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S1PR1

Synonyms
CD363, CHEDG1, D1S3362, ECGF1, EDG-1, EDG1, S1P1
External resources
Summary
The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
422
Likely benign
275
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on S1PR1 gene.

Phenotype class
Patients in 3billion (%)

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