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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: 13294

FusionGeneSummary for FDPS_ATP13A2

check button Fusion gene summary
Fusion gene informationFusion gene name: FDPS_ATP13A2
Fusion gene ID: 13294
HgeneTgene
Gene symbol

FDPS

ATP13A2

Gene ID

2224

23400

Gene namefarnesyl diphosphate synthaseATPase cation transporting 13A2
SynonymsFPPS|FPS|POROK9CLN12|HSA9947|KRPPD|PARK9|SPG78
Cytomap

1q22

1p36.13

Type of geneprotein-codingprotein-coding
Descriptionfarnesyl pyrophosphate synthase(2E,6E)-farnesyl diphosphate synthaseFPP synthaseFPP synthetasefarnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferasecation-transporting ATPase 13A2ATPase 13A2ATPase type 13A2probable cation-transporting ATPase 13A2
Modification date2018052320180522
UniProtAcc

P14324

Q9NQ11

Ensembl transtripts involved in fusion geneENST00000447866, ENST00000368356, 
ENST00000487002, ENST00000356657, 
ENST00000326735, ENST00000341676, 
ENST00000452699, ENST00000502860, 
Fusion gene scores* DoF score4 X 4 X 2=322 X 2 X 1=4
# samples 42
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: FDPS [Title/Abstract] AND ATP13A2 [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
TgeneATP13A2

GO:0006874

cellular calcium ion homeostasis

22186024

TgeneATP13A2

GO:0010821

regulation of mitochondrion organization

22186024

TgeneATP13A2

GO:0016243

regulation of autophagosome size

22186024

TgeneATP13A2

GO:1902047

polyamine transmembrane transport

23205587

TgeneATP13A2

GO:1903543

positive regulation of exosomal secretion

24603074

TgeneATP13A2

GO:1905037

autophagosome organization

22186024


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
ChiTaRS3.1BF512311FDPSchr1

155290315

-ATP13A2chr1

17316435

+
* 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
In-frameENST00000447866ENST00000326735FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000447866ENST00000341676FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000447866ENST00000452699FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000447866ENST00000502860FDPSchr1

155290315

-ATP13A2chr1

17316435

+
Frame-shitENST00000368356ENST00000326735FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000368356ENST00000341676FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000368356ENST00000452699FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000368356ENST00000502860FDPSchr1

155290315

-ATP13A2chr1

17316435

+
intron-3CDSENST00000487002ENST00000326735FDPSchr1

155290315

-ATP13A2chr1

17316435

+
intron-intronENST00000487002ENST00000341676FDPSchr1

155290315

-ATP13A2chr1

17316435

+
intron-intronENST00000487002ENST00000452699FDPSchr1

155290315

-ATP13A2chr1

17316435

+
intron-intronENST00000487002ENST00000502860FDPSchr1

155290315

-ATP13A2chr1

17316435

+
Frame-shitENST00000356657ENST00000326735FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000356657ENST00000341676FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000356657ENST00000452699FDPSchr1

155290315

-ATP13A2chr1

17316435

+
5CDS-intronENST00000356657ENST00000502860FDPSchr1

155290315

-ATP13A2chr1

17316435

+

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FusionProtFeatures for FDPS_ATP13A2


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

P14324

ATP13A2

Q9NQ11

Key enzyme in isoprenoid biosynthesis which catalyzesthe formation of farnesyl diphosphate (FPP), a precursor forseveral classes of essential metabolites including sterols,dolichols, carotenoids, and ubiquinones. FPP also serves assubstrate for protein farnesylation and geranylgeranylation.Catalyzes the sequential condensation of isopentenyl pyrophosphatewith the allylic pyrophosphates, dimethylallyl pyrophosphate, andthen with the resultant geranylpyrophosphate to the ultimateproduct farnesyl pyrophosphate. ATPase that plays a role in intracellular cationhomeostasis and the maintenance of neuronal integrity(PubMed:22186024). Required for a proper lysosomal andmitochondrial maintenance (PubMed:22296644, PubMed:28137957).{ECO:0000269|PubMed:22186024, ECO:0000269|PubMed:22296644,ECO:0000269|PubMed:28137957}.

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 FDPS_ATP13A2


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.
>In-frame_FDPS_ENST00000447866_chr1_155290315_-_ATP13A2_ENST00000326735_chr1_17316435_+_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_FDPS_ENST00000447866_chr1_155290315_-_ATP13A2_ENST00000326735_chr1_17316435_+_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_FDPS_ENST00000447866_chr1_155290315_-_ATP13A2_ENST00000326735_chr1_17316435_+_0nt


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FusionGenePPI for FDPS_ATP13A2


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 FDPS_ATP13A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFDPSP14324DB00282PamidronateFarnesyl pyrophosphate synthasesmall moleculeapproved
HgeneFDPSP14324DB00399Zoledronic acidFarnesyl pyrophosphate synthasesmall moleculeapproved
HgeneFDPSP14324DB00630Alendronic acidFarnesyl pyrophosphate synthasesmall moleculeapproved
HgeneFDPSP14324DB00710IbandronateFarnesyl pyrophosphate synthasesmall moleculeapproved|investigational
HgeneFDPSP14324DB00884RisedronateFarnesyl pyrophosphate synthasesmall moleculeapproved|investigational

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RelatedDiseases for FDPS_ATP13A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFDPSC4225262POROKERATOSIS 9, MULTIPLE TYPES1UNIPROT
TgeneATP13A2C1847640KUFOR-RAKEB SYNDROME8CTD_human;ORPHANET;UNIPROT
TgeneATP13A2C0027877Neuronal Ceroid-Lipofuscinoses2CTD_human
TgeneATP13A2C0030567Parkinson Disease2CTD_human
TgeneATP13A2C0027746Nerve Degeneration1CTD_human
TgeneATP13A2C0030569Secondary Parkinson Disease1CTD_human
TgeneATP13A2C0677050Manganese Poisoning1CTD_human