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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: 24155

FusionGeneSummary for NFAT5_PLCG2

check button Fusion gene summary
Fusion gene informationFusion gene name: NFAT5_PLCG2
Fusion gene ID: 24155
HgeneTgene
Gene symbol

NFAT5

PLCG2

Gene ID

10725

5336

Gene namenuclear factor of activated T cells 5phospholipase C gamma 2
SynonymsNF-AT5|NFATL1|NFATZ|OREBP|TONEBPAPLAID|FCAS3|PLC-IV|PLC-gamma-2
Cytomap

16q22.1

16q23.3

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor of activated T-cells 5NFAT-like protein 1T-cell transcription factor NFAT5TonE-binding proteinglutamine rich protein H65nuclear factor of activated T-cells 5, tonicity-responsiveosmotic response element-binding proteintonicity-respon1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2phosphoinositide phospholipase C-gamma-2phospholipase C, gamma 2 (phosphatidylinositol-specific)phospholipase C-IV
Modification date2018052320180519
UniProtAcc

O94916

P16885

Ensembl transtripts involved in fusion geneENST00000349945, ENST00000432919, 
ENST00000354436, ENST00000567239, 
ENST00000393742, ENST00000566899, 
ENST00000359376, ENST00000565400, 
Fusion gene scores* DoF score20 X 6 X 14=16801 X 1 X 1=1
# samples 211
** MAII scorelog2(21/1680*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NFAT5 [Title/Abstract] AND PLCG2 [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
HgeneNFAT5

GO:0045944

positive regulation of transcription by RNA polymerase II

11485737

TgenePLCG2

GO:0006661

phosphatidylinositol biosynthetic process

11606584|12181444

TgenePLCG2

GO:0051209

release of sequestered calcium ion into cytosol

11606584


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
TCGALDPRADTCGA-EJ-A8FO-01ANFAT5chr16

69600277

+PLCG2chr16

81789475

+
* 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
5UTR-intronENST00000349945ENST00000359376NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5UTR-intronENST00000349945ENST00000565400NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5CDS-intronENST00000432919ENST00000359376NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5CDS-intronENST00000432919ENST00000565400NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5CDS-intronENST00000354436ENST00000359376NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5CDS-intronENST00000354436ENST00000565400NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5CDS-intronENST00000567239ENST00000359376NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5CDS-intronENST00000567239ENST00000565400NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5UTR-intronENST00000393742ENST00000359376NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5UTR-intronENST00000393742ENST00000565400NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5UTR-intronENST00000566899ENST00000359376NFAT5chr16

69600277

+PLCG2chr16

81789475

+
5UTR-intronENST00000566899ENST00000565400NFAT5chr16

69600277

+PLCG2chr16

81789475

+

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FusionProtFeatures for NFAT5_PLCG2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NFAT5

O94916

PLCG2

P16885

The production of the second messenger moleculesdiacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) ismediated by activated phosphatidylinositol-specific phospholipaseC enzymes. It is a crucial enzyme in transmembrane signaling.

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 NFAT5_PLCG2


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 NFAT5_PLCG2


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
NFAT5NFAT5, FOS, JUN, PRKACA, TRIM25PLCG2SHC1, LYN, FYN, BLK, GAB2, PTPN11, PRKD1, BTK, CBLB, LAT2, VAV1, SYK, PLXNB1, BLNK, IRS1, PRKCA, PLD1, EGFR, ERBB2, ZNF512B, LHX8, PTTG1, TP53, ELK1, EPYC, HSPD1, ASB9, C22orf29, SETD9, GABPB2, KCTD17, PSMD3, RAD54B, RALBP1, TWIST2, ZKSCAN7, ESD, ISL1, PIK3R1, PLCG1, LAT, PTPN6, TRIM25


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 NFAT5_PLCG2


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 NFAT5_PLCG2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePLCG2C3553961AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED1ORPHANET;UNIPROT