FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 10887

FusionGeneSummary for ECE1_PLA2G5

check button Fusion gene summary
Fusion gene informationFusion gene name: ECE1_PLA2G5
Fusion gene ID: 10887
HgeneTgene
Gene symbol

ECE1

PLA2G5

Gene ID

1889

5322

Gene nameendothelin converting enzyme 1phospholipase A2 group V
SynonymsECEFRFB|GV-PLA2|PLA2-10|hVPLA(2)
Cytomap

1p36.12

1p36.13

Type of geneprotein-codingprotein-coding
Descriptionendothelin-converting enzyme 1ECE-1calcium-dependent phospholipase A2Ca2+-dependent phospholipase A2phosphatidylcholine 2-acylhydrolase 5
Modification date2018051920180331
UniProtAcc

P42892

P39877

Ensembl transtripts involved in fusion geneENST00000415912, ENST00000357071, 
ENST00000374893, ENST00000436918, 
ENST00000264205, ENST00000528294, 
ENST00000486277, ENST00000375108, 
Fusion gene scores* DoF score13 X 11 X 6=8581 X 1 X 1=1
# samples 141
** MAII scorelog2(14/858*10)=-2.61555082055458
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ECE1 [Title/Abstract] AND PLA2G5 [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
HgeneECE1

GO:0010814

substance P catabolic process

18039931

HgeneECE1

GO:0010815

bradykinin catabolic process

18039931

HgeneECE1

GO:0010816

calcitonin catabolic process

18039931

HgeneECE1

GO:0016485

protein processing

7805846

HgeneECE1

GO:0016486

peptide hormone processing

7864876

HgeneECE1

GO:0034959

endothelin maturation

7805846

HgeneECE1

GO:0042447

hormone catabolic process

7864876

TgenePLA2G5

GO:0010518

positive regulation of phospholipase activity

22837859

TgenePLA2G5

GO:0070374

positive regulation of ERK1 and ERK2 cascade

22837859


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
TCGARVSKCMTCGA-EB-A42Z-01AECE1chr1

21616563

-PLA2G5chr1

20411314

+
* 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-3UTRENST00000415912ENST00000486277ECE1chr1

21616563

-PLA2G5chr1

20411314

+
5CDS-5UTRENST00000415912ENST00000375108ECE1chr1

21616563

-PLA2G5chr1

20411314

+
intron-3UTRENST00000357071ENST00000486277ECE1chr1

21616563

-PLA2G5chr1

20411314

+
intron-5UTRENST00000357071ENST00000375108ECE1chr1

21616563

-PLA2G5chr1

20411314

+
5CDS-3UTRENST00000374893ENST00000486277ECE1chr1

21616563

-PLA2G5chr1

20411314

+
5CDS-5UTRENST00000374893ENST00000375108ECE1chr1

21616563

-PLA2G5chr1

20411314

+
5CDS-3UTRENST00000436918ENST00000486277ECE1chr1

21616563

-PLA2G5chr1

20411314

+
5CDS-5UTRENST00000436918ENST00000375108ECE1chr1

21616563

-PLA2G5chr1

20411314

+
5CDS-3UTRENST00000264205ENST00000486277ECE1chr1

21616563

-PLA2G5chr1

20411314

+
5CDS-5UTRENST00000264205ENST00000375108ECE1chr1

21616563

-PLA2G5chr1

20411314

+
intron-3UTRENST00000528294ENST00000486277ECE1chr1

21616563

-PLA2G5chr1

20411314

+
intron-5UTRENST00000528294ENST00000375108ECE1chr1

21616563

-PLA2G5chr1

20411314

+

Top

FusionProtFeatures for ECE1_PLA2G5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ECE1

P42892

PLA2G5

P39877

PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. This isozyme hydrolyzesmore efficiently L-alpha-1-palmitoyl-2-oleoyl phosphatidylcholinethan L-alpha-1-palmitoyl-2-arachidonyl phosphatidylcholine, L-alpha-1-palmitoyl-2-arachidonyl phosphatidylethanolamine, or L-alpha-1-stearoyl-2-arachidonyl phosphatidylinositol. May beinvolved in the production of lung surfactant, the remodeling orregulation of cardiac muscle.

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


Top

FusionGeneSequence for ECE1_PLA2G5


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).

Top

FusionGenePPI for ECE1_PLA2G5


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
ECE1MYOC, SSR4, LAMTOR2, RPS26, RPSA, DNAJC5, DBN1, FKBP10, RPL19, FAF2, VMA21, CALCA, AGT, KNG1, FBXO6, CLK2, KRTAP10-1, KRTAP10-5, PTPRK, LGALS3, CLK1, LGALS9, LGALS8, NPB, FUT3, SUSD4, C7orf69, MTNR1APLA2G5


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


Top

RelatedDrugs for ECE1_PLA2G5


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

Top

RelatedDiseases for ECE1_PLA2G5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneECE1C0018798Congenital Heart Defects2CTD_human
HgeneECE1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneECE1C0019569Hirschsprung Disease1CTD_human;HPO;ORPHANET
HgeneECE1C0020538Hypertensive disease1CTD_human
HgeneECE1C0376634Craniofacial Abnormalities1CTD_human
HgeneECE1C1145628Autonomic nervous system disorders1CTD_human;HPO
HgeneECE1C3151237Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction1UNIPROT
TgenePLA2G5C1856718Fleck Retina, Familial Benign1ORPHANET;UNIPROT