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Fusion gene ID: 14573 |
FusionGeneSummary for GFPT1_EIF2S3 |
 Fusion gene summary |
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | EIF2S3 | GO:0006413 | translational initiation | 10900014 |
| 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 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 |
| 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. |
| 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 |
| Main function of each fusion partner protein. (from UniProt) |
| 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}. |
| Retention 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 . * 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 |
| 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 GFPT1_EIF2S3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GFPT1_EIF2S3 |
| Drugs targeting genes involved in this fusion gene. (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 |
| Diseases associated with fusion partners. (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 |
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