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Fusion gene ID: 27200 |
FusionGeneSummary for PIK3CB_TSPO |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIK3CB_TSPO | Fusion gene ID: 27200 | Hgene | Tgene | Gene symbol | PIK3CB | TSPO | Gene ID | 5291 | 706 |
| Gene name | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | translocator protein | |
| Synonyms | P110BETA|PI3K|PI3KBETA|PIK3C1 | BPBS|BZRP|DBI|IBP|MBR|PBR|PBS|PKBS|PTBR|mDRC|pk18 | |
| Cytomap | 3q22.3 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoformPI3-kinase p110 subunit betaPI3-kinase subunit betaPI3K-betaPtdIns-3-kinase p110phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit betaphosphoinositid | translocator proteinbenzodiazepine peripheral binding sitemitochondrial benzodiazepine receptorperipheral-type benzodiazepine receptor | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P42338 | P30536 | |
| Ensembl transtripts involved in fusion gene | ENST00000477593, ENST00000544716, ENST00000289153, | ENST00000337554, ENST00000396265, ENST00000583777, ENST00000329563, | |
| Fusion gene scores | * DoF score | 11 X 8 X 9=792 | 3 X 3 X 2=18 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/792*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PIK3CB [Title/Abstract] AND TSPO [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 | PIK3CB | GO:0016310 | phosphorylation | 25327288 |
| 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 | BRCA | TCGA-EW-A1OZ-01A | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| * 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-5UTR | ENST00000477593 | ENST00000337554 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-intron | ENST00000477593 | ENST00000396265 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-intron | ENST00000477593 | ENST00000583777 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-5UTR | ENST00000477593 | ENST00000329563 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-5UTR | ENST00000544716 | ENST00000337554 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-intron | ENST00000544716 | ENST00000396265 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-intron | ENST00000544716 | ENST00000583777 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-5UTR | ENST00000544716 | ENST00000329563 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-5UTR | ENST00000289153 | ENST00000337554 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-intron | ENST00000289153 | ENST00000396265 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-intron | ENST00000289153 | ENST00000583777 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
| intron-5UTR | ENST00000289153 | ENST00000329563 | PIK3CB | chr3 | 138515305 | - | TSPO | chr22 | 43555216 | + |
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FusionProtFeatures for PIK3CB_TSPO |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIK3CB | TSPO |
| Phosphoinositide-3-kinase (PI3K) that phosphorylatesPtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate(PIP3). PIP3 plays a key role by recruiting PH domain-containingproteins to the membrane, including AKT1 and PDPK1, activatingsignaling cascades involved in cell growth, survival,proliferation, motility and morphology. Involved in the activationof AKT1 upon stimulation by G-protein coupled receptors (GPCRs)ligands such as CXCL12, sphingosine 1-phosphate, andlysophosphatidic acid. May also act downstream receptor tyrosinekinases. Required in different signaling pathways for stableplatelet adhesion and aggregation. Plays a role in plateletactivation signaling triggered by GPCRs, alpha-IIb/beta-3integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-basedactivation motif)-bearing receptors such as GP6. Regulates thestrength of adhesion of ITGA2B/ ITGB3 activated receptorsnecessary for the cellular transmission of contractile forces.Required for platelet aggregation induced by F2 (thrombin) andthromboxane A2 (TXA2). Has a role in cell survival. May have arole in cell migration. Involved in the early stage ofautophagosome formation. Modulates the intracellular level ofPtdIns3P (Phosphatidylinositol 3-phosphate) and activates PIK3C3kinase activity. May act as a scaffold, independently of its lipidkinase activity to positively regulate autophagy. May have a rolein insulin signaling as scaffolding protein in which the lipidkinase activity is not required. May have a kinase-independentfunction in regulating cell proliferation and in clathrin-mediatedendocytosis. Mediator of oncogenic signal in cell lines lackingPTEN. The lipid kinase activity is necessary for its role inoncogenic transformation. Required for the growth of ERBB2 and RASdriven tumors. {ECO:0000269|PubMed:18594509,ECO:0000269|PubMed:18755892, ECO:0000269|PubMed:21030680,ECO:0000269|PubMed:21383062}. | Can bind protoporphyrin IX and may play a role in thetransport of porphyrins and heme (By similarity). Promotes thetransport of cholesterol across mitochondrial membranes and mayplay a role in lipid metabolism (PubMed:24814875), but its precisephysiological role is controversial. It is apparently not requiredfor steroid hormone biosynthesis. Was initially identified asperipheral-type benzodiazepine receptor; can also bindisoquinoline carboxamides (PubMed:1847678). {ECO:0000250,ECO:0000269|PubMed:1847678, ECO:0000269|PubMed:24814875}. |
| 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 PIK3CB_TSPO |
| 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 PIK3CB_TSPO |
| 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 |
| PIK3CB | PRKCD, PIK3R1, PRKCE, ALK, DVL3, HPS6, ALAS1, RAB5A, CBL, PIK3R2, CRK, GAB2, GRB2, IRS1, EGFR, EFNB2, TGFBR2, PTGER3, PCBP1, NTRK1, AKT1, AKT2, PIK3R3, HCK, ERBB3, HAVCR2, FLRT1, NLGN3, CDH5, ZDHHC1, CHRM3, TMEM52B, CACNG5, IL20RA, RNF19B, RAPGEF5, MANSC1, P4HA2, DOCK5, WDR26, GNB1 | TSPO | BZRAP1, CREB3L1, ARF4, ATP5F1, CISD1, ATP5A1, ATP5L, ATP5O, VDAC1, VDAC2, VDAC3, CRABP1, SLC2A12, SLC5A8 |
| - 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 PIK3CB_TSPO |
| 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 | PIK3CB | P42338 | DB00201 | Caffeine | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform | small molecule | approved |
| Tgene | TSPO | P30536 | DB00186 | Lorazepam | Translocator protein | small molecule | approved |
| Tgene | TSPO | P30536 | DB01198 | Zopiclone | Translocator protein | small molecule | approved |
| Tgene | TSPO | P30536 | DB01587 | Ketazolam | Translocator protein | small molecule | approved |
| Tgene | TSPO | P30536 | DB01068 | Clonazepam | Translocator protein | small molecule | approved|illicit |
| Tgene | TSPO | P30536 | DB01544 | Flunitrazepam | Translocator protein | small molecule | approved|illicit |
| Tgene | TSPO | P30536 | DB00962 | Zaleplon | Translocator protein | small molecule | approved|illicit|investigational |
| Tgene | TSPO | P30536 | DB00829 | Diazepam | Translocator protein | small molecule | approved|illicit|investigational|vet_approved |
| Tgene | TSPO | P30536 | DB00231 | Temazepam | Translocator protein | small molecule | approved|investigational |
| Tgene | TSPO | P30536 | DB00402 | Eszopiclone | Translocator protein | small molecule | approved|investigational |
| Tgene | TSPO | P30536 | DB00897 | Triazolam | Translocator protein | small molecule | approved|investigational |
| Tgene | TSPO | P30536 | DB01178 | Chlormezanone | Translocator protein | small molecule | approved|investigational|withdrawn |
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RelatedDiseases for PIK3CB_TSPO |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PIK3CB | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | PIK3CB | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | TSPO | C0019151 | Hepatic Encephalopathy | 2 | CTD_human |
| Tgene | TSPO | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | TSPO | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | TSPO | C0745744 | End Stage Liver Disease | 1 | CTD_human |
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