PIGU

Chr 20AR

phosphatidylinositol glycan anchor biosynthesis class U

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

NCBI Gene: 128869ENSG00000101464UniProt: Q9H490OMIM: 608528

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…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with brain anomalies, seizures, and scoliosisMIM #618590
AR

Clinical highlights

Gene-disease validity (ClinGen)
glycosylphosphatidylinositol biosynthesis defect 21 · ARLimitednot for standalone diagnostic reporting
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.03
OE 0.52 (0.33–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.72Z-score
OE missense 0.87 (0.78–0.97)
208 obs / 239.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.33–0.86)
0≤0.351.4
Missense OE?0.87 (0.78–0.97)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 11 / 21.1Missense obs/exp: 208 / 239.4Syn Z: -0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients