RPL10

Chr XXLR

ribosomal protein L10

Also known as: AUTSX5, DXS648, DXS648E, L10, MRXS35, NOV, QM, uL16

This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit and plays a role in forming actively translating ribosomes. Mutations cause X-linked intellectual developmental disorder with syndromic features and have been associated with autism spectrum disorders, inherited in an X-linked recessive pattern. The gene shows high constraint against loss-of-function variants, suggesting mutations predominantly cause disease through haploinsufficiency or loss-of-function mechanisms.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
LOFmechanismXLRLOEUF 0.392 OMIM phenotypes
Clinical SummaryRPL10
🧬
Gene-Disease Validity (ClinGen)
X-linked syndromic intellectual disability · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.91). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.39LOEUF
pLI 0.909
Z-score 2.58
OE 0.00 (0.000.39)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.61Z-score
OE missense 0.22 (0.160.32)
20 obs / 89.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.000.39)
00.351.4
Missense OE0.22 (0.160.32)
00.61.4
Synonymous OE1.25
01.21.6
LoF obs/exp: 0 / 7.7Missense obs/exp: 20 / 89.6Syn Z: -1.08
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveRPL10-related syndromic intellectual developmental disorderOTHERXLR
DN
0.4587th %ile
GOF
0.1999th %ile
LOF
0.70top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.39

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

RPL10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →