Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ATP1A3-SOX4 (FusionGDB2 ID:HG478TG6659)

Fusion Gene Summary for ATP1A3-SOX4

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP1A3-SOX4
Fusion gene ID: hg478tg6659
HgeneTgene
Gene symbol

ATP1A3

SOX4

Gene ID

478

6659

Gene nameATPase Na+/K+ transporting subunit alpha 3SRY-box transcription factor 4
SynonymsAHC2|ATP1A1|CAPOS|DYT12|RDPCSS10|EVI16
Cytomap('ATP1A3')('SOX4')

19q13.2

6p22.3

Type of geneprotein-codingprotein-coding
Descriptionsodium/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 putranscription factor SOX-4SRY (sex determining region Y)-box 4SRY-box 4SRY-related HMG-box gene 4ecotropic viral integration site 16
Modification date2020031320200329
UniProtAcc

P13637

.
Ensembl transtripts involved in fusion geneENST00000302102, ENST00000468774, 
ENST00000543770, ENST00000545399, 
ENST00000602133, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 9 X 1=45
# samples 29
** MAII scorelog2(2/4*10)=2.32192809488736log2(9/45*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP1A3 [Title/Abstract] AND SOX4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP1A3(42470950)-SOX4(21596930), # 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
HgeneATP1A3

GO:0006883

cellular sodium ion homeostasis

10636900

HgeneATP1A3

GO:0030007

cellular potassium ion homeostasis

10636900

HgeneATP1A3

GO:0036376

sodium ion export across plasma membrane

10636900

HgeneATP1A3

GO:1990573

potassium ion import across plasma membrane

10636900

TgeneSOX4

GO:0006355

regulation of transcription, DNA-templated

7706298|16631117

TgeneSOX4

GO:0042769

DNA damage response, detection of DNA damage

19234109

TgeneSOX4

GO:0045893

positive regulation of transcription, DNA-templated

16631117|19147588

TgeneSOX4

GO:0045944

positive regulation of transcription by RNA polymerase II

19147588

TgeneSOX4

GO:2000761

positive regulation of N-terminal peptidyl-lysine acetylation

19234109



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


Top

Fusion Gene ORF analysis for ATP1A3-SOX4

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

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

Top

Fusion Genomic Features for ATP1A3-SOX4


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)


Top

Fusion Protein Features for ATP1A3-SOX4


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/:42470950/:21596930)
- 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: 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.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


Top

Fusion Gene Sequence for ATP1A3-SOX4


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.

Top

Fusion Gene PPI Analysis for ATP1A3-SOX4


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


Top

Related Drugs for ATP1A3-SOX4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATP1A3P13637DB01092OuabainInhibitorSmall moleculeApproved

Top

Related Diseases for ATP1A3-SOX4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP1A3C1868681DYSTONIA 126CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP1A3C3553788ALTERNATING HEMIPLEGIA OF CHILDHOOD 26GENOMICS_ENGLAND;UNIPROT
HgeneATP1A3C1832466CAPOS syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP1A3C0338488Alternating hemiplegia of childhood3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneATP1A3C0005586Bipolar Disorder2PSYGENET
HgeneATP1A3C0011570Mental Depression1PSYGENET
HgeneATP1A3C0011581Depressive disorder1PSYGENET
HgeneATP1A3C0013421Dystonia1CTD_human
HgeneATP1A3C0018801Heart failure1CTD_human
HgeneATP1A3C0018802Congestive heart failure1CTD_human
HgeneATP1A3C0023212Left-Sided Heart Failure1CTD_human
HgeneATP1A3C0029408Degenerative polyarthritis1CTD_human
HgeneATP1A3C0086743Osteoarthrosis Deformans1CTD_human
HgeneATP1A3C0178417Anhedonia1PSYGENET
HgeneATP1A3C0235527Heart Failure, Right-Sided1CTD_human
HgeneATP1A3C0242422Parkinsonian Disorders1CTD_human
HgeneATP1A3C0242423Ramsay Hunt Paralysis Syndrome1CTD_human
HgeneATP1A3C0242698Ventricular Dysfunction, Left1CTD_human
HgeneATP1A3C0393588Dystonia, Paroxysmal1CTD_human
HgeneATP1A3C0393610Dystonia, Diurnal1CTD_human
HgeneATP1A3C0751093Dystonia, Limb1CTD_human
HgeneATP1A3C0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
HgeneATP1A3C0752098Autosomal Dominant Parkinsonism1CTD_human
HgeneATP1A3C0752100Autosomal Recessive Parkinsonism1CTD_human
HgeneATP1A3C0752101Parkinsonism, Experimental1CTD_human
HgeneATP1A3C0752104Familial Juvenile Parkinsonism1CTD_human
HgeneATP1A3C0752105Parkinsonism, Juvenile1CTD_human
HgeneATP1A3C1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
HgeneATP1A3C1959583Myocardial Failure1CTD_human
HgeneATP1A3C1961112Heart Decompensation1CTD_human
HgeneATP1A3C3549447ALTERNATING HEMIPLEGIA OF CHILDHOOD 11GENOMICS_ENGLAND
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0036095Salivary Gland Neoplasms1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0220636Malignant neoplasm of salivary gland1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0265338Coffin-Siris syndrome1ORPHANET
TgeneC0266617Congenital anomaly of face1GENOMICS_ENGLAND
TgeneC0424503Dysmorphic facies1GENOMICS_ENGLAND
TgeneC0456070Growth delay1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1850049Clinodactyly of the 5th finger1GENOMICS_ENGLAND
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND