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Fusion gene ID: 27684 |
FusionGeneSummary for PLIN3_BRSK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLIN3_BRSK1 | Fusion gene ID: 27684 | Hgene | Tgene | Gene symbol | PLIN3 | BRSK1 | Gene ID | 10226 | 84446 |
| Gene name | perilipin 3 | BR serine/threonine kinase 1 | |
| Synonyms | M6PRBP1|PP17|TIP47 | hSAD1 | |
| Cytomap | 19p13.3 | 19q13.42 | |
| Type of gene | protein-coding | protein-coding | |
| Description | perilipin-347 kDa MPR-binding proteincargo selection protein TIP47mannose-6-phosphate receptor-binding protein 1placental protein 17tail-interacting protein, 47 kDtesticular tissue protein Li 114 | serine/threonine-protein kinase BRSK1BR serine/threonine-protein kinase 1SAD1 homologSAD1 kinaseSadB kinase short isoformbrain-selective kinase 1brain-specific serine/threonine-protein kinase 1protein kinase SAD1Aserine/threonine-protein kinase SA | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O60664 | Q8TDC3 | |
| Ensembl transtripts involved in fusion gene | ENST00000221957, ENST00000592528, ENST00000585479, | ENST00000590333, ENST00000309383, ENST00000585418, ENST00000326848, ENST00000588584, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 4 X 4=64 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PLIN3 [Title/Abstract] AND BRSK1 [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 | BRSK1 | GO:0006468 | protein phosphorylation | 15150265 |
| Tgene | BRSK1 | GO:0006974 | cellular response to DNA damage stimulus | 15150265 |
| Tgene | BRSK1 | GO:0007095 | mitotic G2 DNA damage checkpoint | 15150265 |
| Tgene | BRSK1 | GO:0009411 | response to UV | 15150265 |
| Tgene | BRSK1 | GO:0010212 | response to ionizing radiation | 15150265 |
| 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 | OV | TCGA-25-1322-01A | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| * 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 |
| 5UTR-3CDS | ENST00000221957 | ENST00000590333 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000221957 | ENST00000309383 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000221957 | ENST00000585418 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-intron | ENST00000221957 | ENST00000326848 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-intron | ENST00000221957 | ENST00000588584 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000592528 | ENST00000590333 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000592528 | ENST00000309383 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000592528 | ENST00000585418 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-intron | ENST00000592528 | ENST00000326848 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-intron | ENST00000592528 | ENST00000588584 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000585479 | ENST00000590333 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000585479 | ENST00000309383 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-3CDS | ENST00000585479 | ENST00000585418 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-intron | ENST00000585479 | ENST00000326848 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
| 5UTR-intron | ENST00000585479 | ENST00000588584 | PLIN3 | chr19 | 4867621 | - | BRSK1 | chr19 | 55812880 | + |
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FusionProtFeatures for PLIN3_BRSK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLIN3 | BRSK1 |
| Required for the transport of mannose 6-phosphatereceptors (MPR) from endosomes to the trans-Golgi network.{ECO:0000269|PubMed:9590177}. | Serine/threonine-protein kinase that plays a key role inpolarization of neurons and centrosome duplication. PhosphorylatesCDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Followingphosphorylation and activation by STK11/LKB1, acts as a keyregulator of polarization of cortical neurons, probably bymediating phosphorylation of microtubule-associated proteins suchas MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuronpolarization by mediating phosphorylation of WEE1 at 'Ser-642' inpost-mitotic neurons, leading to down-regulate WEE1 activity inpolarized neurons. In neurons, localizes to synaptic vesicles andplays a role in neurotransmitter release, possibly byphosphorylating RIMS1. Also acts as a positive regulator ofcentrosome duplication by mediating phosphorylation of gamma-tubulin (TUBG1 and TUBG2) at 'Ser-131', leading to translocationof gamma-tubulin and its associated proteins to the centrosome.Involved in the UV-induced DNA damage checkpoint response,probably by inhibiting CDK1 activity through phosphorylation andactivation of WEE1, and inhibition of CDC25B and CDC25C.{ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:15150265,ECO:0000269|PubMed:20026642, ECO:0000269|PubMed:21985311}. |
| 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 PLIN3_BRSK1 |
| 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 PLIN3_BRSK1 |
| 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 |
| PLIN3 | RAB9A, IGF2R, M6PR, PLIN3, SPG20, RHOBTB3, APP, IGBP1, CLNS1A, VMA21, PPP4R2, RHOA, DSG2, SMAD2, MAX, ADSL, ANKMY2, ANP32A, CALU, CBS, EIF4A3, LRSAM1, MTMR2, PDLIM5, AAMP, BTF3L4, CTPS2, DBNL, DHPS, HSF1, IPO11, IPO9, NPLOC4, P4HB, PARP6, PKM, RPRD1A, SRP9, UBA5, RAD23B, SRP14, UBA2, VAT1, WDR4, CMTM5, HCCS, MTCH2, VDAC1, TMEM43, PKMYT1, ATIC, DUT, EEF1A1, HN1, IMPA2, LGALS3, MAP2K1, GDI2, LGALS1, PHGDH, PPA1, PPA2, RAB1A, RAB1B, HIST1H2BG, MYC, ZSCAN26, LIPE, CDH1, VIPR2, C16orf58 | BRSK1 | PRKAA1, HSD17B7, BRCA1, PAK1 |
| - 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 PLIN3_BRSK1 |
| 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 |
| Hgene | PLIN3 | O60664 | DB01271 | Idursulfase | Perilipin-3 | biotech | approved |
| Hgene | PLIN3 | O60664 | DB01279 | Galsulfase | Perilipin-3 | biotech | approved|investigational |
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RelatedDiseases for PLIN3_BRSK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLIN3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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