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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: 11095

FusionGeneSummary for EFTUD2_PLCD3

check button Fusion gene summary
Fusion gene informationFusion gene name: EFTUD2_PLCD3
Fusion gene ID: 11095
HgeneTgene
Gene symbol

EFTUD2

PLCD3

Gene ID

9343

113026

Gene nameelongation factor Tu GTP binding domain containing 2phospholipase C delta 3
SynonymsMFDGA|MFDM|SNRNP116|Snrp116|Snu114|U5-116KDPLC-delta-3
Cytomap

17q21.31

17q21.31

Type of geneprotein-codingprotein-coding
Description116 kDa U5 small nuclear ribonucleoprotein componentSNU114 homologU5 snRNP-specific protein, 116 kDaelongation factor Tu GTP-binding domain-containing protein 2hSNU1141-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-31-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-3PLC delta3phosphoinositide phospholipase C-delta-3
Modification date2018052320180519
UniProtAcc

Q15029

Q8N3E9

Ensembl transtripts involved in fusion geneENST00000426333, ENST00000592576, 
ENST00000591382, ENST00000402521, 
ENST00000589211, 
ENST00000540511, 
ENST00000322765, 
Fusion gene scores* DoF score10 X 10 X 7=7002 X 2 X 2=8
# samples 112
** MAII scorelog2(11/700*10)=-2.66985139830767
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: EFTUD2 [Title/Abstract] AND PLCD3 [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

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
TCGALDOVTCGA-29-1785-01AEFTUD2chr17

42929777

-PLCD3chr17

43197781

-
* 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-5UTRENST00000426333ENST00000540511EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
5CDS-5UTRENST00000426333ENST00000322765EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
5CDS-5UTRENST00000592576ENST00000540511EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
5CDS-5UTRENST00000592576ENST00000322765EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
5CDS-5UTRENST00000591382ENST00000540511EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
5CDS-5UTRENST00000591382ENST00000322765EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
5CDS-5UTRENST00000402521ENST00000540511EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
5CDS-5UTRENST00000402521ENST00000322765EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
intron-5UTRENST00000589211ENST00000540511EFTUD2chr17

42929777

-PLCD3chr17

43197781

-
intron-5UTRENST00000589211ENST00000322765EFTUD2chr17

42929777

-PLCD3chr17

43197781

-

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FusionProtFeatures for EFTUD2_PLCD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFTUD2

Q15029

PLCD3

Q8N3E9

Component of the U5 snRNP and the U4/U6-U5 tri-snRNPcomplex required for pre-mRNA splicing. Binds GTP. Hydrolyzes the phosphatidylinositol 4,5-bisphosphate(PIP2) to generate 2 second messenger molecules diacylglycerol(DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates theactivation of protein kinase C (PKC), while IP3 releases Ca(2+)from intracellular stores. Essential for trophoblast and placentaldevelopment. May participate in cytokinesis by hydrolyzing PIP2 atthe cleavage furrow.

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 EFTUD2_PLCD3


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 EFTUD2_PLCD3


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
EFTUD2CD2BP2, RNPS1, SNRNP40, GSTK1, SNRPB, PHLDA3, MYC, RNU11, ARPC3, PRPF8, USP39, MEPCE, RUVBL2, RPAP1, GPN1, RPAP3, AIRE, SRRM1, SRRM2, SNW1, HDAC5, TOP1, PSMA3, GSK3B, SREK1, HDGF, SF3A2, ARRB2, CUL3, CUL5, COPS5, RNU4ATAC, RNU6ATAC, ALYREF, PRPF6, EFTUD2, SNRNP200, HINFP, GRK5, HNRNPR, SF3B1, HNRNPU, SNRPA1, HNRNPC, HNRNPK, SRSF1, DHX9, SF3B3, HNRNPM, CDC5L, SNRPD1, SNRPD3, SFPQ, SF3B6, DDX17, PRKDC, KIAA1429, THOC6, PRPF4B, PRPF19, BCAS2, EEF1A1, SF1, DDX21, USP9X, BASP1, RANGAP1, ZNF622, TPR, UBR4, ESR1, EIF4A3, MAGOH, HSP90AA1, FN1, VCAM1, SF3B4, LSM8, IK, HSPB1, ITGA4, PAN2, CYFIP1, WBP4, PIN1, AARSD1, ACBD3, DUS3L, GTF2E1, GTF2F2, HARS, SARS, TTC1, XPO5, RPUSD2, SH3GLB2, SNF8, RPA3, RPA2, RPA1, ASB1, CDKN1A, HUWE1, MDM2, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, SIRT6, DDX23, TSSC4, AAR2, ZMYND11, RNU5A-1, NTRK1, CDC40, CRNKL1, EEF1A2, EEFSEC, MED12, MED13, MRTO4, PRPF31, RANBP2, SART1, XAB2, PRPF4, RNU12, AHSA1, SNCA, TSNAX, CRY1, CRY2, USP37, U2AF2, TTC27, C9orf78, ZNF746, SNRPE, SNRPF, SNRPG, SNRPN, EAPP, HSF1, SMU1, RIOK1, CYLD, ZNHIT2, ECD, RUVBL1, SLC7A6OS, WDR92, TRIM25, BRCA1, LMNA, MTF1PLCD3SKIL, EAF1, LRRC46, CASQ2, SYNPO, GPBP1L1, PRICKLE3, PIP4K2A, ARIH1, GPR156, AHCYL2, ARHGAP22, EFNB3, UBE2A


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 EFTUD2_PLCD3


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 EFTUD2_PLCD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFTUD2C1864652Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate1ORPHANET;UNIPROT