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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:ATP2B4-TBC1D22A (FusionGDB2 ID:7878)

Fusion Gene Summary for ATP2B4-TBC1D22A

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2B4-TBC1D22A
Fusion gene ID: 7878
HgeneTgene
Gene symbol

ATP2B4

TBC1D22A

Gene ID

493

25771

Gene nameATPase plasma membrane Ca2+ transporting 4TBC1 domain family member 22A
SynonymsATP2B2|MXRA1|PMCA4|PMCA4b|PMCA4xC22orf4|HSC79E021
Cytomap

1q32.1

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionplasma membrane calcium-transporting ATPase 4ATPase, Ca++ transporting, plasma membrane 4matrix-remodeling-associated protein 1sarcolemmal calcium pumpTBC1 domain family member 22Aputative GTPase activator
Modification date2020032720200313
UniProtAcc

P23634

.
Ensembl transtripts involved in fusion geneENST00000357681, ENST00000367218, 
ENST00000367219, ENST00000391954, 
ENST00000341360, ENST00000466407, 
ENST00000337137, ENST00000355704, 
ENST00000380995, ENST00000406733, 
ENST00000407381, ENST00000472791, 
Fusion gene scores* DoF score14 X 5 X 8=56022 X 24 X 11=5808
# samples 1732
** MAII scorelog2(17/560*10)=-1.71989208080726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(32/5808*10)=-4.18189764310839
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2B4 [Title/Abstract] AND TBC1D22A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP2B4(203596347)-TBC1D22A(47569140), # samples:1
ATP2B4(203596347)-TBC1D22A(47569141), # 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
HgeneATP2B4

GO:0006874

cellular calcium ion homeostasis

19278978|25798335

HgeneATP2B4

GO:0010629

negative regulation of gene expression

25147342

HgeneATP2B4

GO:0010751

negative regulation of nitric oxide mediated signal transduction

19278978

HgeneATP2B4

GO:0016525

negative regulation of angiogenesis

25147342

HgeneATP2B4

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19278978

HgeneATP2B4

GO:0043537

negative regulation of blood vessel endothelial cell migration

25147342

HgeneATP2B4

GO:0045019

negative regulation of nitric oxide biosynthetic process

11591728|19278978

HgeneATP2B4

GO:0051001

negative regulation of nitric-oxide synthase activity

11591728|17242280|19278978|19287093

HgeneATP2B4

GO:0070885

negative regulation of calcineurin-NFAT signaling cascade

19287093|25147342

HgeneATP2B4

GO:0071872

cellular response to epinephrine stimulus

19278978

HgeneATP2B4

GO:0098736

negative regulation of the force of heart contraction

17242280

HgeneATP2B4

GO:0140199

negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process

17242280

HgeneATP2B4

GO:1900082

negative regulation of arginine catabolic process

19278978

HgeneATP2B4

GO:1901660

calcium ion export

25798335

HgeneATP2B4

GO:1902548

negative regulation of cellular response to vascular endothelial growth factor stimulus

25147342

HgeneATP2B4

GO:1903078

positive regulation of protein localization to plasma membrane

15955804

HgeneATP2B4

GO:1903249

negative regulation of citrulline biosynthetic process

19278978

HgeneATP2B4

GO:2000481

positive regulation of cAMP-dependent protein kinase activity

19278978


check buttonFusion gene breakpoints across ATP2B4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TBC1D22A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4STADTCGA-FP-8209-01AATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
ChimerDB4STADTCGA-FP-8209ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+


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Fusion Gene ORF analysis for ATP2B4-TBC1D22A

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-3CDSENST00000357681ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-3CDSENST00000357681ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-3CDSENST00000367218ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-3CDSENST00000367218ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-3CDSENST00000367219ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-3CDSENST00000367219ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-3CDSENST00000391954ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-3CDSENST00000391954ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000357681ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000357681ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000357681ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000357681ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000357681ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000357681ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000357681ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000357681ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000357681ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000357681ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367218ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367218ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367218ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367218ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367218ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367218ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367218ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367218ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367218ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367218ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367219ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367219ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367219ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367219ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367219ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367219ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367219ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367219ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000367219ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000367219ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000391954ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000391954ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000391954ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000391954ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000391954ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000391954ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000391954ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000391954ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
5UTR-intronENST00000391954ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
5UTR-intronENST00000391954ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-3CDSENST00000341360ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-3CDSENST00000341360ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-3CDSENST00000466407ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-3CDSENST00000466407ENST00000337137ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000341360ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000341360ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000341360ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000341360ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000341360ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000341360ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000341360ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000341360ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000341360ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000341360ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000466407ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000466407ENST00000355704ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000466407ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000466407ENST00000380995ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000466407ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000466407ENST00000406733ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000466407ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000466407ENST00000407381ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+
intron-intronENST00000466407ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569141

+
intron-intronENST00000466407ENST00000472791ATP2B4chr1

203596347

+TBC1D22Achr22

47569140

+

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 ATP2B4-TBC1D22A


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)
ATP2B4chr1203596347+TBC1D22Achr2247569140+1.33E-050.99998677
ATP2B4chr1203596347+TBC1D22Achr2247569140+1.33E-050.99998677
ATP2B4chr1203596347+TBC1D22Achr2247569140+1.33E-050.99998677
ATP2B4chr1203596347+TBC1D22Achr2247569140+1.33E-050.99998677

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.

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 ATP2B4-TBC1D22A


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/:203596347/:47569140)
- 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
ATP2B4

P23634

.
FUNCTION: Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity). {ECO:0000250|UniProtKB:Q6Q477, ECO:0000269|PubMed:8530416}.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 ATP2B4-TBC1D22A


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 ATP2B4-TBC1D22A


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 ATP2B4-TBC1D22A


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 ATP2B4-TBC1D22A


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