PGBD1

Chr 6

piggyBac transposable element derived 1

Also known as: HUCEP-4, SCAND4, dJ874C20.4

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. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.90
LOEUF
DN
Mechanism· predicted
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?
0.90LOEUF
pLI 0.000
Z-score 2.03
OE 0.62 (0.430.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.86Z-score
OE missense 0.88 (0.810.96)
368 obs / 417.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.430.90)
00.351.4
Missense OE?0.88 (0.810.96)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 20 / 32.5Missense obs/exp: 368 / 417.2Syn Z: 1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PGBD1 · 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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