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Fusion gene ID: 27492 |
FusionGeneSummary for PLCB3_BAD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLCB3_BAD | Fusion gene ID: 27492 | Hgene | Tgene | Gene symbol | PLCB3 | BAD | Gene ID | 5331 | 572 |
| Gene name | phospholipase C beta 3 | BCL2 associated agonist of cell death | |
| Synonyms | - | BBC2|BCL2L8 | |
| Cytomap | 11q13.1 | 11q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3PLC beta 3phosphoinositide phospholipase C-beta-3phospholipase C, beta 3 (phosphatidylinositol-specific) | bcl2-associated agonist of cell deathBCL-X/BCL-2 binding proteinBCL2-antagonist of cell death proteinBCL2-binding component 6BCL2-binding proteinbcl-2-binding component 6bcl-2-like protein 8bcl-XL/Bcl-2-associated death promoterbcl2 antagonist of | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q01970 | Q92934 | |
| Ensembl transtripts involved in fusion gene | ENST00000279230, ENST00000540288, ENST00000325234, | ENST00000394532, ENST00000309032, ENST00000544785, ENST00000394531, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 6 X 5 X 6=180 |
| # samples | 4 | 9 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/180*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PLCB3 [Title/Abstract] AND BAD [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | PLCB3 | GO:0003073 | regulation of systemic arterial blood pressure | 18468998 |
| Tgene | BAD | GO:0006915 | apoptotic process | 19667065 |
| Tgene | BAD | GO:0043065 | positive regulation of apoptotic process | 9388232 |
| Tgene | BAD | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 18402937 |
| Tgene | BAD | GO:0045862 | positive regulation of proteolysis | 18387192 |
| Tgene | BAD | GO:0046931 | pore complex assembly | 19667065|21081150 |
| Tgene | BAD | GO:0071316 | cellular response to nicotine | 18676776 |
| Tgene | BAD | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
| 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 | RV | BRCA | TCGA-A8-A06R-01A | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| * 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 |
| Frame-shift | ENST00000279230 | ENST00000394532 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| Frame-shift | ENST00000279230 | ENST00000309032 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| 5CDS-intron | ENST00000279230 | ENST00000544785 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| 5CDS-intron | ENST00000279230 | ENST00000394531 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| Frame-shift | ENST00000540288 | ENST00000394532 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| Frame-shift | ENST00000540288 | ENST00000309032 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| 5CDS-intron | ENST00000540288 | ENST00000544785 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| 5CDS-intron | ENST00000540288 | ENST00000394531 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| Frame-shift | ENST00000325234 | ENST00000394532 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| Frame-shift | ENST00000325234 | ENST00000309032 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| 5CDS-intron | ENST00000325234 | ENST00000544785 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
| 5CDS-intron | ENST00000325234 | ENST00000394531 | PLCB3 | chr11 | 64027706 | + | BAD | chr11 | 64039275 | - |
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FusionProtFeatures for PLCB3_BAD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLCB3 | BAD |
| The production of the second messenger moleculesdiacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) ismediated by activated phosphatidylinositol-specific phospholipaseC enzymes. | Promotes cell death. Successfully competes for thebinding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the levelof heterodimerization of these proteins with BAX. Can reverse thedeath repressor activity of Bcl-X(L), but not that of Bcl-2 (Bysimilarity). Appears to act as a link between growth factorreceptor signaling and the apoptotic pathways. {ECO:0000250}. |
| 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 PLCB3_BAD |
| 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 PLCB3_BAD |
| 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 |
| PLCB3 | TRPM7, SLC9A3R2, KRIT1, NAA16, SNTA1, XRCC5, MOV10, NXF1, SMYD3, SORT1, SYNCRIP, NEDD1, LPAR2, CDH1 | BAD | BCL2A1, MCL1, SFN, EWSR1, BCL2L2, BCL2L1, BCL2, YWHAQ, PRKCI, PIM2, YWHAE, YWHAB, YWHAH, S100A10, AKT1, PRKACA, RPS6KA1, RPS6KA5, YWHAZ, YWHAG, SUMO2, PPP1CA, BAX, SNCA, VCP, RAF1, PAK1, BRAF, ARAF, CREB3L3, CDKN1A, PRDX2, KEAP1, STEAP3, GIMAP5, PRKD1, PRKCE, NDUFA12, LIMK1, SORT1, SYNCRIP, APTX, CBY1 |
| - 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 PLCB3_BAD |
| 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 PLCB3_BAD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BAD | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Tgene | BAD | C0007787 | Transient Ischemic Attack | 1 | CTD_human |
| Tgene | BAD | C0023418 | leukemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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