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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:ATP2A3-ZZEF1 (FusionGDB2 ID:HG489TG23140)

Fusion Gene Summary for ATP2A3-ZZEF1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2A3-ZZEF1
Fusion gene ID: hg489tg23140
HgeneTgene
Gene symbol

ATP2A3

ZZEF1

Gene ID

489

23140

Gene nameATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3zinc finger ZZ-type and EF-hand domain containing 1
SynonymsSERCA3ZZZ4
Cytomap('ATP2A3')('ZZEF1')

17p13.2

17p13.2

Type of geneprotein-codingprotein-coding
Descriptionsarcoplasmic/endoplasmic reticulum calcium ATPase 3ATPase, Ca(2+)-transporting, ubiquitousATPase, Ca++ transporting, ubiquitousSR Ca(2+)-ATPase 3adenosine triphosphatase, calciumcalcium pump 3calcium-translocating P-type ATPasesarco/endoplasmic retzinc finger ZZ-type and EF-hand domain-containing protein 1zinc finger, ZZ-type with EF hand domain 1
Modification date2020031320200313
UniProtAcc

Q93084

.
Ensembl transtripts involved in fusion geneENST00000309890, ENST00000352011, 
ENST00000359983, ENST00000397035, 
ENST00000397041, ENST00000397043, 
ENST00000397039, 
Fusion gene scores* DoF score2 X 3 X 2=1212 X 15 X 6=1080
# samples 315
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/1080*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2A3 [Title/Abstract] AND ZZEF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP2A3(3867468)-ZZEF1(3999994), # samples:2
Anticipated loss of major functional domain due to fusion event.ATP2A3-ZZEF1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP2A3-ZZEF1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneATP2A3

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

16725111

HgeneATP2A3

GO:0070059

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

16725111

HgeneATP2A3

GO:0070588

calcium ion transmembrane transport

9843705|11956212

HgeneATP2A3

GO:1903515

calcium ion transport from cytosol to endoplasmic reticulum

15028735



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
ChimerDB4STADTCGA-BR-A4PF-01AATP2A3chr17

3867468

-ZZEF1chr17

3999994

-


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Fusion Gene ORF analysis for ATP2A3-ZZEF1

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
5CDS-5UTRENST00000309890ENST00000574474ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
5CDS-5UTRENST00000352011ENST00000574474ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
5CDS-5UTRENST00000359983ENST00000574474ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
5CDS-5UTRENST00000397035ENST00000574474ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
5CDS-5UTRENST00000397041ENST00000574474ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
5CDS-5UTRENST00000397043ENST00000574474ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
5UTR-3CDSENST00000397039ENST00000381638ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
5UTR-5UTRENST00000397039ENST00000574474ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
Frame-shiftENST00000309890ENST00000381638ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
Frame-shiftENST00000352011ENST00000381638ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
Frame-shiftENST00000359983ENST00000381638ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
Frame-shiftENST00000397035ENST00000381638ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
Frame-shiftENST00000397041ENST00000381638ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-
Frame-shiftENST00000397043ENST00000381638ATP2A3chr17

3867468

-ZZEF1chr17

3999994

-

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 ATP2A3-ZZEF1


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 ATP2A3-ZZEF1


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/:3867468/:3999994)
- 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
ATP2A3

Q93084

.
FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction. {ECO:0000269|PubMed:11956212, ECO:0000269|PubMed:15028735}.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 ATP2A3-ZZEF1


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 ATP2A3-ZZEF1


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 ATP2A3-ZZEF1


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 ATP2A3-ZZEF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP2A3C0001430Adenoma1CTD_human
HgeneATP2A3C0002152Alloxan Diabetes1CTD_human
HgeneATP2A3C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneATP2A3C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneATP2A3C0038433Streptozotocin Diabetes1CTD_human
HgeneATP2A3C0205646Adenoma, Basal Cell1CTD_human
HgeneATP2A3C0205647Follicular adenoma1CTD_human
HgeneATP2A3C0205648Adenoma, Microcystic1CTD_human
HgeneATP2A3C0205649Adenoma, Monomorphic1CTD_human
HgeneATP2A3C0205650Papillary adenoma1CTD_human
HgeneATP2A3C0205651Adenoma, Trabecular1CTD_human