TCOF1 (treacle ribosome biogenesis factor 1)

2016-10-01  

Identity

HGNC
TCOF1
LOCATION
5q32
LOCUSID
6949
ALIAS
MFD1,TCS,TCS1,treacle
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6949
MIM: 606847
HGNC: 11654
Ensembl: ENSG00000070814

Variants:

dbSNP: 6949
ClinVar: 6949
TCGA: ENSG00000070814
COSMIC: TCOF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070814ENST00000323668Q13428
ENSG00000070814ENST00000377797Q13428
ENSG00000070814ENST00000394269Q13428
ENSG00000070814ENST00000427724Q13428
ENSG00000070814ENST00000439160Q13428
ENSG00000070814ENST00000445265Q13428
ENSG00000070814ENST00000504761Q13428
ENSG00000070814ENST00000506767H0YAB7
ENSG00000070814ENST00000513346E7ETY2
ENSG00000070814ENST00000513538H0Y8Y7
ENSG00000070814ENST00000515516H0YA99
ENSG00000070814ENST00000643257Q13428
ENSG00000070814ENST00000643812A0A2R8Y4M7
ENSG00000070814ENST00000646961A0A2R8Y857
ENSG00000070814ENST00000650162A0A3B3IS06

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384442832024Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.1
384480222024[Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].0
385001162024A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.0
385535472024The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).0
384442832024Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.1
384480222024[Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].0
385001162024A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.0
385535472024The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).0
368087082023Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.1
376409982023[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].0
368087082023Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.1
376409982023[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].0
347183562022TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis.7
349043302022TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC.13
350939352022The 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)