

+
intron-intronENST00000463687ENST00000560648VPS8chr3

184588593

+EIF2AK4chr15

40318177

+

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 VPS8-EIF2AK4


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)
VPS8chr3184588593+EIF2AK4chr1540318177+0.0003908380.9996092
VPS8chr3184588593+EIF2AK4chr1540318177+0.0003908380.9996092
VPS8chr3184588593+EIF2AK4chr1540318177+0.0003908380.9996092
VPS8chr3184588593+EIF2AK4chr1540318177+0.0003908380.9996092


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 VPS8-EIF2AK4


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/:184588593/:40318178)
- 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 VPS8-EIF2AK4


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 VPS8-EIF2AK4


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 VPS8-EIF2AK4


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 VPS8-EIF2AK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS8C0003886Arthrogryposis3CLINGEN;GENOMICS_ENGLAND
TgeneC0340848PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE3GENOMICS_ENGLAND;UNIPROT
TgeneC0034091Pulmonary Veno-Occlusive Disease (disorder)2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0340543Familial primary pulmonary hypertension2GENOMICS_ENGLAND;ORPHANET
TgeneC0340548Pulmonary capillary hemangiomatosis2GENOMICS_ENGLAND;ORPHANET
TgeneC0002514Amino Acid Metabolism, Inborn Errors1CTD_human
TgeneC0018500Hair Diseases1CTD_human
TgeneC0020542Pulmonary Hypertension1CTD_human
TgeneC0021053Immune System Diseases1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0152171Idiopathic pulmonary hypertension1GENOMICS_ENGLAND
TgeneC0750905Amino Acid Metabolism, Inherited Disorders1CTD_human
TgeneC11509292-oxo-hept-3-ene-1,7-dioate hydratase activity1GENOMICS_ENGLAND
TgeneC1701939Familial pulmonary arterial hypertension1ORPHANET
TgeneC2973725Pulmonary arterial hypertension1GENOMICS_ENGLAND
TgeneC3203102Idiopathic pulmonary arterial hypertension1GENOMICS_ENGLAND