RPS4Y1
Chr Yribosomal protein S4 Y-linked 1
Also known as: RPS4Y, S4
This gene encodes ribosomal protein S4, a component of the 40S ribosomal subunit that catalyzes protein synthesis in the cytoplasm. Located on the Y chromosome, RPS4Y1 has a functionally equivalent X-linked counterpart (RPS4X), and haploinsufficiency of ribosomal protein S4 genes has been suggested to contribute to Turner syndrome, though this remains controversial. The gene shows moderate constraint against loss-of-function variants (pLI 0.63, LOEUF 0.94).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
104 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 59 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 6 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 67 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RPS4Y1 · 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