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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: 28534

FusionGeneSummary for PPP6R3_ATP6V0D2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP6R3_ATP6V0D2
Fusion gene ID: 28534
HgeneTgene
Gene symbol

PPP6R3

ATP6V0D2

Gene ID

55291

245972

Gene nameprotein phosphatase 6 regulatory subunit 3ATPase H+ transporting V0 subunit d2
SynonymsC11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3ATP6D2|VMA6
Cytomap

11q13.2

8q21.3

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPLV-type proton ATPase subunit d 2ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2V-ATPase subunit d 2vacuolar proton pump subunit d 2
Modification date2018052020180523
UniProtAcc

Q5H9R7

Q8N8Y2

Ensembl transtripts involved in fusion geneENST00000393799, ENST00000530427, 
ENST00000393800, ENST00000534534, 
ENST00000524845, ENST00000265637, 
ENST00000524904, ENST00000393801, 
ENST00000265636, ENST00000529710, 
ENST00000527403, 
ENST00000285393, 
Fusion gene scores* DoF score18 X 11 X 10=19802 X 2 X 2=8
# samples 282
** MAII scorelog2(28/1980*10)=-2.82200169802201
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PPP6R3 [Title/Abstract] AND ATP6V0D2 [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
HgenePPP6R3

GO:0043666

regulation of phosphoprotein phosphatase activity

16716191


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
TCGALDSARCTCGA-K1-A6RT-01APPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
* 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
5UTR-5UTRENST00000393799ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
3UTR-5UTRENST00000530427ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000393800ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000534534ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000524845ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000265637ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000524904ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000393801ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000265636ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
5UTR-5UTRENST00000529710ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+
intron-5UTRENST00000527403ENST00000285393PPP6R3chr11

68228295

+ATP6V0D2chr8

87111133

+

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FusionProtFeatures for PPP6R3_ATP6V0D2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP6R3

Q5H9R7

ATP6V0D2

Q8N8Y2

Subunit of the integral membrane V0 complex of vacuolarATPase. Vacuolar ATPase is responsible for acidifying a variety ofintracellular compartments in eukaryotic cells, thus providingmost of the energy required for transport processes in thevacuolar system. May play a role in coupling of proton transportand ATP hydrolysis (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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FusionGeneSequence for PPP6R3_ATP6V0D2


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 PPP6R3_ATP6V0D2


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
PPP6R3KDM6A, TNFAIP3, USP21, USP36, USP49, PPP6C, PRKDC, HDAC1, HDAC2, ELAVL1, SIRT7, TERF2IP, TINF2, TFAP4, GRK5, PFAS, BRCA1, ECT2, NOTCH1, LATS1, GPSM1, HDAC11, USP10, ANKRD28, MOB1A, MOB1B, ACAD11, ANKRD44, ANKRD52, AP1B1, AP2A1, AP2A2, AURKA, DNAJC11, ECH1, ERLIN2, PPP6R1, PPP6R2, CDC37, ENAH, ETFA, HSP90AA1, HSP90AB1, RUVBL2, SRRT, TPM1, USP7, CSNK1E, SNAI2, RNF2, GPHA2, RPS6KB2, UNK, DIEXF, NSUN5, EIF4A3, TIPRL, NTRK1, CEP44, CEP19, XPO1, ZNRF2, ZNF746, TRMT2A, TRIM25, TESATP6V0D2ADRM1, AGO3, NDUFB8, RPS3, RBM15B, ATP6AP2, TMEM185A, ATP6V1B1, ATP6V0A2, ATP6V0D1, VMA21, TMEM199, TCIRG1, CCDC115, ATP6V0A1, ATP6V0C, FKBP15, KIAA2013


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 PPP6R3_ATP6V0D2


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 PPP6R3_ATP6V0D2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATP6V0D2C0029927Ovarian Cysts1CTD_human
TgeneATP6V0D2C0038356Stomach Neoplasms1CTD_human