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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:ATP6V1E2-GRIK1 (FusionGDB2 ID:HG90423TG2897)

Fusion Gene Summary for ATP6V1E2-GRIK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1E2-GRIK1
Fusion gene ID: hg90423tg2897
HgeneTgene
Gene symbol

ATP6V1E2

GRIK1

Gene ID

90423

2897

Gene nameATPase H+ transporting V1 subunit E2glutamate ionotropic receptor kainate type subunit 1
SynonymsATP6E1|ATP6EL2|ATP6V1EL2|VMA4EAA3|EEA3|GLR5|GLUR5|GluK1|gluR-5
Cytomap('ATP6V1E2')('GRIK1')

2p21|2p16-p12

21q21.3

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit E 2ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2V-ATPase subunit E 2testis secretory sperm-binding protein Li 235Pvacuolar proton pump subunit E 2vacuolar-type proton-translocating ATPase subunit E1glutamate receptor ionotropic, kainate 1excitatory amino acid receptor 3glutamate receptor 5
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000522587, ENST00000306448, 
ENST00000505245, 
Fusion gene scores* DoF score1 X 1 X 1=112 X 9 X 6=648
# samples 112
** MAII scorelog2(1/1*10)=3.32192809488736log2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V1E2 [Title/Abstract] AND GRIK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V1E2(46762952)-GRIK1(31015289), # 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


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
ChimerDB4HNSCTCGA-CN-6992-01AATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-


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Fusion Gene ORF analysis for ATP6V1E2-GRIK1

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-3CDSENST00000522587ENST00000309434ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000327783ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000389124ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000389125ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000399907ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000399909ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000399913ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000399914ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-3CDSENST00000522587ENST00000535441ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
5UTR-5UTRENST00000522587ENST00000472429ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000309434ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000327783ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000389124ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000389125ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000399907ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000399909ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000399913ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000399914ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000306448ENST00000535441ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000309434ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000327783ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000389124ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000389125ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000399907ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000399909ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000399913ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000399914ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-3CDSENST00000505245ENST00000535441ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-5UTRENST00000306448ENST00000472429ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-
intron-5UTRENST00000505245ENST00000472429ATP6V1E2chr2

46762952

-GRIK1chr21

31015289

-

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 ATP6V1E2-GRIK1


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)


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Fusion Protein Features for ATP6V1E2-GRIK1


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/:46762952/:31015289)
- 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 ATP6V1E2-GRIK1


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 ATP6V1E2-GRIK1


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 ATP6V1E2-GRIK1


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 ATP6V1E2-GRIK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0687132heavy drinking2PSYGENET
TgeneC0001969Alcoholic Intoxication1PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0036572Seizures1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0573196Overdose of cocaine1PSYGENET
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC3496069cocaine use1PSYGENET
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human