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Fusion gene ID: 28264 |
FusionGeneSummary for PPM1K_LRPPRC |
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Fusion gene information | Fusion gene name: PPM1K_LRPPRC | Fusion gene ID: 28264 | Hgene | Tgene | Gene symbol | PPM1K | LRPPRC | Gene ID | 152926 | 10128 |
Gene name | protein phosphatase, Mg2+/Mn2+ dependent 1K | leucine rich pentatricopeptide repeat containing | |
Synonyms | BDP|MSUDMV|PP2Ckappa|PP2Cm|PTMP|UG0882E07 | CLONE-23970|GP130|LRP130|LSFC | |
Cytomap | 4q22.1 | 2p21 | |
Type of gene | protein-coding | protein-coding | |
Description | protein phosphatase 1K, mitochondrialPP2C domain-containing protein phosphatase 1KPP2C-kappaPP2C-type mitochondrial phosphoprotein phosphatasebranched-chain I+/--ketoacid dehydrogenase phosphatasebranched-chain alpha-ketoacid dehydrogenase phosphatas | leucine-rich PPR motif-containing protein, mitochondrial130 kDa leucine-rich proteinLRP 130leucine-rich PPR-motif containingmitochondrial leucine-rich PPR motif-containing protein | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | Q8N3J5 | P42704 | |
Ensembl transtripts involved in fusion gene | ENST00000608933, ENST00000295908, ENST00000508256, ENST00000506423, ENST00000315194, ENST00000514204, | ENST00000260665, ENST00000409946, ENST00000409659, | |
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 6 X 6 X 1=36 |
# samples | 3 | 6 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF090448 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3UTR | ENST00000608933 | ENST00000260665 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000608933 | ENST00000409946 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000608933 | ENST00000409659 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-3UTR | ENST00000295908 | ENST00000260665 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000295908 | ENST00000409946 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000295908 | ENST00000409659 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-3UTR | ENST00000508256 | ENST00000260665 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000508256 | ENST00000409946 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000508256 | ENST00000409659 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-3UTR | ENST00000506423 | ENST00000260665 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000506423 | ENST00000409946 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000506423 | ENST00000409659 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-3UTR | ENST00000315194 | ENST00000260665 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000315194 | ENST00000409946 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000315194 | ENST00000409659 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-3UTR | ENST00000514204 | ENST00000260665 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000514204 | ENST00000409946 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
intron-intron | ENST00000514204 | ENST00000409659 | PPM1K | chr4 | 89182212 | - | LRPPRC | chr2 | 44115688 | - |
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FusionProtFeatures for PPM1K_LRPPRC |
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Hgene | Tgene |
PPM1K | LRPPRC |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PPM1K_LRPPRC |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PPM1K_LRPPRC |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PPM1K_LRPPRC |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | LRPPRC | C1857355 | Leigh syndrome , French Canadian type | 1 | CTD_human;ORPHANET;UNIPROT |