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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 27508

FusionGeneSummary for PLCG1_BPIFB1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLCG1_BPIFB1
Fusion gene ID: 27508
HgeneTgene
Gene symbol

PLCG1

BPIFB1

Gene ID

5335

92747

Gene namephospholipase C gamma 1BPI fold containing family B member 1
SynonymsNCKAP3|PLC-II|PLC1|PLC148|PLCgamma1C20orf114|LPLUNC1
Cytomap

20q12

20q11.21

Type of geneprotein-codingprotein-coding
Description1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-11-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-148PLC-gamma-1inositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphatidylinositol phospholipase CphosphoinositBPI 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 date2018052220180519
UniProtAcc

P19174

Q8TDL5

Ensembl transtripts involved in fusion geneENST00000244007, ENST00000373272, 
ENST00000373271, ENST00000608689, 
ENST00000253354, ENST00000464032, 
Fusion gene scores* DoF score4 X 3 X 3=362 X 1 X 2=4
# samples 42
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePLCG1

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

HgenePLCG1

GO:0045766

positive regulation of angiogenesis

20011604

HgenePLCG1

GO:0071364

cellular response to epidermal growth factor stimulus

17229814

TgeneBPIFB1

GO:0002227

innate immune response in mucosa

21900486

TgeneBPIFB1

GO:0034144

negative regulation of toll-like receptor 4 signaling pathway

21900486


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A2-A1FW-01APLCG1chr20

39766498

+BPIFB1chr20

31873839

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000244007ENST00000253354PLCG1chr20

39766498

+BPIFB1chr20

31873839

+
5CDS-intronENST00000244007ENST00000464032PLCG1chr20

39766498

+BPIFB1chr20

31873839

+
5CDS-5UTRENST00000373272ENST00000253354PLCG1chr20

39766498

+BPIFB1chr20

31873839

+
5CDS-intronENST00000373272ENST00000464032PLCG1chr20

39766498

+BPIFB1chr20

31873839

+
5CDS-5UTRENST00000373271ENST00000253354PLCG1chr20

39766498

+BPIFB1chr20

31873839

+
5CDS-intronENST00000373271ENST00000464032PLCG1chr20

39766498

+BPIFB1chr20

31873839

+
intron-5UTRENST00000608689ENST00000253354PLCG1chr20

39766498

+BPIFB1chr20

31873839

+
intron-intronENST00000608689ENST00000464032PLCG1chr20

39766498

+BPIFB1chr20

31873839

+

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FusionProtFeatures for PLCG1_BPIFB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLCG1

P19174

BPIFB1

Q8TDL5

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PLCG1_BPIFB1


check button 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 PLCG1_BPIFB1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PLCG1EEF1A1, 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, HNRNPKBPIFB1TMEM237, MTMR14, PCK2, DDX31, HBM, MLLT1, MLLT3, TIMM50, SNX27, ARHGAP12, ZCCHC17, CDKAL1, PTPN14, PTPN21


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PLCG1_BPIFB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PLCG1_BPIFB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLCG1C0005586Bipolar Disorder1PSYGENET
HgenePLCG1C0018923Hemangiosarcoma1CTD_human
HgenePLCG1C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
HgenePLCG1C0036920Sezary Syndrome1CTD_human
HgenePLCG1C0079773Lymphoma, T-Cell, Cutaneous1CTD_human