SNORD116-1 (small nucleolar RNA, C/D box 116-1)

2014-11-01  

Identity

HGNC
SNORD116-1
LOCATION
15q11.2
LOCUSID
100033413
ALIAS
HBII-85-1,PWCR1

Other Information

Locus ID:

NCBI: 100033413
MIM: 605436
HGNC: 33067
Ensembl: ENSG00000207063

Variants:

dbSNP: 100033413
ClinVar: 100033413
TCGA: ENSG00000207063
COSMIC: SNORD116-1

RNA/Proteins

Expression (GTEx)

0
1
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

References

Pubmed IDYearTitleCitations
264461162016Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.0
276597132016Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.0
282660142017SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.0

Citation

Dessen P

SNORD116-1 (small nucleolar RNA, C/D box 116-1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73863/snord116-1