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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: 40851

FusionGeneSummary for UPF2_GLUD1

check button Fusion gene summary
Fusion gene informationFusion gene name: UPF2_GLUD1
Fusion gene ID: 40851
HgeneTgene
Gene symbol

UPF2

GLUD1

Gene ID

26019

2746

Gene nameUPF2, regulator of nonsense mediated mRNA decayglutamate dehydrogenase 1
SynonymsHUPF2|RENT2|smg-3GDH|GDH1|GLUD
Cytomap

10p14

10q23.2

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 hglutamate dehydrogenase 1, mitochondrialepididymis tissue sperm binding protein Li 18mPglutamate dehydrogenase (NAD(P)+)
Modification date2018052320180522
UniProtAcc

Q9HAU5

P00367

Ensembl transtripts involved in fusion geneENST00000356352, ENST00000357604, 
ENST00000397053, ENST00000460569, 
ENST00000277865, ENST00000537649, 
ENST00000544149, ENST00000465164, 
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 GLUD1 [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
TgeneGLUD1

GO:0006537

glutamate biosynthetic process

11032875

TgeneGLUD1

GO:0006538

glutamate catabolic process

6121377|11032875


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
ChiTaRS3.1BI054523UPF2chr10

12071117

-GLUD1chr10

88811305

-
* 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-3UTRENST00000356352ENST00000277865UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-3UTRENST00000356352ENST00000537649UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000356352ENST00000544149UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000356352ENST00000465164UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-3UTRENST00000357604ENST00000277865UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-3UTRENST00000357604ENST00000537649UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000357604ENST00000544149UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000357604ENST00000465164UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-3UTRENST00000397053ENST00000277865UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-3UTRENST00000397053ENST00000537649UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000397053ENST00000544149UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000397053ENST00000465164UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-3UTRENST00000460569ENST00000277865UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-3UTRENST00000460569ENST00000537649UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000460569ENST00000544149UPF2chr10

12071117

-GLUD1chr10

88811305

-
intron-intronENST00000460569ENST00000465164UPF2chr10

12071117

-GLUD1chr10

88811305

-

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FusionProtFeatures for UPF2_GLUD1


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

Q9HAU5

GLUD1

P00367

Mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha-ketoglutarate. Plays a key role in glutamineanaplerosis by producing alpha-ketoglutarate, an importantintermediate in the tricarboxylic acid cycle. May be involved inlearning and memory reactions by increasing the turnover of theexcitatory neurotransmitter glutamate (By similarity).{ECO:0000250}.

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_GLUD1


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_GLUD1


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 UPF2_GLUD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGLUD1P00367DB11081Aluminum chlorideGlutamate dehydrogenase 1, mitochondrialsmall moleculeapproved
TgeneGLUD1P00367DB00142Glutamic AcidGlutamate dehydrogenase 1, mitochondrialsmall moleculeapproved|nutraceutical
TgeneGLUD1P00367DB00756HexachloropheneGlutamate dehydrogenase 1, mitochondrialsmall moleculeapproved|withdrawn

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RelatedDiseases for UPF2_GLUD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGLUD1C1847555Hyperinsulinemic hypoglycemia, familial, 63CTD_human;ORPHANET;UNIPROT
TgeneGLUD1C0015934Fetal Growth Retardation1CTD_human
TgeneGLUD1C0020459Hyperinsulinism1CTD_human
TgeneGLUD1C0220994Hyperammonemia1CTD_human