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DGKB

Synonyms
DAGK2, DGK, DGK-BETA
External resources
Summary
Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different 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
28
Likely pathogenic
0
VUS
5,899
Likely benign
497
Benign
0

Patient phenotypes

Proportions of phenotypes among 28 patients carring pathogenic or likely pathogenic variants on DGKB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
17.9%
Abnormality of head or neck
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the genitourinary system
14.3%
Growth abnormality
14.3%
Abnormality of the musculoskeletal system
10.7%
Abnormality of limbs
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the immune system
7.1%
Neoplasm
7.1%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the integument
3.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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