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NCBP1

Synonyms
CBP80, NCBP, Sto1
External resources
Summary
The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay.

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
0
Likely pathogenic
0
VUS
8,918
Likely benign
814
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NCBP1 gene.

Phenotype class
Patients in 3billion (%)

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