SNRPN |
- 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)