PIGS

Chr 17

phosphatidylinositol glycan anchor biosynthesis class S

Also known as: DEE95, GPIBD18, PIG-S

NCBI Gene: 94005 ENSG00000087111 UniProt: Q96S52

This gene encodes a component of the GPI-anchor transamidase complex that catalyzes the attachment of GPI anchors to proteins in the endoplasmic reticulum, enabling these proteins to be anchored to cell surfaces. Biallelic mutations cause developmental and epileptic encephalopathy 95, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.769), reflecting its essential role in cellular function.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGlycosylphosphatidylinositol biosynthesis defect 18

Clinical highlights

Gene-disease validity (ClinGen)

glycosylphosphatidylinositol biosynthesis defect 18 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

6747

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.77

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — PIGS

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.77LOEUF

pLI 0.000

Z-score 2.45

OE 0.47 (0.30–0.77)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.78Z-score

OE missense 0.88 (0.80–0.97)

285 obs / 324.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.47 (0.30–0.77)

0≤0.351.4

Missense OE?0.88 (0.80–0.97)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 12 / 25.3Missense obs/exp: 285 / 324.5Syn Z: 0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIGS · protein map & ClinVar variants

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

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

📖

GeneReview available — PIGS

Authoritative clinical overview · NCBI Bookshelf · Recommended first read

Open GeneReview ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Gastric Cancer Peritoneal Metastases

PIPAC in Gastric Peritoneal Metastasis

ENROLLING BY INVITATION

NCT07517419Phase PHASE2Chinese University of Hong KongStarted 2021-10-11

Cisplatin and Doxorubicin

Prostate Adenocarcinoma

Two Studies for Patients With Unfavorable Intermediate Risk Prostate Cancer Testing Less Intense Treatment for Patients With a Low Gene Risk Score and Testing a More Intense Treatment for Patients With a Higher Gene Risk Score, The Guidance Trial

ACTIVE NOT RECRUITING

NCT05050084Phase PHASE3NRG OncologyStarted 2021-12-06

BicalutamideBuserelinDarolutamide

Prostate AdenocarcinomaStage III Prostate Cancer AJCC v8Stage IVA Prostate Cancer AJCC v8

Two Studies for Patients With High Risk Prostate Cancer Testing Less Intense Treatment for Patients With a Low Gene Risk Score and Testing a More Intense Treatment for Patients With a High Gene Risk Score, The PREDICT-RT Trial

ACTIVE NOT RECRUITING

NCT04513717Phase PHASE3NRG OncologyStarted 2021-01-21

ApalutamideBicalutamideBiospecimen Collection

B-Cell Non-Hodgkin LymphomaHistiocytic and Dendritic Cell NeoplasmMyelodysplastic Syndrome

A Vaccine (VSV-hIFNβ-NIS) With or Without Cyclophosphamide and Combinations of Ipilimumab, Nivolumab, and Cemiplimab in Treating Relapsed or Refractory Multiple Myeloma, Acute Myeloid Leukemia or Lymphoma

RECRUITING

NCT03017820Phase PHASE1Mayo ClinicStarted 2017-04-04

Biopsy ProcedureBiospecimen CollectionBone Marrow Biopsy

Hepatic Failure

Ex Vivo Perfusion of Gene-Edited Porcine Livers in Patients With Severe Hepatic Failure

ACTIVE NOT RECRUITING

NCT07519005Phase EARLY_PHASE1Xijing HospitalStarted 2026-01-31

Ex vivo perfusion of six-gene-edited porcine liverMulti-drug immunosuppressive therapy

Clinical Literature

Open Research Assistant →

Landmark / reviewRecent case evidence

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