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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:HKR1-ATP1A3 (FusionGDB2 ID:HG284459TG478)

Fusion Gene Summary for HKR1-ATP1A3

check button Fusion gene summary
Fusion gene informationFusion gene name: HKR1-ATP1A3
Fusion gene ID: hg284459tg478
HgeneTgene
Gene symbol

HKR1

ATP1A3

Gene ID

284459

478

Gene namezinc finger protein 875ATPase Na+/K+ transporting subunit alpha 3
SynonymsHKR1AHC2|ATP1A1|CAPOS|DYT12|RDP
Cytomap('HKR1')('ATP1A3')

19q13.12

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 875HKR1, GLI-Kruppel zinc finger family memberKrueppel-related zinc finger protein 1oncogene HKR1sodium/potassium-transporting ATPase subunit alpha-3ATPase, Na+/K+ transporting, alpha 3 polypeptideNa(+)/K(+) ATPase alpha(III) subunitNa(+)/K(+) ATPase alpha-3 subunitNa+, K+ activated adenosine triphosphatase alpha subunitNa+/K+ ATPase 3sodium pu
Modification date2020031320200313
UniProtAcc.

P13637

Ensembl transtripts involved in fusion geneENST00000589218, ENST00000544914, 
ENST00000591471, ENST00000324411, 
ENST00000392153, ENST00000541583, 
ENST00000586897, ENST00000589392, 
ENST00000591134, ENST00000591259, 
ENST00000591417, ENST00000592168, 
Fusion gene scores* DoF score10 X 6 X 7=4204 X 4 X 3=48
# samples 114
** MAII scorelog2(11/420*10)=-1.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: HKR1 [Title/Abstract] AND ATP1A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHKR1(37815167)-ATP1A3(42492714), # 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
TgeneATP1A3

GO:0006883

cellular sodium ion homeostasis

10636900

TgeneATP1A3

GO:0030007

cellular potassium ion homeostasis

10636900

TgeneATP1A3

GO:0036376

sodium ion export across plasma membrane

10636900

TgeneATP1A3

GO:1990573

potassium ion import across plasma membrane

10636900



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
ChimerDB4OVTCGA-25-1321-01AHKR1chr19

37815167

-ATP1A3chr19

42492714

-
ChimerDB4OVTCGA-25-1321-01AHKR1chr19

37815167

+ATP1A3chr19

42492714

-


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Fusion Gene ORF analysis for HKR1-ATP1A3

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-3CDSENST00000589218ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
3UTR-3CDSENST00000589218ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
3UTR-3CDSENST00000589218ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
3UTR-5UTRENST00000589218ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
3UTR-5UTRENST00000589218ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-3CDSENST00000544914ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-3CDSENST00000544914ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-3CDSENST00000544914ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-3CDSENST00000591471ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-3CDSENST00000591471ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-3CDSENST00000591471ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-5UTRENST00000544914ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-5UTRENST00000544914ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-5UTRENST00000591471ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
5UTR-5UTRENST00000591471ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000324411ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000324411ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000324411ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000392153ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000392153ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000392153ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000541583ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000541583ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000541583ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000586897ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000586897ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000586897ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000589392ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000589392ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000589392ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591134ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591134ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591134ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591259ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591259ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591259ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591417ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591417ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000591417ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000592168ENST00000302102HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000592168ENST00000543770HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-3CDSENST00000592168ENST00000545399HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000324411ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000324411ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000392153ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000392153ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000541583ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000541583ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000586897ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000586897ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000589392ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000589392ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000591134ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000591134ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000591259ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000591259ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000591417ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000591417ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000592168ENST00000468774HKR1chr19

37815167

+ATP1A3chr19

42492714

-
intron-5UTRENST00000592168ENST00000602133HKR1chr19

37815167

+ATP1A3chr19

42492714

-

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 HKR1-ATP1A3


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 HKR1-ATP1A3


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/:37815167/:42492714)
- 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
.ATP1A3

P13637

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: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.

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 HKR1-ATP1A3


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 HKR1-ATP1A3


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 HKR1-ATP1A3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATP1A3P13637DB01092OuabainInhibitorSmall moleculeApproved

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Related Diseases for HKR1-ATP1A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1868681DYSTONIA 126CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3553788ALTERNATING HEMIPLEGIA OF CHILDHOOD 26GENOMICS_ENGLAND;UNIPROT
TgeneC1832466CAPOS syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0338488Alternating hemiplegia of childhood3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0011570Mental Depression1PSYGENET
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0013421Dystonia1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC0178417Anhedonia1PSYGENET
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0242422Parkinsonian Disorders1CTD_human
TgeneC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
TgeneC0242698Ventricular Dysfunction, Left1CTD_human
TgeneC0393588Dystonia, Paroxysmal1CTD_human
TgeneC0393610Dystonia, Diurnal1CTD_human
TgeneC0751093Dystonia, Limb1CTD_human
TgeneC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
TgeneC0752098Autosomal Dominant Parkinsonism1CTD_human
TgeneC0752100Autosomal Recessive Parkinsonism1CTD_human
TgeneC0752101Parkinsonism, Experimental1CTD_human
TgeneC0752104Familial Juvenile Parkinsonism1CTD_human
TgeneC0752105Parkinsonism, Juvenile1CTD_human
TgeneC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC3549447ALTERNATING HEMIPLEGIA OF CHILDHOOD 11GENOMICS_ENGLAND