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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: 14632

FusionGeneSummary for GIGYF2_ECEL1

check button Fusion gene summary
Fusion gene informationFusion gene name: GIGYF2_ECEL1
Fusion gene ID: 14632
HgeneTgene
Gene symbol

GIGYF2

ECEL1

Gene ID

26058

9427

Gene nameGRB10 interacting GYF protein 2endothelin converting enzyme like 1
SynonymsGYF2|PARK11|PERQ2|PERQ3|TNRC15DA5D|DINE|ECEX|XCE
Cytomap

2q37.1

2q37.1

Type of geneprotein-codingprotein-coding
DescriptionGRB10-interacting GYF protein 2PERQ amino acid rich, with GYF domain 3PERQ amino acid-rich with GYF domain-containing protein 2Parkinson disease (autosomal recessive, early onset) 11trinucleotide repeat-containing gene 15 proteinendothelin-converting enzyme-like 1X converting enzymedamage induced neuronal endopeptidase
Modification date2018052220180519
UniProtAcc

Q6Y7W6

O95672

Ensembl transtripts involved in fusion geneENST00000373566, ENST00000373563, 
ENST00000409480, ENST00000409547, 
ENST00000409196, ENST00000409451, 
ENST00000482666, ENST00000452341, 
ENST00000304546, ENST00000409941, 
Fusion gene scores* DoF score18 X 17 X 13=39781 X 1 X 1=1
# samples 241
** MAII scorelog2(24/3978*10)=-4.05093696522523
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: GIGYF2 [Title/Abstract] AND ECEL1 [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
HgeneGIGYF2

GO:0016441

posttranscriptional gene silencing

27157137

HgeneGIGYF2

GO:0061157

mRNA destabilization

27157137


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
TCGALDGBMTCGA-06-0141-01AGIGYF2chr2

233562102

+ECEL1chr2

233345866

-
* 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-3CDSENST00000373566ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000373566ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000373563ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000373563ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409480ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409480ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409547ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409547ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409196ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409196ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409451ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
5UTR-3CDSENST00000409451ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
3UTR-3CDSENST00000482666ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
3UTR-3CDSENST00000482666ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
intron-3CDSENST00000452341ENST00000304546GIGYF2chr2

233562102

+ECEL1chr2

233345866

-
intron-3CDSENST00000452341ENST00000409941GIGYF2chr2

233562102

+ECEL1chr2

233345866

-

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FusionProtFeatures for GIGYF2_ECEL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GIGYF2

Q6Y7W6

ECEL1

O95672

May contribute to the degradation of peptide hormonesand be involved in the inactivation of neuronal peptides.

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 GIGYF2_ECEL1


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 GIGYF2_ECEL1


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
GIGYF2GRB10, USP11, PRPF6, PRPF8, DDX20, SMN1, GEMIN4, U2AF2, U2AF1L4, SF3B2, ATN1, ELAVL1, YBX1, PABPC1, TNRC6B, FXR1, AGO2, G3BP1, CAPRIN1, APC, PCK1, SIRT7, DIS3L, HSP90AA1, EIF4E2, ZNF598, RQCD1, TARDBP, YWHAB, LGR4, AIRE, AURKB, CDKN1A, CEP250, CEP57, CEP76, EMD, LGALS3BP, MAGED2, TP53, TUBGCP3, VCP, HUWE1, CCDC8, BMI1, EXOSC7, WDR83, NTRK1, NINL, XPO1, RFX5, MCM2, MEX3C, CDH1, EGFR, MRPL12, C10orf88, NCAPH2, KCTD3, CGN, KIF13B, ZBTB21, KSR1, GIGYF1, RTKN, RALGPS2, MAST3, LRFN1, DENND1A, PPM1H, DENND4C, CDC25C, SH3PXD2A, SRGAP2, NF1, CBY1, LPIN3, SIPA1L1, CAMSAP2, HDAC4, NADK, LIMA1, MAGI1, TESK2, DCLK1, RASAL2, ZNF638, SH3RF3, OSBPL6, KIAA1804, MAPKAP1, TIAM1, KIF1C, PLEKHA7, PHLDB2, TANC2, PTPN13, NAV1, INPP5E, TRIM25ECEL1USP19, FBXO6, CD1B, HLA-E, SCGB2A2, MPPE1, CLEC2D, IL17RC, VNN2, UPK1A


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 GIGYF2_ECEL1


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 GIGYF2_ECEL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGIGYF2C4083045PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO1CTD_human;UNIPROT
TgeneECEL1C3554415ARTHROGRYPOSIS, DISTAL, TYPE 5D4ORPHANET;UNIPROT