PIGP

Chr 21AR

phosphatidylinositol glycan anchor biosynthesis class P

Also known as: DCRC, DCRC-S, DEE55, DSCR5, DSRC, EIEE55, PIG-P

NCBI Gene: 51227ENSG00000185808UniProt: P57054OMIM: 605938

The PIGP gene encodes an enzyme that catalyzes the transfer of N-acetylglucosamine to phosphatidylinositol in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis, which anchors proteins to cell surfaces. Mutations cause developmental and epileptic encephalopathy 55 through autosomal recessive inheritance. The pathogenic mechanism involves gain-of-function effects that disrupt normal GPI-anchor biosynthesis.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
MultiplemechanismARLOEUF 1.371 OMIM phenotype
Clinical Summary— PIGP
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Gene-Disease Validity (ClinGen)
developmental and epileptic encephalopathy, 55 · ARModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 42 VUS of 100 total submissions
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
1.37LOEUF
pLI 0.002
Z-score 0.88
OE 0.66 (0.34–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.56Z-score
OE missense 1.18 (0.99–1.40)
92 obs / 78.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.66 (0.34–1.37)
0≤0.351.4
Missense OE1.18 (0.99–1.40)
0≤0.61.4
Synonymous OE1.24
0≤1.21.6
LoF obs/exp: 5 / 7.6Missense obs/exp: 92 / 78.1Syn Z: -1.03
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderatePIGP-related multiple congenital anomalies-hypotonia-seizures syndromeOTHERAR

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

DN
0.7230th %ile
GOF
0.72top 25%
LOF
0.2873th %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

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
VUS42
Likely Benign40
Benign1
11
Pathogenic
42
VUS
40
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
0
0
0
VUS
2
35
5
0
42
Likely Benign
0
0
20
20
40
Benign
0
0
1
0
1
Total235372094

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PIGP · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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