PIGS

Chr 17AR

phosphatidylinositol glycan anchor biosynthesis class S

Also known as: DEE95, GPIBD18, PIG-S

NCBI Gene: 94005ENSG00000087111UniProt: Q96S52OMIM: 610271

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]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.771 OMIM phenotype
Clinical Summary— PIGS
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Gene-Disease Validity (ClinGen)
glycosylphosphatidylinositol biosynthesis defect 18 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
5 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
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
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
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
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 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

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