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PGBD1

Synonyms
HUCEP-4, SCAND4, dJ874C20.4
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
0
VUS
4,822
Likely benign
150
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carring pathogenic or likely pathogenic variants on PGBD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of head or neck
41.7%
Abnormality of the musculoskeletal system
41.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the digestive system
16.7%
Abnormality of limbs
8.3%
Abnormality of the ear
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the eye
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the respiratory system
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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