HSPB2-C11ORF52

Chr 11

HSPB2-C11orf52 readthrough (NMD candidate)

Also known as: C11orf52

This locus represents a read-through transcript between the HSPB2 and C11orf52 genes that is unlikely to produce a functional protein product due to nonsense-mediated mRNA decay. No disease associations have been established for this transcriptional read-through product.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring heat shock 27kDa protein 2 (HSPB2) and chromosome 11 open reading frame 52 (C11orf52) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) based on the use of the supported HSPB2 translational start codon, and it is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010]

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 HSPB2-C11ORF52?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

273 rare PASS variants

Rare truncating (LoF)

1 in 5,800

40 rare PASS variants

Rare synonymous (reference)

1 in 820

121 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for HSPB2-C11ORF52. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 280	1 in 6,900
South Asian	~43k	1 in 310	1 in 1,500
Remaining (unassigned)	~30k	1 in 220	≈ 1 in 10,000
European (Finnish)	~27k	1 in 1,400	≈ 1 in 6,500
Admixed American	~22k	1 in 270	≈ 1 in 4,500
African / African American	~21k	1 in 170	1 in 3,600
East Asian	~20k	1 in 360	1 in 3,800
Ashkenazi Jewish	~13k	1 in 520	none seen
Middle Eastern	~2,884	1 in 220	≈ 1 in 960

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.