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Fusion gene ID: 40851 |
FusionGeneSummary for UPF2_GLUD1 |
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Fusion gene information | Fusion gene name: UPF2_GLUD1 | Fusion gene ID: 40851 | Hgene | Tgene | Gene symbol | UPF2 | GLUD1 | Gene ID | 26019 | 2746 |
Gene name | UPF2, regulator of nonsense mediated mRNA decay | glutamate dehydrogenase 1 | |
Synonyms | HUPF2|RENT2|smg-3 | GDH|GDH1|GLUD | |
Cytomap | 10p14 | 10q23.2 | |
Type of gene | protein-coding | protein-coding | |
Description | regulator 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 | glutamate dehydrogenase 1, mitochondrialepididymis tissue sperm binding protein Li 18mPglutamate dehydrogenase (NAD(P)+) | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q9HAU5 | P00367 | |
Ensembl transtripts involved in fusion gene | ENST00000356352, ENST00000357604, ENST00000397053, ENST00000460569, | ENST00000277865, ENST00000537649, ENST00000544149, ENST00000465164, | |
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 3 X 3 X 3=27 |
# samples | 5 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | GLUD1 | GO:0006537 | glutamate biosynthetic process | 11032875 |
Tgene | GLUD1 | GO:0006538 | glutamate catabolic process | 6121377|11032875 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BI054523 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3UTR | ENST00000356352 | ENST00000277865 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-3UTR | ENST00000356352 | ENST00000537649 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000356352 | ENST00000544149 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000356352 | ENST00000465164 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-3UTR | ENST00000357604 | ENST00000277865 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-3UTR | ENST00000357604 | ENST00000537649 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000357604 | ENST00000544149 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000357604 | ENST00000465164 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-3UTR | ENST00000397053 | ENST00000277865 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-3UTR | ENST00000397053 | ENST00000537649 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000397053 | ENST00000544149 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000397053 | ENST00000465164 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-3UTR | ENST00000460569 | ENST00000277865 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-3UTR | ENST00000460569 | ENST00000537649 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000460569 | ENST00000544149 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
intron-intron | ENST00000460569 | ENST00000465164 | UPF2 | chr10 | 12071117 | - | GLUD1 | chr10 | 88811305 | - |
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FusionProtFeatures for UPF2_GLUD1 |
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Hgene | Tgene |
UPF2 | GLUD1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for UPF2_GLUD1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for UPF2_GLUD1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GLUD1 | P00367 | DB11081 | Aluminum chloride | Glutamate dehydrogenase 1, mitochondrial | small molecule | approved |
Tgene | GLUD1 | P00367 | DB00142 | Glutamic Acid | Glutamate dehydrogenase 1, mitochondrial | small molecule | approved|nutraceutical |
Tgene | GLUD1 | P00367 | DB00756 | Hexachlorophene | Glutamate dehydrogenase 1, mitochondrial | small molecule | approved|withdrawn |
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RelatedDiseases for UPF2_GLUD1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | GLUD1 | C1847555 | Hyperinsulinemic hypoglycemia, familial, 6 | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | GLUD1 | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
Tgene | GLUD1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
Tgene | GLUD1 | C0220994 | Hyperammonemia | 1 | CTD_human |