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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: 28257

FusionGeneSummary for PPM1H_PPM1H

check button Fusion gene summary
Fusion gene informationFusion gene name: PPM1H_PPM1H
Fusion gene ID: 28257
HgeneTgene
Gene symbol

PPM1H

PPM1H

Gene ID

57460

57460

Gene nameprotein phosphatase, Mg2+/Mn2+ dependent 1Hprotein phosphatase, Mg2+/Mn2+ dependent 1H
SynonymsARHCL1|NERPP-2C|URCC2ARHCL1|NERPP-2C|URCC2
Cytomap

12q14.1-q14.2

12q14.1-q14.2

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1Hneurite extension-related protein phosphatase related to PP2Cprotein phosphatase 1H (PP2C domain containing)ras homolog gene family, member C like 1protein phosphatase 1Hneurite extension-related protein phosphatase related to PP2Cprotein phosphatase 1H (PP2C domain containing)ras homolog gene family, member C like 1
Modification date2018051920180519
UniProtAcc

Q9ULR3

Q9ULR3

Ensembl transtripts involved in fusion geneENST00000228705, ENST00000551214, 
ENST00000228705, ENST00000551214, 
Fusion gene scores* DoF score16 X 11 X 8=14087 X 7 X 5=245
# samples 168
** MAII scorelog2(16/1408*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPM1H [Title/Abstract] AND PPM1H [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

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
ChiTaRS3.1DN914850PPM1Hchr12

63053669

-PPM1Hchr12

63056403

-
ChiTaRS3.1AU155021PPM1Hchr12

63041592

-PPM1Hchr12

63042214

+
* 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-intronENST00000228705ENST00000228705PPM1Hchr12

63053669

-PPM1Hchr12

63056403

-
intron-intronENST00000228705ENST00000551214PPM1Hchr12

63053669

-PPM1Hchr12

63056403

-
intron-intronENST00000551214ENST00000228705PPM1Hchr12

63053669

-PPM1Hchr12

63056403

-
intron-intronENST00000551214ENST00000551214PPM1Hchr12

63053669

-PPM1Hchr12

63056403

-
intron-3UTRENST00000228705ENST00000228705PPM1Hchr12

63041592

-PPM1Hchr12

63042214

+
intron-intronENST00000228705ENST00000551214PPM1Hchr12

63041592

-PPM1Hchr12

63042214

+
intron-3UTRENST00000551214ENST00000228705PPM1Hchr12

63041592

-PPM1Hchr12

63042214

+
intron-intronENST00000551214ENST00000551214PPM1Hchr12

63041592

-PPM1Hchr12

63042214

+

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FusionProtFeatures for PPM1H_PPM1H


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPM1H

Q9ULR3

PPM1H

Q9ULR3

Dephosphorylates CDKN1B at 'Thr-187', thus removing asignal for proteasomal degradation. {ECO:0000269|PubMed:22586611}. Dephosphorylates CDKN1B at 'Thr-187', thus removing asignal for proteasomal degradation. {ECO:0000269|PubMed:22586611}.

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 PPM1H_PPM1H


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 PPM1H_PPM1H


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 PPM1H_PPM1H


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 PPM1H_PPM1H


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