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Fusion gene ID: 14606 |
FusionGeneSummary for GGT1_CARS2 |
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Fusion gene information | Fusion gene name: GGT1_CARS2 | Fusion gene ID: 14606 | Hgene | Tgene | Gene symbol | GGT1 | CARS2 | Gene ID | 2678 | 79587 |
Gene name | gamma-glutamyltransferase 1 | cysteinyl-tRNA synthetase 2, mitochondrial | |
Synonyms | CD224|D22S672|D22S732|GGT|GGT 1|GTG | COXPD27|cysRS | |
Cytomap | 22q11.23 | 13q34 | |
Type of gene | protein-coding | protein-coding | |
Description | glutathione hydrolase 1 proenzymegamma-glutamyltranspeptidase 1glutathione hydrolase 1leukotriene-C4 hydrolasetesticular tissue protein Li 73 | probable cysteine--tRNA ligase, mitochondrialcysteine tRNA ligase 2, mitochondrial (putative)cysteinyl-tRNA synthetase 2, mitochondrial (putative) | |
Modification date | 20180520 | 20180523 | |
UniProtAcc | P19440 | Q9HA77 | |
Ensembl transtripts involved in fusion gene | ENST00000248923, ENST00000400382, ENST00000400383, ENST00000400380, ENST00000406383, ENST00000466310, ENST00000401885, ENST00000404532, ENST00000403838, ENST00000404223, ENST00000404920, | ENST00000257347, ENST00000535398, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
# samples | 2 | 2 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: GGT1 [Title/Abstract] AND CARS2 [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 |
Hgene | GGT1 | GO:0006520 | cellular amino acid metabolic process | 14754911 |
Hgene | GGT1 | GO:0006536 | glutamate metabolic process | 24047895 |
Hgene | GGT1 | GO:0006631 | fatty acid metabolic process | 21447318 |
Hgene | GGT1 | GO:0006751 | glutathione catabolic process | 17924658|21447318 |
Hgene | GGT1 | GO:0031638 | zymogen activation | 23682772 |
Hgene | GGT1 | GO:1901750 | leukotriene D4 biosynthetic process | 21447318 |
![]() (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 | AW182722 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
* 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-5UTR | ENST00000248923 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000248923 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000400382 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000400382 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000400383 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000400383 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000400380 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000400380 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000406383 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000406383 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000466310 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000466310 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000401885 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000401885 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000404532 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000404532 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000403838 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000403838 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000404223 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000404223 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-5UTR | ENST00000404920 | ENST00000257347 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
intron-intron | ENST00000404920 | ENST00000535398 | GGT1 | chr22 | 24981689 | + | CARS2 | chr13 | 111358446 | - |
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FusionProtFeatures for GGT1_CARS2 |
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Hgene | Tgene |
GGT1 | CARS2 |
Cleaves the gamma-glutamyl bond of extracellularglutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and othergamma-glutamyl compounds. The metabolism of glutathione releasesfree glutamate and the dipeptide cysteinyl-glycine, which ishydrolyzed to cysteine and glycine by dipeptidases. In thepresence of high concentrations of dipeptides and some aminoacids, can also catalyze a transpeptidation reaction, transferringthe gamma-glutamyl moiety to an acceptor amino acid to form a newgamma-glutamyl compound. Initiates extracellular glutathione (GSH)breakdown, provides cells with a local cysteine supply andcontributes to maintain intracellular GSH level. It is part of thecell antioxidant defense mechanism. Isoform 3 seems to beinactive. {ECO:0000269|PubMed:20622017,ECO:0000269|PubMed:24047895, ECO:0000269|PubMed:7673200,ECO:0000269|PubMed:7759490, ECO:0000269|PubMed:8095045,ECO:0000269|PubMed:8827453}. |
![]() * 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 GGT1_CARS2 |
![]() (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 GGT1_CARS2 |
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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 GGT1_CARS2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | GGT1 | P19440 | DB00143 | Glutathione | Glutathione hydrolase 1 proenzyme | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for GGT1_CARS2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GGT1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | CTD_human |
Hgene | GGT1 | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | GGT1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | GGT1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | GGT1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
Hgene | GGT1 | C0031099 | Periodontitis | 1 | CTD_human |
Hgene | GGT1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | CARS2 | C4225251 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 | 1 | UNIPROT |