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VPREB1

Synonyms
CD179a, IGI, IGVPB, VPREB
External resources
Summary
The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. 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
44
Likely pathogenic
0
VUS
390
Likely benign
12
Benign
0

Patient phenotypes

Proportions of phenotypes among 44 patients carring pathogenic or likely pathogenic variants on VPREB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
56.8%
Abnormality of the nervous system
34.1%
Abnormality of the cardiovascular system
13.6%
Abnormality of the eye
9.1%
Growth abnormality
9.1%
Abnormality of the digestive system
4.5%
Abnormality of the endocrine system
4.5%
Abnormality of the musculoskeletal system
4.5%
Abnormality of blood and blood-forming tissues
2.3%
Abnormality of head or neck
2.3%
Abnormality of limbs
2.3%
Abnormality of prenatal development or birth
2.3%
Abnormality of the ear
2.3%
Abnormality of the immune system
2.3%
Abnormality of the integument
2.3%
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%
Neoplasm
0%

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