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Fusion gene ID: 27688 |
FusionGeneSummary for PLK1_HDLBP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLK1_HDLBP | Fusion gene ID: 27688 | Hgene | Tgene | Gene symbol | PLK1 | HDLBP | Gene ID | 5347 | 3069 |
| Gene name | polo like kinase 1 | high density lipoprotein binding protein | |
| Synonyms | PLK|STPK13 | HBP|PRO2900|VGL | |
| Cytomap | 16p12.2 | 2q37.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase PLK1PLK-1cell cycle regulated protein kinasepolo (Drosophia)-like kinaseserine/threonine-protein kinase 13 | vigilinHDL-binding protein | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P53350 | Q00341 | |
| Ensembl transtripts involved in fusion gene | ENST00000300093, ENST00000564202, | ENST00000391976, ENST00000310931, ENST00000391975, ENST00000427183, ENST00000476807, | |
| Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 15 X 14 X 6=1260 |
| # samples | 4 | 16 | |
| ** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/1260*10)=-2.97727992349992 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PLK1 [Title/Abstract] AND HDLBP [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 | PLK1 | GO:0000086 | G2/M transition of mitotic cell cycle | 19160488 |
| Hgene | PLK1 | GO:0000278 | mitotic cell cycle | 18615013 |
| Hgene | PLK1 | GO:0000281 | mitotic cytokinesis | 19468302 |
| Hgene | PLK1 | GO:0001578 | microtubule bundle formation | 12939256 |
| Hgene | PLK1 | GO:0006468 | protein phosphorylation | 19468300|20679239|22701722 |
| Hgene | PLK1 | GO:0016567 | protein ubiquitination | 16885022 |
| Hgene | PLK1 | GO:0018105 | peptidyl-serine phosphorylation | 16885022 |
| Hgene | PLK1 | GO:0031648 | protein destabilization | 16885022 |
| Hgene | PLK1 | GO:0032465 | regulation of cytokinesis | 17351640 |
| Hgene | PLK1 | GO:0045862 | positive regulation of proteolysis | 16885022 |
| Hgene | PLK1 | GO:0071168 | protein localization to chromatin | 21111234 |
| Hgene | PLK1 | GO:0072425 | signal transduction involved in G2 DNA damage checkpoint | 18662541 |
| Hgene | PLK1 | GO:1901673 | regulation of mitotic spindle assembly | 22621898 |
| Hgene | PLK1 | GO:1904668 | positive regulation of ubiquitin protein ligase activity | 15148369 |
| 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 | AI476705 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| * 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-intron | ENST00000300093 | ENST00000391976 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000300093 | ENST00000310931 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000300093 | ENST00000391975 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000300093 | ENST00000427183 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000300093 | ENST00000476807 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000564202 | ENST00000391976 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000564202 | ENST00000310931 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000564202 | ENST00000391975 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000564202 | ENST00000427183 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
| intron-intron | ENST00000564202 | ENST00000476807 | PLK1 | chr16 | 23701832 | + | HDLBP | chr2 | 242191427 | + |
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FusionProtFeatures for PLK1_HDLBP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLK1 | HDLBP |
| Serine/threonine-protein kinase that performs severalimportant functions throughout M phase of the cell cycle,including the regulation of centrosome maturation and spindleassembly, the removal of cohesins from chromosome arms, theinactivation of anaphase-promoting complex/cyclosome (APC/C)inhibitors, and the regulation of mitotic exit and cytokinesis.Polo-like kinase proteins acts by binding and phosphorylatingproteins are that already phosphorylated on a specific motifrecognized by the POLO box domains. Phosphorylates BORA,BUB1B/BUBR1, CCNB1, CDC25C, CEP55, ECT2, ERCC6L, FBXO5/EMI1,FOXM1, KIF20A/MKLP2, CENPU, NEDD1, NINL, NPM1, NUDC, PKMYT1/MYT1,KIZ, PPP1R12A/MYPT1, PRC1, RACGAP1/CYK4, SGO1, STAG2/SA2, TEX14,TOPORS, p73/TP73, TPT1, WEE1 and HNRNPU. Plays a key role incentrosome functions and the assembly of bipolar spindles byphosphorylating KIZ, NEDD1 and NINL. NEDD1 phosphorylationpromotes subsequent targeting of the gamma-tubulin ring complex(gTuRC) to the centrosome, an important step for spindleformation. Phosphorylation of NINL component of the centrosomeleads to NINL dissociation from other centrosomal proteins.Involved in mitosis exit and cytokinesis by phosphorylating CEP55,ECT2, KIF20A/MKLP2, CENPU, PRC1 and RACGAP1. Recruited at thecentral spindle by phosphorylating and docking PRC1 andKIF20A/MKLP2; creates its own docking sites on PRC1 andKIF20A/MKLP2 by mediating phosphorylation of sites subsequentlyrecognized by the POLO box domains. Phosphorylates RACGAP1,thereby creating a docking site for the Rho GTP exchange factorECT2 that is essential for the cleavage furrow formation. Promotesthe central spindle recruitment of ECT2. Plays a central role inG2/M transition of mitotic cell cycle by phosphorylating CCNB1,CDC25C, FOXM1, CENPU, PKMYT1/MYT1, PPP1R12A/MYPT1 and