PGBD3
Chr 10ADARSomaticpiggyBac transposable element derived 3
The protein is a transposon-derived transcriptional regulator that binds to specific transposable DNA elements and can form fusion transcripts with the adjacent DNA repair gene ERCC6. Mutations cause cerebrooculofacioskeletal syndrome, Cockayne syndrome type B, De Sanctis-Cacchione syndrome, and UV-sensitive syndrome, which are multisystem disorders affecting neurological development, growth, and DNA repair with early childhood onset. The gene shows both autosomal recessive and autosomal dominant inheritance patterns depending on the specific condition.
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
315 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 1 | 45 | 0 | 49 |
Likely Pathogenic | 10 | 0 | 27 | 0 | 37 |
VUS | 1 | 109 | 41 | 0 | 151 |
Likely Benign | 0 | 6 | 5 | 47 | 58 |
Benign | 0 | 3 | 6 | 1 | 10 |
Conflicting | — | 9 | |||
| Total | 14 | 119 | 124 | 48 | 314 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PGBD3 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools