RNU5A-1
Chr 15q22.31RNA, U5A small nuclear 1
- Aliases:
- U5A, U5B1
- MANE:
- ENST00000362698.2
Annotations refreshed 9 hours ago.
Predicted protein structure
No predicted 3D structure for RNU5A-1. Non-coding genes and pseudogenes typically have no protein product.
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
neurodevelopmental disorder
0.19Neurodevelopmental delay
0.01neoplasm
0.01type 2 diabetes mellitus
0.00heart failure
0.00acute myocardial infarction
0.00myocardial infarction
0.00colonic neoplasm
0.00malignant colon neoplasm
0.00hydrops fetalis
0.00
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.