PGBD2

Chr 1

piggyBac transposable element derived 2

The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.58
LOEUF
Mechanism
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?
1.58LOEUF
pLI 0.000
Z-score -0.47
OE 1.11 (0.791.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.23Z-score
OE missense 1.04 (0.951.13)
349 obs / 337.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.11 (0.791.58)
00.351.4
Missense OE?1.04 (0.951.13)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 22 / 19.8Missense obs/exp: 349 / 337.1Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PGBD2 · 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.

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