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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3354

FusionGeneSummary for ATP2B3_PSMD1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2B3_PSMD1
Fusion gene ID: 3354
HgeneTgene
Gene symbol

ATP2B3

PSMD1

Gene ID

492

5707

Gene nameATPase plasma membrane Ca2+ transporting 3proteasome 26S subunit, non-ATPase 1
SynonymsCFAP39|CLA2|OPCA|PMCA3|PMCA3a|SCAX1P112|Rpn2|S1
Cytomap

Xq28

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionplasma membrane calcium-transporting ATPase 3ATPase, Ca++ transporting, plasma membrane 3cilia and flagella associated protein 39plasma membrane calcium ATPaseplasma membrane calcium pump26S proteasome non-ATPase regulatory subunit 126S proteasome regulatory subunit RPN226S proteasome regulatory subunit S126S proteasome subunit p112proteasome (prosome, macropain) 26S subunit, non-ATPase, 1
Modification date2018052320180523
UniProtAcc

Q16720

Q99460

Ensembl transtripts involved in fusion geneENST00000349466, ENST00000370186, 
ENST00000393842, ENST00000359149, 
ENST00000263519, ENST00000370181, 
ENST00000460549, 
ENST00000373635, 
ENST00000308696, ENST00000409643, 
ENST00000488354, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 7 X 6=378
# samples 19
** MAII scorelog2(1/1*10)=3.32192809488736log2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2B3 [Title/Abstract] AND PSMD1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneATP2B3

GO:0051480

regulation of cytosolic calcium ion concentration

18029012

HgeneATP2B3

GO:1990034

calcium ion export across plasma membrane

18029012


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BU730843ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000349466ENST00000373635ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000349466ENST00000308696ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000349466ENST00000409643ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-intronENST00000349466ENST00000488354ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000370186ENST00000373635ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000370186ENST00000308696ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000370186ENST00000409643ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
5CDS-intronENST00000370186ENST00000488354ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
In-frameENST00000393842ENST00000373635ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
In-frameENST00000393842ENST00000308696ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
In-frameENST00000393842ENST00000409643ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
5CDS-intronENST00000393842ENST00000488354ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000359149ENST00000373635ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000359149ENST00000308696ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000359149ENST00000409643ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
5CDS-intronENST00000359149ENST00000488354ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000263519ENST00000373635ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000263519ENST00000308696ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000263519ENST00000409643ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-intronENST00000263519ENST00000488354ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000370181ENST00000373635ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000370181ENST00000308696ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
Frame-shitENST00000370181ENST00000409643ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
5CDS-intronENST00000370181ENST00000488354ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000460549ENST00000373635ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000460549ENST00000308696ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-3CDSENST00000460549ENST00000409643ATP2B3chrX

152835166

-PSMD1chr2

232030589

+
intron-intronENST00000460549ENST00000488354ATP2B3chrX

152835166

-PSMD1chr2

232030589

+

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FusionProtFeatures for ATP2B3_PSMD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP2B3

Q16720

PSMD1

Q99460

This magnesium-dependent enzyme catalyzes the hydrolysisof ATP coupled with the transport of calcium out of the cell.

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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FusionGeneSequence for ATP2B3_PSMD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ATP2B3_PSMD1


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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RelatedDrugs for ATP2B3_PSMD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ATP2B3_PSMD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP2B3C0001430Adenoma1CTD_human
HgeneATP2B3C0020428Hyperaldosteronism1CTD_human
HgeneATP2B3C0020538Hypertensive disease1CTD_human
HgeneATP2B3C0796205SPINOCEREBELLAR ATAXIA, X-LINKED 11UNIPROT