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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: 26730

FusionGeneSummary for PEX6_PPP2R5D

check button Fusion gene summary
Fusion gene informationFusion gene name: PEX6_PPP2R5D
Fusion gene ID: 26730
HgeneTgene
Gene symbol

PEX6

PPP2R5D

Gene ID

5190

5528

Gene nameperoxisomal biogenesis factor 6protein phosphatase 2 regulatory subunit B'delta
SynonymsHMLR2|PAF-2|PAF2|PBD4A|PDB4B|PXAAA1B56D|B56delta|MRD35
Cytomap

6p21.1

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionperoxisome biogenesis factor 6peroxin-6peroxisomal AAA-type ATPase 1peroxisomal-type ATPase 1peroxisome assembly factor 2serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoformPP2A, B subunit, B' delta isoformPP2A, B subunit, B56 delta isoformPP2A, B subunit, PR61 delta isoformPP2A, B subunit, R5 delta isoformSerine/threonine protein phosphatase
Modification date2018052320180523
UniProtAcc

Q13608

Q14738

Ensembl transtripts involved in fusion geneENST00000304611, ENST00000244546, 
ENST00000485511, ENST00000394110, 
ENST00000472118, ENST00000461010, 
Fusion gene scores* DoF score2 X 2 X 1=44 X 2 X 2=16
# samples 23
** MAII scorelog2(2/4*10)=2.32192809488736log2(3/16*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PEX6 [Title/Abstract] AND PPP2R5D [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
TgenePPP2R5D

GO:0006470

protein dephosphorylation

24157919


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
TCGALDOVTCGA-13-1505-01APEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
* 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-frameENST00000304611ENST00000485511PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
In-frameENST00000304611ENST00000394110PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
In-frameENST00000304611ENST00000472118PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
5CDS-intronENST00000304611ENST00000461010PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
In-frameENST00000244546ENST00000485511PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
In-frameENST00000244546ENST00000394110PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
In-frameENST00000244546ENST00000472118PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+
5CDS-intronENST00000244546ENST00000461010PEX6chr6

42946007

-PPP2R5Dchr6

42957349

+

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FusionProtFeatures for PEX6_PPP2R5D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PEX6

Q13608

PPP2R5D

Q14738

Involved in peroxisome biosynthesis. Required forstability of the PTS1 receptor. Anchored by PEX26 to peroxisomemembranes, possibly to form heteromeric AAA ATPase complexesrequired for the import of proteins into peroxisomes. The B regulatory subunit might modulate substrateselectivity and catalytic activity, and also might direct thelocalization of the catalytic enzyme to a particular subcellularcompartment.

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
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+016523_5309571MotifSH3-binding%3B class I
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+016548_5659571MotifNuclear localization signal
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+014523_530-9497MotifSH3-binding%3B class I
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+014548_565-9497MotifNuclear localization signal
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+016523_5309603MotifSH3-binding%3B class I
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+016548_5659603MotifNuclear localization signal
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01637_529571RegionNote=8 X 2 AA approximate tandem repeats of Q-P
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01437_52-9497RegionNote=8 X 2 AA approximate tandem repeats of Q-P
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01637_529603RegionNote=8 X 2 AA approximate tandem repeats of Q-P
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01637_389571RepeatNote=1
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01639_409571RepeatNote=2
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01641_429571RepeatNote=3
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01643_449571RepeatNote=4
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01645_469571RepeatNote=5
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01647_489571RepeatNote=6%3B approximate
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01649_509571RepeatNote=7%3B approximate
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000394110+01651_529571RepeatNote=8
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01437_38-9497RepeatNote=1
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01439_40-9497RepeatNote=2
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01441_42-9497RepeatNote=3
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01443_44-9497RepeatNote=4
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01445_46-9497RepeatNote=5
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01447_48-9497RepeatNote=6%3B approximate
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01449_50-9497RepeatNote=7%3B approximate
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000461010+01451_52-9497RepeatNote=8
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01637_389603RepeatNote=1
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01639_409603RepeatNote=2
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01641_429603RepeatNote=3
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01643_449603RepeatNote=4
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01645_469603RepeatNote=5
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01647_489603RepeatNote=6%3B approximate
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01649_509603RepeatNote=7%3B approximate
TgenePPP2R5Dchr6:42946007chr6:42957349ENST00000485511+01651_529603RepeatNote=8

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePEX6chr6:42946007chr6:42957349ENST00000304611-117470_477294981Nucleotide bindingATP
HgenePEX6chr6:42946007chr6:42957349ENST00000304611-117744_751294981Nucleotide bindingATP


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FusionGeneSequence for PEX6_PPP2R5D


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 PEX6_PPP2R5D


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
PEX6PEX26, PEX1, CERS2, RPS14, RPL27A, TMEM25, PSMC3, THBS3, DKKL1, ENSA, KBTBD4, IMPDH1, CD79A, OLFM2PPP2R5DHAND2, PPFIA1, HAND1, ARL2, PPP4C, PPP2CA, PPP2R1A, PPP2CB, PPP2R1B, CHEK2, GSK3B, SOX2, YWHAB, ARPC2, NIF3L1, ARPC1B, DHPS, FEN1, GOPC, HECTD1, LPP, PRDX1, PRDX2, RANGAP1, RPA2, SH3GLB1, TPD52L2, USHBP1, FSD2, CLOCK, CSNK2B, DEC1, RORC, CRY2, CRY1, CSNK1E, BCAT1, DNASE2B, PPME1, FAM43A, WNT3A, PON2, CCNG1, DNAAF5, LARS, PFDN5, PPP2R2A, PPP2R2D, PPP2R5A, TTC27, PTPRF, RRM2, XPO6, NTRK1, CTR9, CCHCR1, CCDC61, DUSP19, PRR14, CCNG2, CELA3A, RAPGEF5, USP47, FBXL3, YBEY, BTBD6, RPS27, GPR37, PDDC1, BMP7, PPP1CA


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 PEX6_PPP2R5D


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 PEX6_PPP2R5D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePEX6C3553936PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)4UNIPROT
HgenePEX6C4225267HEIMLER SYNDROME 23UNIPROT
HgenePEX6C0043459Zellweger Syndrome2CTD_human;ORPHANET
HgenePEX6C1832200Peroxisome biogenesis disorders2CTD_human
HgenePEX6C3714756Intellectual Disability1CTD_human
TgenePPP2R5DC4225354MENTAL RETARDATION, AUTOSOMAL DOMINANT 351ORPHANET;UNIPROT