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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: 40853

FusionGeneSummary for UPF2_NUDT5

check button Fusion gene summary
Fusion gene informationFusion gene name: UPF2_NUDT5
Fusion gene ID: 40853
HgeneTgene
Gene symbol

UPF2

NUDT5

Gene ID

26019

11164

Gene nameUPF2, regulator of nonsense mediated mRNA decaynudix hydrolase 5
SynonymsHUPF2|RENT2|smg-3YSA1|YSA1H|YSAH1|hNUDT5
Cytomap

10p14

10p14

Type of geneprotein-codingprotein-coding
Descriptionregulator 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 hADP-sugar pyrophosphatase8-oxo-dGDP phosphatasenuclear ATP-synthesis protein NUDIX5nudix (nucleoside diphosphate linked moiety X)-type motif 5
Modification date2018052320180519
UniProtAcc

Q9HAU5

Q9UKK9

Ensembl transtripts involved in fusion geneENST00000356352, ENST00000357604, 
ENST00000397053, ENST00000460569, 
ENST00000491614, ENST00000378937, 
ENST00000537776, ENST00000378952, 
ENST00000378940, ENST00000378927, 
Fusion gene scores* DoF score5 X 5 X 3=753 X 3 X 3=27
# samples 53
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: UPF2 [Title/Abstract] AND NUDT5 [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
TgeneNUDT5

GO:0006338

chromatin remodeling

27257257

TgeneNUDT5

GO:0009191

ribonucleoside diphosphate catabolic process

18462755|19699693|21389046

TgeneNUDT5

GO:0019303

D-ribose catabolic process

21389046

TgeneNUDT5

GO:1990966

ATP generation from poly-ADP-D-ribose

27257257


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
TCGALDLUADTCGA-64-1679-01AUPF2chr10

12084754

-NUDT5chr10

12214865

-
* 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
intron-3CDSENST00000356352ENST00000491614UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000356352ENST00000378937UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000356352ENST00000537776UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000356352ENST00000378952UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000356352ENST00000378940UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000356352ENST00000378927UPF2chr10

12084754

-NUDT5chr10

12214865

-
5UTR-3CDSENST00000357604ENST00000491614UPF2chr10

12084754

-NUDT5chr10

12214865

-
5UTR-3CDSENST00000357604ENST00000378937UPF2chr10

12084754

-NUDT5chr10

12214865

-
5UTR-3CDSENST00000357604ENST00000537776UPF2chr10

12084754

-NUDT5chr10

12214865

-
5UTR-5UTRENST00000357604ENST00000378952UPF2chr10

12084754

-NUDT5chr10

12214865

-
5UTR-5UTRENST00000357604ENST00000378940UPF2chr10

12084754

-NUDT5chr10

12214865

-
5UTR-5UTRENST00000357604ENST00000378927UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000397053ENST00000491614UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000397053ENST00000378937UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000397053ENST00000537776UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000397053ENST00000378952UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000397053ENST00000378940UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000397053ENST00000378927UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000460569ENST00000491614UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000460569ENST00000378937UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-3CDSENST00000460569ENST00000537776UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000460569ENST00000378952UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000460569ENST00000378940UPF2chr10

12084754

-NUDT5chr10

12214865

-
intron-5UTRENST00000460569ENST00000378927UPF2chr10

12084754

-NUDT5chr10

12214865

-

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FusionProtFeatures for UPF2_NUDT5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UPF2

Q9HAU5

NUDT5

Q9UKK9

Enzyme that can either act as an ADP-sugarpyrophosphatase in absence of diphosphate or catalyze thesynthesis of ATP in presence of diphosphate (PubMed:27257257). Inabsence of diphosphate, hydrolyzes with similar activities variousmodified nucleoside diphosphates such as ADP-ribose, ADP-mannose,ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP (PubMed:10567213,PubMed:10722730, PubMed:19699693, PubMed:21389046,PubMed:17052728). Can also hydrolyze other nucleotide sugars withlow activity (PubMed:19699693, PubMed:21389046). In presence ofdiphosphate, mediates the synthesis of ATP in the nucleus bycatalyzing the conversion of ADP-ribose to ATP and ribose 5-phosphate. Nuclear ATP synthesis takes place when dephosphorylatedat Thr-45 (PubMed:27257257). Nuclear ATP generation is requiredfor extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Does not play a role in U8 snoRNAdecapping activity (By similarity). Binds U8 snoRNA (Bysimilarity). {ECO:0000250|UniProtKB:Q9JKX6,ECO:0000269|PubMed:10567213, ECO:0000269|PubMed:10722730,ECO:0000269|PubMed:17052728, ECO:0000269|PubMed:19699693,ECO:0000269|PubMed:21389046, ECO:0000269|PubMed:27257257}.

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 UPF2_NUDT5


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 UPF2_NUDT5


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
UPF2RPS25, UPF3B, EIF4A1, XRN2, UPF1, UPF2, DCP2, XRN1, EXOSC10, EXOSC2, EXOSC4, PARN, UPF3A, SMG1, POLD1, ELAVL1, RNPS1, PAIP1, PRPF31, MMS22L, RBM8A, HBB, TP63, RPS15, RPL5, RPS7, PHB2, MAP1LC3B, NOB1, RPL13, SERBP1, BLM, KRT18, TUBB2A, ENO1, ATP1B3, ITGB1, MRPL40, TOP3B, CALR, E4F1, HBZ, ZBTB48, HS3ST3A1, HSF2BP, CIZ1, NOMO1, RRP7A, WNK1, ZGPAT, SUMO3, TYMS, MIF, RPS6, COMTD1, NDUFA7, LDHA, RPL8, CYBA, TK1, SERF2, CENPU, GADD45GIP1, HMGA1, AGPAT1, GLTSCR2, MTERF3, ZNF44, RSRC2, TNNI2, ABCF2, PITX1, DPF2, EXOSC8, EXOSC6, ZNF408, ZFP36, DCP1B, EXOSC1, LSM1, SKIV2L2, MYB, MAP1A, ART4, LGR4, PUF60, FUS, SMARCD1, SMARCD2, SMARCD3, TRIP10, NTRK1, XPO1, KIF15NUDT5MCM3AP, NUDT3, MAPK6, SKA3, RPA2, SMURF1, CUL1, PPP1R12A, TRIM47, PYCR1, PYCR2, NTRK1, HIST1H2BG, EWSR1, MAD2L1, SKA1, CDH1, DUSP14, PPAT, SLC9A3R2, YAP1, CTNNB1


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 UPF2_NUDT5


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 UPF2_NUDT5


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