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Fusion gene ID: 27508 |
FusionGeneSummary for PLCG1_BPIFB1 |
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Fusion gene information | Fusion gene name: PLCG1_BPIFB1 | Fusion gene ID: 27508 | Hgene | Tgene | Gene symbol | PLCG1 | BPIFB1 | Gene ID | 5335 | 92747 |
Gene name | phospholipase C gamma 1 | BPI fold containing family B member 1 | |
Synonyms | NCKAP3|PLC-II|PLC1|PLC148|PLCgamma1 | C20orf114|LPLUNC1 | |
Cytomap | 20q12 | 20q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-11-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-148PLC-gamma-1inositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphatidylinositol phospholipase Cphosphoinosit | BPI fold-containing family B member 1VEMSGPlong palate, lung and nasal epithelium carcinoma associated 1long palate, lung and nasal epithelium carcinoma-associated protein 1von Ebner minor salivary gland protein | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | P19174 | Q8TDL5 | |
Ensembl transtripts involved in fusion gene | ENST00000244007, ENST00000373272, ENST00000373271, ENST00000608689, | ENST00000253354, ENST00000464032, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 2 X 1 X 2=4 |
# samples | 4 | 2 | |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: PLCG1 [Title/Abstract] AND BPIFB1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PLCG1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 20011604 |
Hgene | PLCG1 | GO:0045766 | positive regulation of angiogenesis | 20011604 |
Hgene | PLCG1 | GO:0071364 | cellular response to epidermal growth factor stimulus | 17229814 |
Tgene | BPIFB1 | GO:0002227 | innate immune response in mucosa | 21900486 |
Tgene | BPIFB1 | GO:0034144 | negative regulation of toll-like receptor 4 signaling pathway | 21900486 |
![]() (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-A2-A1FW-01A | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-5UTR | ENST00000244007 | ENST00000253354 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
5CDS-intron | ENST00000244007 | ENST00000464032 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
5CDS-5UTR | ENST00000373272 | ENST00000253354 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
5CDS-intron | ENST00000373272 | ENST00000464032 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
5CDS-5UTR | ENST00000373271 | ENST00000253354 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
5CDS-intron | ENST00000373271 | ENST00000464032 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
intron-5UTR | ENST00000608689 | ENST00000253354 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
intron-intron | ENST00000608689 | ENST00000464032 | PLCG1 | chr20 | 39766498 | + | BPIFB1 | chr20 | 31873839 | + |
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FusionProtFeatures for PLCG1_BPIFB1 |
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Hgene | Tgene |
PLCG1 | BPIFB1 |
Mediates the production of the second messengermolecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate(IP3). Plays an important role in the regulation of intracellularsignaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such asPDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role inactin reorganization and cell migration.{ECO:0000269|PubMed:17229814}. |
![]() * 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 PLCG1_BPIFB1 |
![]() (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 PLCG1_BPIFB1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PLCG1 | EEF1A1, GIT1, SELE, DGKZ, PLD2, SRC, WAS, VAV1, KHDRBS1, GAB1, LCP2, SH3BP2, DOK1, KIT, GRB2, SHC1, NTRK1, RASA1, SYK, SHB, LAT, RHOA, PKN2, ALK, PDGFA, PDGFRB, PAK1, PTK2, PRKD1, ITK, SYNCRIP, FGFR1, ZAP70, PDGFRA, ARHGAP32, NTRK2, NTRK3, LAT2, SH2B3, RET, TRPM7, TNK1, ERBB2, FLT1, KDR, CBL, EGFR, GNB2L1, IRS2, PTPRJ, PICALM, SOS1, PECAM1, CD22, GHR, SOS2, TUB, MST1R, ABL1, GAB2, GSN, BAG3, LTK, PARK2, EPHB2, PLXNB1, PLXNB2, ARHGEF2, CAMK2A, EPOR, BLNK, IBTK, PML, NCAM1, NPM1, SPRY1, NTMT1, INSR, ERBB3, JAK1, JAK2, EHD4, GTF3C4, LIMD1, AASDHPPT, DPP7, RIC8A, RPL38, SARNP, UBR7, WDR61, PYGB, NXF1, AKT1, CAV1, MVB12B, GAS2L1, SNX11, TEKT2, LDLRAD4, CTPS1, MCMBP, NPEPL1, PFKP, RNF40, STRAP, UCHL5, SKIV2L, TIPRL, UNC45A, FGFR2, PLCG2, PTPN6, DOK2, NCKIPSD, CACNB3, KHDRBS2, RAB11A, CCDC120, TTC9B, KCNJ5, LZTS2, ZNF785, HNRNPK | BPIFB1 | TMEM237, MTMR14, PCK2, DDX31, HBM, MLLT1, MLLT3, TIMM50, SNX27, ARHGAP12, ZCCHC17, CDKAL1, PTPN14, PTPN21 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PLCG1_BPIFB1 |
![]() (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 PLCG1_BPIFB1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PLCG1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | PLCG1 | C0018923 | Hemangiosarcoma | 1 | CTD_human |
Hgene | PLCG1 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
Hgene | PLCG1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
Hgene | PLCG1 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |