PIGU

Chr 20AR

phosphatidylinositol glycan anchor biosynthesis class U

Also known as: CDC91L1, GAB1, GPIBD21, NEDBSS, PIG-U

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
DNmechanismARLOEUF 0.861 OMIM phenotype
Clinical SummaryPIGU
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Gene-Disease Validity (ClinGen)
glycosylphosphatidylinositol biosynthesis defect 21 · ARLimited

Limited evidence — not for standalone diagnostic reporting

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.03
OE 0.52 (0.330.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.72Z-score
OE missense 0.87 (0.780.97)
208 obs / 239.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.330.86)
00.351.4
Missense OE?0.87 (0.780.97)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 11 / 21.1Missense obs/exp: 208 / 239.4Syn Z: -0.55
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongPIGU-related intellectual disability, central nervous system anomalies and scoliosisOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6550th %ile
GOF
0.5758th %ile
LOF
0.2581th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PIGU · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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