Identity
HGNC
LOCATION
5q32
LOCUSID
ALIAS
MFD1,TCS,TCS1,treacle
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6949
MIM: 606847
HGNC: 11654
Ensembl: ENSG00000070814
Variants:
dbSNP: 6949
ClinVar: 6949
TCGA: ENSG00000070814
COSMIC: TCOF1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Ribosome biogenesis in eukaryotes | KEGG | ko03008 |
| Ribosome biogenesis in eukaryotes | KEGG | hsa03008 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38444283 | 2024 | Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome. | 1 |
| 38448022 | 2024 | [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing]. | 0 |
| 38500116 | 2024 | A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome. | 0 |
| 38553547 | 2024 | The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). | 0 |
| 38444283 | 2024 | Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome. | 1 |
| 38448022 | 2024 | [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing]. | 0 |
| 38500116 | 2024 | A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome. | 0 |
| 38553547 | 2024 | The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). | 0 |
| 36808708 | 2023 | Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects. | 1 |
| 37640998 | 2023 | [TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery]. | 0 |
| 36808708 | 2023 | Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects. | 1 |
| 37640998 | 2023 | [TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery]. | 0 |
| 34718356 | 2022 | TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis. | 7 |
| 34904330 | 2022 | TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC. | 13 |
| 35093935 | 2022 | The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis. | 4 |
Citation
Dessen P
TCOF1 (treacle ribosome biogenesis factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56165/tcof1-(treacle-ribosome-biogenesis-factor-1)
