SNHG14
Chr 15small nucleolar RNA host gene 14
Also known as: 115HG, IC-SNURF-SNRPN, LNCAT, NCRNA00214, U-UBE3A-ATS, UBE3A-AS, UBE3A-AS1, UBE3A-ATS
This gene is located within the Prader-Willi critical region and produces a long, spliced paternally-imprinted RNA that initiates within a common upstream promoter region shared by the SNRPN (small nuclear ribonucleoprotein polypeptide N) and SNURF genes. This transcript serves as a host RNA for the small nucleolar RNA, C/D box 115 and 116 clusters. This RNA extends in antisense into the region of the ubiquitin protein ligase E3A gene (UBE3A), and is thought to regulate imprinted expression of UBE3A in the brain. This transcript undergoes extensive alternative splicing, and may initiate and terminate at multiple locations within this genomic region. The full-length structure of all splice forms is not determined. [provided by RefSeq, Mar 2017]
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
1299 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 23 | 2 | 25 | 0 | 50 |
Likely Pathogenic | 15 | 14 | 11 | 0 | 40 |
VUS | 4 | 233 | 11 | 1 | 249 |
Likely Benign | 2 | 1 | 33 | 96 | 132 |
Benign | 0 | 2 | 2 | 2 | 6 |
Conflicting | — | 3 | |||
| Total | 44 | 252 | 82 | 99 | 480 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SNHG14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools