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
152496882004The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.91
250647362014The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.46
255125132014Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.36
153403642004Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.33
190278702009Treacher Collins syndrome: unmasking the role of Tcof1/treacle.31
205389602010A candidate gene study of obstructive sleep apnea in European Americans and African Americans.30
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
257901622016Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.17
246902222014Treacher Collins Syndrome: the genetics of a craniofacial disease.15

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