WEE1. Partof a regulatory circuit that promotes the activation of CDK1 byphosphorylating the positive regulator CDC25C and inhibiting thenegative regulators WEE1 and PKMYT1/MYT1. Also acts by mediatingphosphorylation of cyclin-B1 (CCNB1) on centrosomes in prophase.Phosphorylates FOXM1, a key mitotic transcription regulator,leading to enhance FOXM1 transcriptional activity. Involved inkinetochore functions and sister chromatid cohesion byphosphorylating BUB1B/BUBR1, FBXO5/EMI1 and STAG2/SA2. PLK1 ishigh on non-attached kinetochores suggesting a role of PLK1 inkinetochore attachment or in spindle assembly checkpoint (SAC)regulation. Required for kinetochore localization of BUB1B.Regulates the dissociation of cohesin from chromosomes byphosphorylating cohesin subunits such as STAG2/SA2. PhosphorylatesSGO1: required for spindle pole localization of isoform 3 of SGO1and plays a role in regulating its centriole cohesion function.Mediates phosphorylation of FBXO5/EMI1, a negative regulator ofthe APC/C complex during prophase, leading to FBXO5/EMI1ubiquitination and degradation by the proteasome. Acts as anegative regulator of p53 family members: phosphorylates TOPORS,leading to inhibit the sumoylation of p53/TP53 and simultaneouslyenhance the ubiquitination and subsequent degradation of p53/TP53.Phosphorylates the transactivation domain of the transcriptionfactor p73/TP73, leading to inhibit p73/TP73-mediatedtranscriptional activation and pro-apoptotic functions.Phosphorylates BORA, and thereby promotes the degradation of BORA.Contributes to the regulation of AURKA function. Also required forrecovery after DNA damage checkpoint and entry into mitosis.Phosphorylates MISP, leading to stabilization of cortical andastral microtubule attachments required for proper spindlepositioning (PubMed:8991084, PubMed:11202906, PubMed:12207013,PubMed:12447691, PubMed:12524548, PubMed:12738781,PubMed:12852856, PubMed:12939256, PubMed:14532005,PubMed:14734534, PubMed:15070733, PubMed:15148369,PubMed:15469984, PubMed:16198290, PubMed:16247472,PubMed:16980960, PubMed:17081991, PubMed:17351640,PubMed:17376779, PubMed:17617734, PubMed:18174154,PubMed:18331714, PubMed:18418051, PubMed:18477460,PubMed:18521620, PubMed:18615013, PubMed:19160488,PubMed:19351716, PubMed:19468300, PubMed:19468302,PubMed:19473992, PubMed:19509060, PubMed:19597481,PubMed:23455478, PubMed:23509069). Together with MEIKIN, acts as aregulator of kinetochore function during meiosis I: required bothfor mono-orientation of kinetochores on sister chromosomes andprotection of centromeric cohesin from separase-mediated cleavage(By similarity). Phosphorylates CEP68 and is required for itsdegradation (PubMed:25503564). Regulates nuclear envelopebreakdown during prophase by phosphorylating DCTN1 resulting inits localization in the nuclear envelope (PubMed:20679239).Phosphorylates the heat shock transcription factor HSF1, promotingHSF1 nuclear translocation upon heat shock (PubMed:15661742).Phosphorylates HSF1 also in the early mitotic period; thisphosphorylation regulates HSF1 localization to the spindle pole,the recruitment of the SCF(BTRC) ubiquitin ligase complexinduicing HSF1 degradation, and hence mitotic progression(PubMed:18794143). Regulates mitotic progression byphosphorylating RIOK2 (PubMed:21880710).{ECO:0000250|UniProtKB:Q5F2C3, ECO:0000269|PubMed:11202906,ECO:0000269|PubMed:12207013, ECO:0000269|PubMed:12447691,ECO:0000269|PubMed:12524548, ECO:0000269|PubMed:12738781,ECO:0000269|PubMed:12852856, ECO:0000269|PubMed:12939256,ECO:0000269|PubMed:14532005, ECO:0000269|PubMed:14734534,ECO:0000269|PubMed:15070733, ECO:0000269|PubMed:15148369,ECO:0000269|PubMed:15469984, ECO:0000269|PubMed:15661742,ECO:0000269|PubMed:16198290, ECO:0000269|PubMed:16247472,ECO:0000269|PubMed:16980960, ECO:0000269|PubMed:17081991,ECO:0000269|PubMed:17351640, ECO:0000269|PubMed:17376779,ECO:0000269|PubMed:17617734, ECO:0000269|PubMed:18174154,ECO:0000269|PubMed:18331714, ECO:0000269|PubMed:18418051,ECO:0000269|PubMed:18477460, ECO:0000269|PubMed:18521620,ECO:0000269|PubMed:18615013, ECO:0000269|PubMed:18794143,ECO:0000269|PubMed:19160488, ECO:0000269|PubMed:19351716,ECO:0000269|PubMed:19468300, ECO:0000269|PubMed:19468302,ECO:0000269|PubMed:19473992, ECO:0000269|PubMed:19509060,ECO:0000269|PubMed:19597481, ECO:0000269|PubMed:20679239,ECO:0000269|PubMed:21880710, ECO:0000269|PubMed:23455478,ECO:0000269|PubMed:23509069, ECO:0000269|PubMed:25503564,ECO:0000269|PubMed:25986610, ECO:0000269|PubMed:8991084}. | Appears to play a role in cell sterol metabolism. It mayfunction to protect cells from over-accumulation of cholesterol. |
| 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 PLK1_HDLBP |
| 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 PLK1_HDLBP |
| 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 PLK1_HDLBP |
| 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 PLK1_HDLBP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLK1 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | PLK1 | C0023418 | leukemia | 1 | CTD_human |
| Tgene | HDLBP | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | HDLBP | C2931817 | Chromosome 2q37 deletion syndrome | 1 | CTD_human |
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