SKOR1 (SKI family transcriptional corepressor 1)

2011-03-01  

Identity

HGNC
SKOR1
LOCATION
15q23
LOCUSID
390598
ALIAS
CORL1,FUSSEL15,LBXCOR1

Other Information

Locus ID:

NCBI: 390598
MIM: 611273
HGNC: 21326
Ensembl: ENSG00000188779

Variants:

dbSNP: 390598
ClinVar: 390598
TCGA: ENSG00000188779
COSMIC: SKOR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188779ENST00000341418P84550
ENSG00000188779ENST00000380035P84550
ENSG00000188779ENST00000554054G3V5H7
ENSG00000188779ENST00000554240G3V3E1

Expression (GTEx)

0
5
10
15
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
176377802007Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.156
192790212009Replication of restless legs syndrome loci in three European populations.27
185411162008Genetics of restless legs syndrome.11
198227832009Association of intronic variants of the BTBD9 gene with Tourette syndrome.7
297988202018A haplotype of MAP2K5/SKOR1 was associated with essential tremor in Chinese population.2
172926232007Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling.0
216413852011Fussel-15, a new player in wound healing, is deregulated in keloid and localized scleroderma.0

Citation

Dessen P

SKOR1 (SKI family transcriptional corepressor 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52104/skor1