SNURF (SNRPN upstream open reading frame)

2003-06-01  

Identity

HGNC
SNURF
LOCATION
15q11.2
LOCUSID
8926
ALIAS
-

Other Information

Locus ID:

NCBI: 8926
HGNC: 11171
Ensembl: ENSG00000273173

Variants:

dbSNP: 8926
ClinVar: 8926
TCGA: ENSG00000273173
COSMIC: SNURF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000273173ENST00000338327Q9Y675
ENSG00000273173ENST00000338327A0A024R0T6
ENSG00000273173ENST00000577949Q9Y675
ENSG00000273173ENST00000577949A0A024R0T6
ENSG00000273173ENST00000580062Q9Y675
ENSG00000273173ENST00000580062A0A024R0T6

Expression (GTEx)

0
1
2
3
4
5
6
7
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
285548682017A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.10
285548682017A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.10
226795132012Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.14
226795132012Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.14
212276402011Behavioral phenotype in adults with Prader-Willi syndrome.27
212276402011Behavioral phenotype in adults with Prader-Willi syndrome.27
161160392005Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.21
161160392005Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.21
117265562001The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.132
117265562001The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.132

Citation

Dessen P

SNURF (SNRPN upstream open reading frame)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42347/snurf-(snrpn-upstream-open-reading-frame)