SNURF (SNRPN upstream open reading frame)

2003-06-01  

Identity

HGNC
LOCATION
15q11.2
LOCUSID
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

References

Pubmed IDYearTitleCitations
117265562001The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.101
161160392005Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.18
212276402011Behavioral phenotype in adults with Prader-Willi syndrome.18
226795132012Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.14
285548682017A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.1

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