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Fusion gene ID: 14574 |
FusionGeneSummary for GFPT1_NF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GFPT1_NF1 | Fusion gene ID: 14574 | Hgene | Tgene | Gene symbol | GFPT1 | NF1 | Gene ID | 2673 | 4763 |
| Gene name | glutamine--fructose-6-phosphate transaminase 1 | neurofibromin 1 | |
| Synonyms | CMS12|CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLG | NFNS|VRNF|WSS | |
| Cytomap | 2p13.3 | 17q11.2 | |
| 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 | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q06210 | P21359 | |
| Ensembl transtripts involved in fusion gene | ENST00000357308, ENST00000361060, ENST00000494201, | ENST00000356175, ENST00000358273, ENST00000431387, ENST00000581113, ENST00000417592, ENST00000444181, | |
| Fusion gene scores | * DoF score | 3 X 4 X 6=72 | 15 X 13 X 12=2340 |
| # samples | 6 | 16 | |
| ** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/2340*10)=-3.8703647195834 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GFPT1 [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | NF1 | GO:0043547 | positive regulation of GTPase activity | 2121371 |
| 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 |
| TCGA | RV | STAD | TCGA-CG-4477-01A | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| * 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 |
| In-frame | ENST00000357308 | ENST00000356175 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| In-frame | ENST00000357308 | ENST00000358273 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000357308 | ENST00000431387 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000357308 | ENST00000581113 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000357308 | ENST00000417592 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000357308 | ENST00000444181 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| In-frame | ENST00000361060 | ENST00000356175 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| In-frame | ENST00000361060 | ENST00000358273 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000361060 | ENST00000431387 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000361060 | ENST00000581113 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000361060 | ENST00000417592 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| 5CDS-intron | ENST00000361060 | ENST00000444181 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| intron-3CDS | ENST00000494201 | ENST00000356175 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| intron-3CDS | ENST00000494201 | ENST00000358273 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| intron-intron | ENST00000494201 | ENST00000431387 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| intron-intron | ENST00000494201 | ENST00000581113 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| intron-intron | ENST00000494201 | ENST00000417592 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
| intron-intron | ENST00000494201 | ENST00000444181 | GFPT1 | chr2 | 69565030 | - | NF1 | chr17 | 29664837 | + |
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FusionProtFeatures for GFPT1_NF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GFPT1 | NF1 |