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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:P2RX4-CAMKK2 (FusionGDB2 ID:HG5025TG10645)

Fusion Gene Summary for P2RX4-CAMKK2

check button Fusion gene summary
Fusion gene informationFusion gene name: P2RX4-CAMKK2
Fusion gene ID: hg5025tg10645
HgeneTgene
Gene symbol

P2RX4

CAMKK2

Gene ID

5025

10645

Gene namepurinergic receptor P2X 4calcium/calmodulin dependent protein kinase kinase 2
SynonymsP2X4|P2X4RCAMKK|CAMKKB
Cytomap('P2RX4')('CAMKK2')

12q24.31

12q24.31

Type of geneprotein-codingprotein-coding
DescriptionP2X purinoceptor 4ATP receptorATP-gated cation channel proteinP2X receptor, subunit 4purinergic receptor P2X, ligand gated ion channel, 4purinergic receptor P2X4purinoceptor P2X4calcium/calmodulin-dependent protein kinase kinase 2CAMKK beta proteincaM-KK 2caM-KK betacaM-kinase kinase 2caM-kinase kinase betacalcium/calmodulin-dependent protein kinase betacalcium/calmodulin-dependent protein kinase kinase 2, beta
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000540930, ENST00000337233, 
ENST00000359949, ENST00000541532, 
ENST00000543171, 
Fusion gene scores* DoF score3 X 2 X 3=184 X 4 X 3=48
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: P2RX4 [Title/Abstract] AND CAMKK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointP2RX4(121648101)-CAMKK2(121712388), # 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
HgeneP2RX4

GO:0007165

signal transduction

9016352

HgeneP2RX4

GO:0010524

positive regulation of calcium ion transport into cytosol

10969036

HgeneP2RX4

GO:0033198

response to ATP

9016352

HgeneP2RX4

GO:0034220

ion transmembrane transport

10515189

HgeneP2RX4

GO:0034405

response to fluid shear stress

10969036

HgeneP2RX4

GO:0050850

positive regulation of calcium-mediated signaling

10969036

HgeneP2RX4

GO:0051899

membrane depolarization

9016352

HgeneP2RX4

GO:0070588

calcium ion transmembrane transport

9016352

HgeneP2RX4

GO:0071318

cellular response to ATP

10515189

HgeneP2RX4

GO:0097190

apoptotic signaling pathway

17264311

TgeneCAMKK2

GO:0006468

protein phosphorylation

11395482

TgeneCAMKK2

GO:0046777

protein autophosphorylation

11395482



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
ChimerDB4DLBCTCGA-FA-A7Q1P2RX4chr12

121648101

+CAMKK2chr12

121712388

-


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Fusion Gene ORF analysis for P2RX4-CAMKK2

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
3UTR-5UTRENST00000540930ENST00000324774P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000337174P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000347034P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000392473P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000402834P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000404169P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000412367P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000446440P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000535524P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-5UTRENST00000540930ENST00000538733P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-intronENST00000540930ENST00000392474P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
3UTR-intronENST00000540930ENST00000545538P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000324774P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000337174P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000347034P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000392473P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000402834P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000404169P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000412367P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000446440P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000535524P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000337233ENST00000538733P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000324774P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000337174P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000347034P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000392473P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000402834P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000404169P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000412367P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000446440P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000535524P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000359949ENST00000538733P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000324774P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000337174P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000347034P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000392473P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000402834P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000404169P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000412367P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000446440P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000535524P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-5UTRENST00000541532ENST00000538733P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-intronENST00000337233ENST00000392474P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-intronENST00000337233ENST00000545538P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-intronENST00000359949ENST00000392474P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-intronENST00000359949ENST00000545538P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-intronENST00000541532ENST00000392474P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5CDS-intronENST00000541532ENST00000545538P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000324774P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000337174P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000347034P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000392473P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000402834P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000404169P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000412367P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000446440P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000535524P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-5UTRENST00000543171ENST00000538733P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-intronENST00000543171ENST00000392474P2RX4chr12

121648101

+CAMKK2chr12

121712388

-
5UTR-intronENST00000543171ENST00000545538P2RX4chr12

121648101

+CAMKK2chr12

121712388

-

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 P2RX4-CAMKK2


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 P2RX4-CAMKK2


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/:121648101/:121712388)
- 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 P2RX4-CAMKK2


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 P2RX4-CAMKK2


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 P2RX4-CAMKK2


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 P2RX4-CAMKK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneP2RX4C0014544Epilepsy1CTD_human
HgeneP2RX4C0014556Epilepsy, Temporal Lobe1CTD_human
HgeneP2RX4C0014558Uncinate Epilepsy1CTD_human
HgeneP2RX4C0086237Epilepsy, Cryptogenic1CTD_human
HgeneP2RX4C0236018Aura1CTD_human
HgeneP2RX4C0393672Epilepsy, Benign Psychomotor, Childhood1CTD_human
HgeneP2RX4C0393682Epilepsy, Lateral Temporal1CTD_human
HgeneP2RX4C0751111Awakening Epilepsy1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human