RPUSD2

Chr 15

RNA pseudouridine synthase domain containing 2

Also known as: C15orf19, C18B11, PUS9

NCBI Gene: 27079 ENSG00000166133 UniProt: Q8IZ73

Enables pseudouridine synthase activity. Involved in mRNA pseudouridine synthesis. [provided by Alliance of Genome Resources, Jul 2025]

Research

Enables pseudouridine synthase activity. Involved in mRNA pseudouridine synthesis. [provided by Alliance of Genome Resources, Jul 2025]

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

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in RPUSD2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 62

807 rare PASS variants

Rare truncating (LoF)

1 in 1,200

101 rare PASS variants

Rare synonymous (reference)

1 in 150

330 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RPUSD2. 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 92	1 in 1,200
South Asian	~43k	1 in 82	1 in 1,800
Remaining (unassigned)	~30k	1 in 65	1 in 640
European (Finnish)	~27k	1 in 150	1 in 3,300
Admixed American	~22k	1 in 62	1 in 1,700
African / African American	~21k	1 in 72	1 in 1,900
East Asian	~20k	1 in 100	1 in 750
Ashkenazi Jewish	~13k	1 in 210	1 in 750
Middle Eastern	~2,884	1 in 74	≈ 1 in 1,400

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.