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Fusion gene ID: 27417 |
FusionGeneSummary for PKP3_SORL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PKP3_SORL1 | Fusion gene ID: 27417 | Hgene | Tgene | Gene symbol | PKP3 | SORL1 | Gene ID | 11187 | 6653 |
| Gene name | plakophilin 3 | sortilin related receptor 1 | |
| Synonyms | - | C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250 | |
| Cytomap | 11p15.5 | 11q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | plakophilin-3plakophilin 3b | sortilin-related receptorLDLR relative with 11 ligand-binding repeatslow-density lipoprotein receptor relative with 11 ligand-binding repeatsmosaic protein LR11sortilin-related receptor, L(DLR class) A repeats containingsorting protein-related recept | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9Y446 | Q92673 | |
| Ensembl transtripts involved in fusion gene | ENST00000331563, ENST00000530695, | ENST00000260197, ENST00000532451, ENST00000525532, ENST00000532694, ENST00000534286, ENST00000527934, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 11 X 10 X 6=660 |
| # samples | 3 | 10 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/660*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PKP3 [Title/Abstract] AND SORL1 [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 |
| Tgene | SORL1 | GO:0006605 | protein targeting | 16407538 |
| Tgene | SORL1 | GO:0006622 | protein targeting to lysosome | 24523320 |
| Tgene | SORL1 | GO:0006892 | post-Golgi vesicle-mediated transport | 17855360 |
| Tgene | SORL1 | GO:0014910 | regulation of smooth muscle cell migration | 14764453 |
| Tgene | SORL1 | GO:0032091 | negative regulation of protein binding | 16407538 |
| Tgene | SORL1 | GO:0034067 | protein localization to Golgi apparatus | 17855360 |
| Tgene | SORL1 | GO:0045053 | protein retention in Golgi apparatus | 17855360 |
| Tgene | SORL1 | GO:0045732 | positive regulation of protein catabolic process | 24523320 |
| Tgene | SORL1 | GO:0051604 | protein maturation | 17855360 |
| Tgene | SORL1 | GO:1902430 | negative regulation of amyloid-beta formation | 16407538|22621900 |
| Tgene | SORL1 | GO:1902960 | negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process | 16407538 |
| 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 |
| TCGA | LD | DLBC | TCGA-VB-A8QN-01A | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| * 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 |
| 5CDS-3UTR | ENST00000331563 | ENST00000260197 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| 5CDS-intron | ENST00000331563 | ENST00000532451 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| 5CDS-intron | ENST00000331563 | ENST00000525532 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| 5CDS-intron | ENST00000331563 | ENST00000532694 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| 5CDS-intron | ENST00000331563 | ENST00000534286 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| 5CDS-intron | ENST00000331563 | ENST00000527934 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| intron-3UTR | ENST00000530695 | ENST00000260197 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| intron-intron | ENST00000530695 | ENST00000532451 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| intron-intron | ENST00000530695 | ENST00000525532 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| intron-intron | ENST00000530695 | ENST00000532694 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| intron-intron | ENST00000530695 | ENST00000534286 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
| intron-intron | ENST00000530695 | ENST00000527934 | PKP3 | chr11 | 403771 | + | SORL1 | chr11 | 121502725 | + |
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FusionProtFeatures for PKP3_SORL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PKP3 | SORL1 |
| May play a role in junctional plaques. | Likely to be a multifunctional endocytic receptor, thatmay be implicated in the uptake of lipoproteins and of proteases.Binds LDL, the major cholesterol-carrying lipoprotein of plasma,and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cellinteraction. Involved in APP trafficking to and from the Golgiapparatus. It probably acts as a sorting receptor that protectsAPP from trafficking to late endosome and from processing intoamyloid beta, thereby reducing the burden of amyloidogenic peptideformation. Involved in the regulation of smooth muscle cellsmigration, probably through PLAUR binding and decreasedinternalization. {ECO:0000269|PubMed:14764453,ECO:0000269|PubMed:16174740}. |
| 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 PKP3_SORL1 |
| 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 PKP3_SORL1 |
| 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 |
| PKP3 | SFN, DSG1, DSG2, DSG3, DSC1, DSC2, DSC3, JUP, KRT18, DSP, SH3KBP1, RPA3, RPA2, RPA1, CCDC8, EED, MAST3, CIDEA, ELMOD1, B3GALNT1, ST6GALNAC3, CCDC51, DOLPP1, SGOL2, MAPK9, LACC1, SMARCD1, RBM24, XPO1, CLTC, MATR3, SEC16A, RBM8A, GTSE1, SNW1, CDH1, GDF5, KIF3A, GPBP1, OAZ3, FCF1, MAS1, CDK15, PDE4DIP, IL31RA, CPLX3, CCDC173, RHOBTB2, SYT16, CCDC82, FOXP2, NSMAF, CCNYL1, FBXL4, TRIM25, URI1 | SORL1 | LRPAP1, GGA1, GGA2, PPP1CA, CUL1, COPS5, COPS6, FBXO6, CFTR, DYRK3, POP1, AURKA, APP, PACS1, FAM76B, HLA-DPA1, RSPO1, LGALS8, FGL1, LGALS9, DLD, FOSL2, WISP3, SP6, ZFP41, FOXI2, ZNF354C, TYW3, ZNF563, ZNF224, ZNF408, ZNF331, EGFL6, ZNF169, FAM19A3, OS9, ZBBX, ZNF517, ZNF264, PSG1, SREBF1, MDK, SCGB1D1, ZNF816, FAM19A4, SOST, CDHR5, ZNF549, GCNT3, CEP97 |
| - 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 PKP3_SORL1 |
| 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 PKP3_SORL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PKP3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | SORL1 | C0008370 | Cholestasis | 1 | CTD_human |
| Tgene | SORL1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | SORL1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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