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Fusion gene ID: 38793 |
FusionGeneSummary for TMTC1_PGD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMTC1_PGD | Fusion gene ID: 38793 | Hgene | Tgene | Gene symbol | TMTC1 | PGD | Gene ID | 83857 | 26227 |
| Gene name | transmembrane and tetratricopeptide repeat containing 1 | phosphoglycerate dehydrogenase | |
| Synonyms | ARG99|OLF|TMTC1A | 3-PGDH|3PGDH|HEL-S-113|NLS|NLS1|PDG|PGAD|PGD|PGDH|PHGDHD|SERA | |
| Cytomap | 12p11.22 | 1p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane and TPR repeat-containing protein 1transmembrane and tetratricopeptide repeat containing 1A | D-3-phosphoglycerate dehydrogenase2-oxoglutarate reductase3-phosphoglycerate dehydrogenaseepididymis secretory protein Li 113malate dehydrogenase | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8IUR5 | P52209 | |
| Ensembl transtripts involved in fusion gene | ENST00000256062, ENST00000551659, ENST00000552618, ENST00000319685, ENST00000539277, ENST00000381224, | ENST00000541529, ENST00000270776, ENST00000538557, ENST00000498356, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 5 X 4 X 5=100 |
| # samples | 7 | 5 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TMTC1 [Title/Abstract] AND PGD [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 |
| 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 | LD | UCEC | TCGA-D1-A3JQ-01A | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| * 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 |
| Frame-shift | ENST00000256062 | ENST00000541529 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| Frame-shift | ENST00000256062 | ENST00000270776 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-5UTR | ENST00000256062 | ENST00000538557 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-intron | ENST00000256062 | ENST00000498356 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| In-frame | ENST00000551659 | ENST00000541529 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| In-frame | ENST00000551659 | ENST00000270776 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-5UTR | ENST00000551659 | ENST00000538557 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-intron | ENST00000551659 | ENST00000498356 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| In-frame | ENST00000552618 | ENST00000541529 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| In-frame | ENST00000552618 | ENST00000270776 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-5UTR | ENST00000552618 | ENST00000538557 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-intron | ENST00000552618 | ENST00000498356 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| intron-3CDS | ENST00000319685 | ENST00000541529 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| intron-3CDS | ENST00000319685 | ENST00000270776 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| intron-5UTR | ENST00000319685 | ENST00000538557 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| intron-intron | ENST00000319685 | ENST00000498356 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| In-frame | ENST00000539277 | ENST00000541529 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| In-frame | ENST00000539277 | ENST00000270776 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-5UTR | ENST00000539277 | ENST00000538557 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-intron | ENST00000539277 | ENST00000498356 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| Frame-shift | ENST00000381224 | ENST00000541529 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| Frame-shift | ENST00000381224 | ENST00000270776 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-5UTR | ENST00000381224 | ENST00000538557 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
| 5CDS-intron | ENST00000381224 | ENST00000498356 | TMTC1 | chr12 | 29904599 | - | PGD | chr1 | 10459686 | + |
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FusionProtFeatures for TMTC1_PGD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMTC1 | PGD |