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BRDT

Synonyms
BRD6, CT9, SPGF21
External resources
Summary
BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene.

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
8
Likely pathogenic
0
VUS
1,810
Likely benign
232
Benign
1

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on BRDT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
62.5%
Abnormality of the cardiovascular system
37.5%
Abnormality of the digestive system
25%
Abnormality of the immune system
25%
Abnormality of head or neck
12.5%
Abnormality of limbs
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the ear
12.5%
Abnormality of the eye
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormality of the voice
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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