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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: 28264

FusionGeneSummary for PPM1K_LRPPRC

check button Fusion gene summary
Fusion gene informationFusion gene name: PPM1K_LRPPRC
Fusion gene ID: 28264
HgeneTgene
Gene symbol

PPM1K

LRPPRC

Gene ID

152926

10128

Gene nameprotein phosphatase, Mg2+/Mn2+ dependent 1Kleucine rich pentatricopeptide repeat containing
SynonymsBDP|MSUDMV|PP2Ckappa|PP2Cm|PTMP|UG0882E07CLONE-23970|GP130|LRP130|LSFC
Cytomap

4q22.1

2p21

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1K, mitochondrialPP2C domain-containing protein phosphatase 1KPP2C-kappaPP2C-type mitochondrial phosphoprotein phosphatasebranched-chain I+/--ketoacid dehydrogenase phosphatasebranched-chain alpha-ketoacid dehydrogenase phosphatasleucine-rich PPR motif-containing protein, mitochondrial130 kDa leucine-rich proteinLRP 130leucine-rich PPR-motif containingmitochondrial leucine-rich PPR motif-containing protein
Modification date2018051920180522
UniProtAcc

Q8N3J5

P42704

Ensembl transtripts involved in fusion geneENST00000608933, ENST00000295908, 
ENST00000508256, ENST00000506423, 
ENST00000315194, ENST00000514204, 
ENST00000260665, ENST00000409946, 
ENST00000409659, 
Fusion gene scores* DoF score3 X 3 X 1=96 X 6 X 1=36
# samples 36
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/36*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPM1K [Title/Abstract] AND LRPPRC [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
ChiTaRS3.1BF090448PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
* 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-3UTRENST00000608933ENST00000260665PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000608933ENST00000409946PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000608933ENST00000409659PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-3UTRENST00000295908ENST00000260665PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000295908ENST00000409946PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000295908ENST00000409659PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-3UTRENST00000508256ENST00000260665PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000508256ENST00000409946PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000508256ENST00000409659PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-3UTRENST00000506423ENST00000260665PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000506423ENST00000409946PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000506423ENST00000409659PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-3UTRENST00000315194ENST00000260665PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000315194ENST00000409946PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000315194ENST00000409659PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-3UTRENST00000514204ENST00000260665PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000514204ENST00000409946PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-
intron-intronENST00000514204ENST00000409659PPM1Kchr4

89182212

-LRPPRCchr2

44115688

-

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FusionProtFeatures for PPM1K_LRPPRC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPM1K

Q8N3J5

LRPPRC

P42704

May play a role in RNA metabolism in both nuclei andmitochondria. In the nucleus binds to HNRPA1-associated poly(A)mRNAs and is part of nmRNP complexes at late stages of mRNAmaturation which are possibly associated with nuclear mRNA export.May bind mature mRNA in the nucleus outer membrane. Inmitochondria binds to poly(A) mRNA. Plays a role in translation orstability of mitochondrially encoded cytochrome c oxidase (COX)subunits. May be involved in transcription regulation. Cooperateswith PPARGC1A to regulate certain mitochondrially encoded genesand gluconeogenic genes and may regulate docking of PPARGC1A totranscription factors. Seems to be involved in the transcriptionregulation of the multidrug-related genes MDR1 and MVP. Part of anuclear factor that binds to the invMED1 element of MDR1 and MVPgene promoters. Binds single-stranded DNA (By similarity).{ECO:0000250, ECO:0000269|PubMed:11585913,ECO:0000269|PubMed:12832482, ECO:0000269|PubMed:15081402,ECO:0000269|PubMed:15139850, ECO:0000269|PubMed:15272088,ECO:0000269|PubMed:17050673}.

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 PPM1K_LRPPRC


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 PPM1K_LRPPRC


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 PPM1K_LRPPRC


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 PPM1K_LRPPRC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneLRPPRCC1857355Leigh syndrome , French Canadian type1CTD_human;ORPHANET;UNIPROT