SNHG1

Chr 11

small nucleolar RNA host gene 1

Also known as: LINC00057, NCRNA00057, U22HG, UHG, lncRNA16

NCBI Gene: 23642 ENSG00000255717 OMIM: 603222

This locus produces long non-coding RNAs that regulate cell proliferation and negatively regulate tumor suppressor genes including p53. Based on the provided information, this gene is primarily associated with cancer biology and tumor progression rather than pediatric neurogenetic disorders. No specific mendelian inheritance patterns or neurological phenotypes are described in the available data.

OMIM ResearchSummary from RefSeq

This locus represents a small nucleolar RNA host gene that produces multiple alternatively spliced long non-coding RNAs. This gene is upregulated in cancers and is thought to act as promoter of cell proliferation. This transcript negatively regulates tumor suppressor genes such as tumor protein p53. Expression of this locus may be a marker of tumor progression. [provided by RefSeq, Dec 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SNHG1?

gnomAD v4 · ~183k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 1,200

44 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SNHG1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 7 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~96k	none seen	1 in 1,200
South Asian	~33k	none seen	1 in 700
African / African American	~21k	none seen	1 in 2,600
Admixed American	~18k	none seen	1 in 2,300
Remaining (unassigned)	~8,311	none seen	1 in 1,200
East Asian	~6,585	none seen	≈ 1 in 1,400
Ashkenazi Jewish	~5,870	none seen	≈ 1 in 5,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.