• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SNRPN (HGNC:11164) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
small nuclear ribonucleoprotein polypeptide N
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PWCR
Alias symbols
SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI
%HI
73(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.04(Read more about gnomAD pLI score)
LOEUF
0.83(Read more about gnomAD LOEUF score)
Cytoband
15q11.2
Genomic Coordinates
GRCh37/hg19: chr15:25068784-25223870 NCBI Ensembl UCSC
GRCh38/hg38: chr15:24823637-24978723 NCBI Ensembl UCSC
MANE Select Transcript
NM_003097.6 ENST00000390687.9 (Read more about MANE Select)
Function
May be involved in tissue-specific alternative RNA processing events. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34418
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/26/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No focal deletion or loss of function mutations have been described for SNURF/SNRPN (although present in the common microdeletion region asscoiated with Prader-Willi and Angelman syndromes), resulting in a haploinsufficiency score of 0. However, Naike et al (2012) report a small duplication in exon 1 of the SNURF/SNRPN gene which is predicted to interrupt SNURF expression (approximate boundaries of dup: chr15:25200032-25200322 [hg19]). The patient was investigated due to overgrowth, increased appetite and developmental delay in childhood. This duplication was inherited from her father who carries the duplication on his paternal chromosome 15 and also had transient excessive eating behaviour as an adolescent. RNA studies showed that the duplication introduces a premature stop codon in SNURF (PMID:22511895). A translocation breakpoint was reported by Wirth et al (2001) disrupting 3' exons of the SNURF/SNRPN gene in a female patient with atypical PWS demonstrated by RT-PCR to prevent expression of distal snoRNA gene cluster HB11-85 (now named SNORD116) (PMID: 11159938)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)