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Fusion gene ID: 26547 |
FusionGeneSummary for PDP1_APPL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDP1_APPL1 | Fusion gene ID: 26547 | Hgene | Tgene | Gene symbol | PDP1 | APPL1 | Gene ID | 54704 | 26060 |
| Gene name | pyruvate dehyrogenase phosphatase catalytic subunit 1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | |
| Synonyms | PDH|PDP|PDPC|PPM2A|PPM2C | APPL|DIP13alpha|MODY14 | |
| Cytomap | 8q22.1 | 3p14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pyruvate dehyrogenase phosphatase catalytic subunit 1PDP 1PDPC 1[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrialprotein phosphatase 2C, magnesium-dependent, catalytic subunitprotein phosphatase, Mg2+/Mn2+ dependent 2Apyruv | DCC-interacting protein 13-alphaAKT2 interactoradapter protein containing PH domain, PTB domain and leucine zipper motif 1adaptor protein containing pH domain, PTB domain and leucine zipper motif 1adaptor protein, phosphotyrosine interaction, PH domai | |
| Modification date | 20180519 | 20180528 | |
| UniProtAcc | Q9P0J1 | Q9UKG1 | |
| Ensembl transtripts involved in fusion gene | ENST00000523021, ENST00000297598, ENST00000520728, ENST00000396200, ENST00000517764, | ENST00000288266, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 2=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PDP1 [Title/Abstract] AND APPL1 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | PDP1 | GO:0035970 | peptidyl-threonine dephosphorylation | 20801214 |
| Tgene | APPL1 | GO:0008283 | cell proliferation | 15016378 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BG776390 | PDP1 | chr8 | 94930528 | + | APPL1 | chr3 | 57306893 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3UTR | ENST00000523021 | ENST00000288266 | PDP1 | chr8 | 94930528 | + | APPL1 | chr3 | 57306893 | + |
| intron-3UTR | ENST00000297598 | ENST00000288266 | PDP1 | chr8 | 94930528 | + | APPL1 | chr3 | 57306893 | + |
| intron-3UTR | ENST00000520728 | ENST00000288266 | PDP1 | chr8 | 94930528 | + | APPL1 | chr3 | 57306893 | + |
| intron-3UTR | ENST00000396200 | ENST00000288266 | PDP1 | chr8 | 94930528 | + | APPL1 | chr3 | 57306893 | + |
| intron-3UTR | ENST00000517764 | ENST00000288266 | PDP1 | chr8 | 94930528 | + | APPL1 | chr3 | 57306893 | + |
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FusionProtFeatures for PDP1_APPL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDP1 | APPL1 |
| Catalyzes the dephosphorylation and concomitantreactivation of the alpha subunit of the E1 component of thepyruvate dehydrogenase complex. {ECO:0000250}. | Adapter protein that interacts with proteins involved indifferent cellular signaling pathways. Required for the regulationof cell proliferation in response to extracellular signals from anearly endosomal compartment. Links Rab5 to nuclear signaltransduction. Involved in the regulation of the insulin receptorsignaling pathway. {ECO:0000269|PubMed:10490823,ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:26073777}. |
| Retention 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 . * 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 PDP1_APPL1 |
| 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 PDP1_APPL1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PDP1_APPL1 |
| Drugs targeting genes involved in this fusion gene. (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 PDP1_APPL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | APPL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | APPL1 | C4225299 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 | 1 | UNIPROT |
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