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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: 28229

FusionGeneSummary for PPM1D_ATP5G1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPM1D_ATP5G1
Fusion gene ID: 28229
HgeneTgene
Gene symbol

PPM1D

ATP5G1

Gene ID

8493

Gene nameprotein phosphatase, Mg2+/Mn2+ dependent 1D
SynonymsIDDGIP|PP2C-DELTA|WIP1
Cytomap

17q23.2

Type of geneprotein-coding
Descriptionprotein phosphatase 1Dprotein phosphatase 1D magnesium-dependent, delta isoformprotein phosphatase 2C delta isoformprotein phosphatase Wip1wild-type p53-induced phosphatase 1
Modification date20180519
UniProtAcc

O15297

Ensembl transtripts involved in fusion geneENST00000305921, ENST00000355938, 
ENST00000503641, ENST00000514808, 
ENST00000393366, ENST00000506855, 
ENST00000513781, 
Fusion gene scores* DoF score6 X 4 X 3=723 X 2 X 2=12
# samples 53
** MAII scorelog2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPM1D [Title/Abstract] AND ATP5G1 [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
HgenePPM1D

GO:0035970

peptidyl-threonine dephosphorylation

20801214


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
TCGALDBRCATCGA-E2-A14V-01APPM1Dchr17

58740412

+ATP5G1chr17

46970771

+
* 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
5CDS-5UTRENST00000305921ENST00000355938PPM1Dchr17

58740412

+ATP5G1chr17

46970771

+
5CDS-5UTRENST00000305921ENST00000503641PPM1Dchr17

58740412

+ATP5G1chr17

46970771

+
5CDS-5UTRENST00000305921ENST00000514808PPM1Dchr17

58740412

+ATP5G1chr17

46970771

+
5CDS-5UTRENST00000305921ENST00000393366PPM1Dchr17

58740412

+ATP5G1chr17

46970771

+
5CDS-5UTRENST00000305921ENST00000506855PPM1Dchr17

58740412

+ATP5G1chr17

46970771

+
5CDS-intronENST00000305921ENST00000513781PPM1Dchr17

58740412

+ATP5G1chr17

46970771

+

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FusionProtFeatures for PPM1D_ATP5G1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPM1D

O15297

ATP5G1

Involved in the negative regulation of p53 expression(PubMed:23242139). Required for the relief of p53-dependentcheckpoint mediated cell cycle arrest. Binds to anddephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 whichcontributes to the functional inactivation of these proteins(PubMed:15870257, PubMed:16311512). Mediates MAPK14dephosphorylation and inactivation (PubMed:21283629). Is also animportant regulator of global heterochromatin silencing andcritical in maintaining genome integrity (By similarity).{ECO:0000250|UniProtKB:Q9QZ67, ECO:0000269|PubMed:15870257,ECO:0000269|PubMed:16311512, ECO:0000269|PubMed:21283629,ECO:0000269|PubMed:23242139}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 PPM1D_ATP5G1


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 PPM1D_ATP5G1


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
PPM1DCDC5L, MDM2, H2AFX, RAD21, UBC, KDM1A, BEX2, CASZ1, DIRAS3, DKK3, EPSTI1, ERRFI1, GLCE, ITIH5, LYPD3, MRC2, NAT2, OSGIN1, RHOBTB2, WHSC1L1, KPNA2, KPNA3, KPNB1, NUP153, PSMD4, RANBP2, SPAG9, CHEK2ATP5G1TRIM69, TNFSF11, BTN3A2, POMK, B4GALT3, BRINP2, LRFN4, FUT3


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 PPM1D_ATP5G1


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 PPM1D_ATP5G1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPM1DC0017638Glioma1CTD_human
HgenePPM1DC0677866Brain Stem Neoplasms1CTD_human