PIGY

Chr 4

phosphatidylinositol glycan anchor biosynthesis class Y

Also known as: HPMRS6, PIG-Y

The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHyperphosphatasia with impaired intellectual development syndrome 6

Clinical highlights

Gene-disease validity (ClinGen)
hyperphosphatasia with intellectual disability syndrome 6 · ARLimitednot for standalone diagnostic reporting
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.88
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.097
Z-score 0.11
OE 0.89 (0.251.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.32Z-score
OE missense 1.15 (0.901.49)
41 obs / 35.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.89 (0.251.88)
00.351.4
Missense OE?1.15 (0.901.49)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 41 / 35.6Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PIGY · 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.

Search ClinicalTrials.gov →