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:ATP2A2-ATP2A2 (FusionGDB2 ID:HG488TG488)

Fusion Gene Summary for ATP2A2-ATP2A2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2A2-ATP2A2
Fusion gene ID: hg488tg488
HgeneTgene
Gene symbol

ATP2A2

ATP2A2

Gene ID

488

488

Gene nameATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SynonymsATP2B|DAR|DD|SERCA2ATP2B|DAR|DD|SERCA2
Cytomap('ATP2A2')('ATP2A2')

12q24.11

12q24.11

Type of geneprotein-codingprotein-coding
Descriptionsarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2calcium-transporting ATPase sarcoplasmic reticulum type, slowsarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2calcium-transporting ATPase sarcoplasmic reticulum type, slow
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000308664, ENST00000395494, 
ENST00000539276, ENST00000550248, 
ENST00000552636, 		ENST00000308664, 
ENST00000395494, ENST00000539276, 
ENST00000550248, ENST00000552636, 
Fusion gene scores* DoF score17 X 22 X 11=411419 X 23 X 6=2622
# samples 2723
** MAII scorelog2(27/4114*10)=-3.9295104814741
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(23/2622*10)=-3.51096191927738
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2A2 [Title/Abstract] AND ATP2A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP2A2(110738529)-ATP2A2(110739189), # samples:1
ATP2A2(110784658)-ATP2A2(110784627), # samples:1
ATP2A2(110783892)-ATP2A2(110787709), # samples:1
ATP2A2(110788610)-ATP2A2(110788539), # samples:1
ATP2A2(110778520)-ATP2A2(110764242), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP2A2-ATP2A2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP2A2-ATP2A2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneATP2A2

GO:0032469

endoplasmic reticulum calcium ion homeostasis

16402920

HgeneATP2A2

GO:0032470

positive regulation of endoplasmic reticulum calcium ion concentration

16402920

HgeneATP2A2

GO:0070588

calcium ion transmembrane transport

16402920

HgeneATP2A2

GO:1903515

calcium ion transport from cytosol to endoplasmic reticulum

16402920

TgeneATP2A2

GO:0032469

endoplasmic reticulum calcium ion homeostasis

16402920

TgeneATP2A2

GO:0032470

positive regulation of endoplasmic reticulum calcium ion concentration

16402920

TgeneATP2A2

GO:0070588

calcium ion transmembrane transport

16402920

TgeneATP2A2

GO:1903515

calcium ion transport from cytosol to endoplasmic reticulum

16402920



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 ATP2A2-ATP2A2

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 ATP2A2-ATP2A2


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 ATP2A2-ATP2A2


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/:110738529/:110739189)
- 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


Top

Fusion Gene Sequence for ATP2A2-ATP2A2


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 ATP2A2-ATP2A2


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 ATP2A2-ATP2A2


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

Top

Related Diseases for ATP2A2-ATP2A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP2A2C0022595Keratosis Follicularis12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP2A2C0265971Acrokeratosis Verruciformis of Hopf3CTD_human;ORPHANET;UNIPROT
HgeneATP2A2C0011570Mental Depression2PSYGENET
HgeneATP2A2C0011581Depressive disorder2PSYGENET
HgeneATP2A2C0473575Acantholytic Dyskeratotic Epidermal Nevus2CTD_human
HgeneATP2A2C0525045Mood Disorders2PSYGENET
HgeneATP2A2C0002152Alloxan Diabetes1CTD_human
HgeneATP2A2C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneATP2A2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneATP2A2C0018799Heart Diseases1CTD_human
HgeneATP2A2C0018800Cardiomegaly1CTD_human
HgeneATP2A2C0018801Heart failure1CTD_human
HgeneATP2A2C0018802Congestive heart failure1CTD_human;GENOMICS_ENGLAND
HgeneATP2A2C0023212Left-Sided Heart Failure1CTD_human
HgeneATP2A2C0027055Myocardial Reperfusion Injury1CTD_human
HgeneATP2A2C0036341Schizophrenia1PSYGENET
HgeneATP2A2C0038220Status Epilepticus1CTD_human
HgeneATP2A2C0038433Streptozotocin Diabetes1CTD_human
HgeneATP2A2C0206145Stunned Myocardium1CTD_human
HgeneATP2A2C0206146Myocardial Stunning1CTD_human
HgeneATP2A2C0235527Heart Failure, Right-Sided1CTD_human
HgeneATP2A2C0242698Ventricular Dysfunction, Left1CTD_human
HgeneATP2A2C0270823Petit mal status1CTD_human
HgeneATP2A2C0311335Grand Mal Status Epilepticus1CTD_human
HgeneATP2A2C0376416Hibernation, Myocardial1CTD_human
HgeneATP2A2C0393734Complex Partial Status Epilepticus1CTD_human
HgeneATP2A2C0751522Status Epilepticus, Subclinical1CTD_human
HgeneATP2A2C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneATP2A2C0751524Simple Partial Status Epilepticus1CTD_human
HgeneATP2A2C0853897Diabetic Cardiomyopathies1CTD_human
HgeneATP2A2C1383860Cardiac Hypertrophy1CTD_human
HgeneATP2A2C1959583Myocardial Failure1CTD_human
HgeneATP2A2C1961112Heart Decompensation1CTD_human
TgeneC0022595Keratosis Follicularis12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0265971Acrokeratosis Verruciformis of Hopf3CTD_human;ORPHANET;UNIPROT
TgeneC0011570Mental Depression2PSYGENET
TgeneC0011581Depressive disorder2PSYGENET
TgeneC0473575Acantholytic Dyskeratotic Epidermal Nevus2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human;GENOMICS_ENGLAND
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0206145Stunned Myocardium1CTD_human
TgeneC0206146Myocardial Stunning1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0242698Ventricular Dysfunction, Left1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0376416Hibernation, Myocardial1CTD_human
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human
TgeneC0853897Diabetic Cardiomyopathies1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human