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Fusion gene ID: 14573 |
FusionGeneSummary for GFPT1_EIF2S3 |
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Fusion gene information | Fusion gene name: GFPT1_EIF2S3 | Fusion gene ID: 14573 | Hgene | Tgene | Gene symbol | GFPT1 | EIF2S3 | Gene ID | 2673 | 1968 |
Gene name | glutamine--fructose-6-phosphate transaminase 1 | eukaryotic translation initiation factor 2 subunit gamma | |
Synonyms | CMS12|CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLG | EIF2|EIF2G|EIF2gamma|MEHMO|MRXSBRK|eIF-2gA | |
Cytomap | 2p13.3 | Xp22.11 | |
Type of gene | protein-coding | protein-coding | |
Description | glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1D-fructose-6-phosphate amidotransferase 1glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1glutamine:fructose-6-phosphate amidotransferase 1hexosephosphate aminotransferas | eukaryotic translation initiation factor 2 subunit 3eIF-2-gamma XeIF-2gXeukaryotic translation initiation factor 2 subunit gamma Xeukaryotic translation initiation factor 2, subunit 3 gamma, 52kDaeukaryotic translation initiation factor 2G | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q06210 | P41091 | |
Ensembl transtripts involved in fusion gene | ENST00000357308, ENST00000361060, ENST00000494201, | ENST00000253039, ENST00000460032, | |
Fusion gene scores | * DoF score | 3 X 4 X 6=72 | 6 X 6 X 2=72 |
# samples | 6 | 6 | |
** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GFPT1 [Title/Abstract] AND EIF2S3 [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 | EIF2S3 | GO:0006413 | translational initiation | 10900014 |
![]() (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 | AW580222 | GFPT1 | chr2 | 69560231 | + | EIF2S3 | chrX | 24080683 | - |
* 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-3CDS | ENST00000357308 | ENST00000253039 | GFPT1 | chr2 | 69560231 | + | EIF2S3 | chrX | 24080683 | - |
intron-intron | ENST00000357308 | ENST00000460032 | GFPT1 | chr2 | 69560231 | + | EIF2S3 | chrX | 24080683 | - |
intron-3CDS | ENST00000361060 | ENST00000253039 | GFPT1 | chr2 | 69560231 | + | EIF2S3 | chrX | 24080683 | - |
intron-intron | ENST00000361060 | ENST00000460032 | GFPT1 | chr2 | 69560231 | + | EIF2S3 | chrX | 24080683 | - |
intron-3CDS | ENST00000494201 | ENST00000253039 | GFPT1 | chr2 | 69560231 | + | EIF2S3 | chrX | 24080683 | - |
intron-intron | ENST00000494201 | ENST00000460032 | GFPT1 | chr2 | 69560231 | + | EIF2S3 | chrX | 24080683 | - |
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FusionProtFeatures for GFPT1_EIF2S3 |
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Hgene | Tgene |
GFPT1 | EIF2S3 |
Controls the flux of glucose into the hexosaminepathway. Most likely involved in regulating the availability ofprecursors for N- and O-linked glycosylation of proteins.Regulates the circadian expression of clock genes ARNTL/BMAL1 andCRY1. | As a subunit of eukaryotic initiation factor 2 (eIF2),involved in the early steps of protein synthesis. In the presenceof GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAiand then recruits the 40S ribosomal complex, a step thatdetermines the rate of protein translation. This step is followedby mRNA binding to form the 43S pre-initiation complex. Junctionof the 60S ribosomal subunit to form the 80S initiation complex ispreceded by hydrolysis of the GTP bound to eIF2 and release of aneIF2-GDP binary complex. In order for eIF2 to recycle and catalyzeanother round of initiation, the GDP bound to eIF2 must exchangewith GTP by way of a reaction catalyzed by eIF2B (By similarity).Along with its paralog on chromosome Y, may contribute tospermatogenesis up to the round spermatid stage (By similarity).{ECO:0000250, ECO:0000250|UniProtKB:Q9Z0N1}. |
![]() * 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 GFPT1_EIF2S3 |
![]() (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 GFPT1_EIF2S3 |
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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 GFPT1_EIF2S3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GFPT1_EIF2S3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GFPT1 | C0028754 | Obesity | 1 | CTD_human |
Hgene | GFPT1 | C3552335 | MYASTHENIC SYNDROME, CONGENITAL, 12 | 1 | UNIPROT |