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CD38

Synonyms
ADPRC 1, ADPRC1
External resources
Summary
The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants.

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
16
Likely pathogenic
3
VUS
1,439
Likely benign
916
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on CD38 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
31.6%
Abnormality of the nervous system
26.3%
Abnormality of the musculoskeletal system
21.1%
Abnormality of head or neck
15.8%
Abnormality of the cardiovascular system
15.8%
Abnormality of the integument
15.8%
Abnormality of the immune system
10.5%
Growth abnormality
10.5%
Abnormal cellular phenotype
5.3%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of limbs
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the ear
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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