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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:ATP1B3-GRK7 (FusionGDB2 ID:7816)

Fusion Gene Summary for ATP1B3-GRK7

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP1B3-GRK7
Fusion gene ID: 7816
HgeneTgene
Gene symbol

ATP1B3

GRK7

Gene ID

483

131890

Gene nameATPase Na+/K+ transporting subunit beta 3G protein-coupled receptor kinase 7
SynonymsATPB-3|CD298GPRK7
Cytomap

3q23

3q23

Type of geneprotein-codingprotein-coding
Descriptionsodium/potassium-transporting ATPase subunit beta-3ATPase, Na+/K+ transporting, beta 3 polypeptideNa, K-ATPase beta-3 polypeptidesodium pump subunit beta-3sodium-potassium ATPase subunit beta 3 (non-catalytic)sodium/potassium-dependent ATPase subunitrhodopsin kinase GRK7g protein-coupled receptor kinase GRK7rhodopsin kinase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000462082, ENST00000539728, 
ENST00000286371, ENST00000484727, 
ENST00000264952, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 3 X 1=3
# samples 53
** MAII scorelog2(5/18*10)=1.47393118833241
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/3*10)=3.32192809488736
Context

PubMed: ATP1B3 [Title/Abstract] AND GRK7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP1B3(141595752)-GRK7(141526487), # samples:2
Anticipated loss of major functional domain due to fusion event.ATP1B3-GRK7 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATP1B3-GRK7 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP1B3-GRK7 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP1B3-GRK7 seems lost the major protein functional domain in Tgene partner, which is a kinase 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
HgeneATP1B3

GO:0006883

cellular sodium ion homeostasis

10636900|19542013

HgeneATP1B3

GO:0030007

cellular potassium ion homeostasis

10636900|19542013

HgeneATP1B3

GO:0032781

positive regulation of ATPase activity

10636900

HgeneATP1B3

GO:0036376

sodium ion export across plasma membrane

10636900|19542013

HgeneATP1B3

GO:0050821

protein stabilization

10636900

HgeneATP1B3

GO:0072659

protein localization to plasma membrane

18522992

HgeneATP1B3

GO:0086009

membrane repolarization

19542013

HgeneATP1B3

GO:1901018

positive regulation of potassium ion transmembrane transporter activity

10636900

HgeneATP1B3

GO:1903278

positive regulation of sodium ion export across plasma membrane

10636900

HgeneATP1B3

GO:1903288

positive regulation of potassium ion import

10636900

HgeneATP1B3

GO:1990573

potassium ion import across plasma membrane

10636900|19542013


check buttonFusion gene breakpoints across ATP1B3 (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 GRK7 (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
ChimerDB4LUSCTCGA-33-AASJ-01AATP1B3chr3

141634862

+GRK7chr3

141535556

+
ChimerDB4LUSCTCGA-66-2771-01AATP1B3chr3

141595752

+GRK7chr3

141499216

+
ChimerDB4LUSCTCGA-66-2792-01AATP1B3chr3

141595752

+GRK7chr3

141526487

+
ChimerDB4LUSCTCGA-66-2792ATP1B3chr3

141595752

+GRK7chr3

141526487

+


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Fusion Gene ORF analysis for ATP1B3-GRK7

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-3CDSENST00000462082ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141499216

+
5UTR-3CDSENST00000462082ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141526487

+
5UTR-3CDSENST00000539728ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141499216

+
5UTR-3CDSENST00000539728ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141526487

+
Frame-shiftENST00000286371ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141499216

+
Frame-shiftENST00000286371ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141526487

+
In-frameENST00000286371ENST00000264952ATP1B3chr3

141634862

+GRK7chr3

141535556

+
In-frameENST00000539728ENST00000264952ATP1B3chr3

141634862

+GRK7chr3

141535556

+
intron-3CDSENST00000462082ENST00000264952ATP1B3chr3

141634862

+GRK7chr3

141535556

+
intron-3CDSENST00000484727ENST00000264952ATP1B3chr3

141634862

+GRK7chr3

141535556

+
intron-3CDSENST00000484727ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141499216

+
intron-3CDSENST00000484727ENST00000264952ATP1B3chr3

141595752

+GRK7chr3

141526487

+

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 ATP1B3-GRK7


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)
ATP1B3chr3141634862+GRK7chr3141535555+2.11E-050.9999789
ATP1B3chr3141595752+GRK7chr3141499215+2.91E-091
ATP1B3chr3141595752+GRK7chr3141526486+9.21E-091
ATP1B3chr3141595752+GRK7chr3141526486+9.21E-091
ATP1B3chr3141634862+GRK7chr3141535555+2.11E-050.9999789
ATP1B3chr3141595752+GRK7chr3141499215+2.91E-091
ATP1B3chr3141595752+GRK7chr3141526486+9.21E-091
ATP1B3chr3141595752+GRK7chr3141526486+9.21E-091

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 ATP1B3-GRK7


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/chr3:141595752/chr3:141526487)
- 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
HgeneATP1B3chr3:141634862chr3:141535556ENST00000286371+571_35194280.0Topological domainCytoplasmic
HgeneATP1B3chr3:141634862chr3:141535556ENST00000286371+5736_56194280.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneGRK7chr3:141634862chr3:141535556ENST0000026495224455_520441554.0DomainAGC-kinase C-terminal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP1B3chr3:141634862chr3:141535556ENST00000286371+57186_279194280.0Regionimmunoglobulin-like
HgeneATP1B3chr3:141634862chr3:141535556ENST00000286371+5757_279194280.0Topological domainExtracellular
TgeneGRK7chr3:141634862chr3:141535556ENST0000026495224191_454441554.0DomainProtein kinase
TgeneGRK7chr3:141634862chr3:141535556ENST000002649522456_176441554.0DomainRGS
TgeneGRK7chr3:141634862chr3:141535556ENST0000026495224197_205441554.0Nucleotide bindingATP


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Fusion Gene Sequence for ATP1B3-GRK7


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 ATP1B3-GRK7


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 ATP1B3-GRK7


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 ATP1B3-GRK7


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