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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: 11678

FusionGeneSummary for ENY2_UPF2

check button Fusion gene summary
Fusion gene informationFusion gene name: ENY2_UPF2
Fusion gene ID: 11678
HgeneTgene
Gene symbol

ENY2

UPF2

Gene ID

56943

26019

Gene nameENY2, transcription and export complex 2 subunitUPF2, regulator of nonsense mediated mRNA decay
SynonymsDC6|Sus1|e(y)2HUPF2|RENT2|smg-3
Cytomap

8q23.1

10p14

Type of geneprotein-codingprotein-coding
Descriptiontranscription and mRNA export factor ENY2enhancer of yellow 2 homologenhancer of yellow 2 transcription factor homologregulator of nonsense transcripts 2FRS2/UPF2/LEMD3 fusionLEMD3/UPF2 fusionUPF2 regulator of nonsense transcripts homolognonsense mRNA reducing factor 2smg-3 homolog, nonsense mediated mRNA decay factorup-frameshift suppressor 2 homologyeast Upf2p h
Modification date2018052320180523
UniProtAcc

Q9NPA8

Q9HAU5

Ensembl transtripts involved in fusion geneENST00000521662, ENST00000521688, 
ENST00000520147, ENST00000522407, 
ENST00000356352, ENST00000357604, 
ENST00000397053, ENST00000460569, 
Fusion gene scores* DoF score5 X 5 X 2=505 X 7 X 3=105
# samples 810
** MAII scorelog2(8/50*10)=0.678071905112638
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/105*10)=-0.070389327891398
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENY2 [Title/Abstract] AND UPF2 [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
HgeneENY2

GO:0016578

histone deubiquitination

18206972

HgeneENY2

GO:0045893

positive regulation of transcription, DNA-templated

18206972


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
ChiTaRS3.1BU570216ENY2chr8

110352793

+UPF2chr10

12077182

-
ChiTaRS3.1BQ438570ENY2chr8

110352793

+UPF2chr10

12077182

-
ChiTaRS3.1BU567506ENY2chr8

110352793

+UPF2chr10

12077182

-
ChiTaRS3.1BU570150ENY2chr8

110352793

+UPF2chr10

12077182

-
* 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
Frame-shiftENST00000521662ENST00000356352ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000521662ENST00000357604ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000521662ENST00000397053ENY2chr8

110352793

+UPF2chr10

12077182

-
5CDS-5UTRENST00000521662ENST00000460569ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000521688ENST00000356352ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000521688ENST00000357604ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000521688ENST00000397053ENY2chr8

110352793

+UPF2chr10

12077182

-
5CDS-5UTRENST00000521688ENST00000460569ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000520147ENST00000356352ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000520147ENST00000357604ENY2chr8

110352793

+UPF2chr10

12077182

-
Frame-shiftENST00000520147ENST00000397053ENY2chr8

110352793

+UPF2chr10

12077182

-
5CDS-5UTRENST00000520147ENST00000460569ENY2chr8

110352793

+UPF2chr10

12077182

-
3UTR-3CDSENST00000522407ENST00000356352ENY2chr8

110352793

+UPF2chr10

12077182

-
3UTR-3CDSENST00000522407ENST00000357604ENY2chr8

110352793

+UPF2chr10

12077182

-
3UTR-3CDSENST00000522407ENST00000397053ENY2chr8

110352793

+UPF2chr10

12077182

-
3UTR-5UTRENST00000522407ENST00000460569ENY2chr8

110352793

+UPF2chr10

12077182

-

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FusionProtFeatures for ENY2_UPF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ENY2

Q9NPA8

UPF2

Q9HAU5

Involved in mRNA export coupled transcription activationby association with both the TREX-2 and the SAGA complexes. Thetranscription regulatory histone acetylation (HAT) complex SAGA isa multiprotein complex that activates transcription by remodelingchromatin and mediating histone acetylation and deubiquitination.Within the SAGA complex, participates in a subcomplex thatspecifically deubiquitinates both histones H2A and H2B. The SAGAcomplex is recruited to specific gene promoters by activators suchas MYC, where it is required for transcription. Required fornuclear receptor-mediated transactivation. The TREX-2 complexfunctions in docking export-competent ribonucleoprotein particles(mRNPs) to the nuclear entrance of the nuclear pore complex(nuclear basket). TREX-2 participates in mRNA export and accuratechromatin positioning in the nucleus by tethering genes to thenuclear periphery. {ECO:0000269|PubMed:18206972,ECO:0000269|PubMed:21746879}.

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 ENY2_UPF2


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 ENY2_UPF2


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


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 ENY2_UPF2


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 ENY2_UPF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource