TUT7
Chr 9terminal uridylyl transferase 7
This uridylyltransferase regulates mRNA stability and microRNA biogenesis through terminal uridylation of RNA substrates, playing critical roles in post-transcriptional gene regulation. Mutations cause autosomal recessive intellectual disability with onset in early childhood. The gene is highly constrained against loss-of-function variants (pLI >0.99, LOEUF 0.11), indicating intolerance to functional disruption.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TUT7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools