PSMD14

Chr 2

proteasome 26S subunit, non-ATPase 14

Also known as: PAD1, POH1, RPN11

NCBI Gene: 10213 ENSG00000115233 UniProt: O00487 OMIM: 607173

This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]

OMIM Research

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

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PSMD14?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 1,500

147 rare PASS variants

Rare truncating (LoF)

1 in 26,000

18 rare PASS variants

Rare synonymous (reference)

1 in 660

124 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PSMD14. 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 1,600	1 in 29,000
South Asian	~43k	1 in 1,100	1 in 7,900
Remaining (unassigned)	~30k	1 in 1,500	none seen
European (Finnish)	~27k	1 in 3,000	≈ 1 in 27,000
Admixed American	~22k	1 in 1,700	none seen
African / African American	~21k	1 in 650	≈ 1 in 16,000
East Asian	~20k	1 in 1,800	none seen
Ashkenazi Jewish	~13k	1 in 1,600	≈ 1 in 12,000
Middle Eastern	~2,884	≈ 1 in 2,800	none seen

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.

Exome coverage (gnomAD): 6 of 10 coding exons well covered in gnomAD exomes; exons 6, 8, 9, 10 marginal. Genomes: all 10.? see exons ↓