PPP1R14D

Chr 15

protein phosphatase 1 regulatory inhibitor subunit 14D

Also known as: CPI17-like, GBPI-1, GBPI1

NCBI Gene: 54866 ENSG00000166143 UniProt: Q9NXH3

Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]

Research

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 PPP1R14D?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 210

267 rare PASS variants

Rare truncating (LoF)

1 in 1,000

54 rare PASS variants

Rare synonymous (reference)

1 in 480

59 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PPP1R14D; 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 · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 280	1 in 2,400
South Asian	~43k	1 in 210	≈ 1 in 10,000
Remaining (unassigned)	~30k	1 in 170	1 in 630
European (Finnish)	~27k	1 in 780	none seen
Admixed American	~22k	1 in 280	1 in 1,900
African / African American	~21k	1 in 250	1 in 1,500
East Asian	~20k	1 in 200	none seen
Ashkenazi Jewish	~13k	1 in 1,500	1 in 690
Middle Eastern	~2,884	1 in 410	≈ 1 in 2,900

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): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