SNURF (SNRPN upstream open reading frame)

2003-06-01 Affiliation

Identity

HGNC

SNURF

LOCATION

15q11.2

LOCUSID

8926

ALIAS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 8926
HGNC: 11171
Ensembl: ENSG00000273173

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000273173	ENST00000338327	Q9Y675
ENSG00000273173	ENST00000338327	A0A024R0T6
ENSG00000273173	ENST00000577949	Q9Y675
ENSG00000273173	ENST00000577949	A0A024R0T6
ENSG00000273173	ENST00000580062	Q9Y675
ENSG00000273173	ENST00000580062	A0A024R0T6

Expression (GTEx)

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 ID	Year	Title	Citations
28554868	2017	A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.	10
28554868	2017	A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.	10
22679513	2012	Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.	14
22679513	2012	Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.	14
21227640	2011	Behavioral phenotype in adults with Prader-Willi syndrome.	27
21227640	2011	Behavioral phenotype in adults with Prader-Willi syndrome.	27
16116039	2005	Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.	21
16116039	2005	Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.	21
11726556	2001	The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.	132
11726556	2001	The 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