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GEMIN4

Synonyms
HC56, HCAP1, HHRF-1, NEDMCR, p97
External resources
Summary
The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

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
2,869
Likely benign
1,552
Benign
650

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GEMIN4 gene.

Phenotype class
Patients in 3billion (%)

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