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BST1

Synonyms
CD157
External resources
Summary
Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population.

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
163
Likely pathogenic
2
VUS
9,420
Likely benign
1,419
Benign
0

Patient Phenotypes

Proportions of phenotypes among 131 patients carrying pathogenic or likely pathogenic variants on BST1 gene are displayed below. The following symptoms were found in patients with a variant in BST1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.8%
Abnormality of the cardiovascular system
18.3%
Abnormality of the musculoskeletal system
18.3%
Abnormality of head or neck
15.3%
Abnormality of blood and blood forming tissues
10.7%
Abnormality of the ear
10.7%
Growth abnormality
10.7%
Abnormality of the immune system
9.2%
Abnormality of the genitourinary system
7.6%
Abnormality of the eye
6.1%
Abnormality of the digestive system
5.3%
Abnormality of limbs
4.6%
Abnormality of the respiratory system
4.6%
Abnormality of metabolism homeostasis
3.8%
Neoplasm
3.8%
Abnormality of the integument
3.1%
Abnormality of prenatal development or birth
2.3%
Abnormality of the endocrine system
1.5%
Constitutional symptom
1.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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