RPL10

Chr XXLR

ribosomal protein L10

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

NCBI Gene: 6134ENSG00000147403UniProt: P27635

This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Primary Disease Associations & Inheritance

{Autism, susceptibility to, X-linked 5}MIM #300847
Intellectual developmental disorder, X-linked syndromic 35MIM #300998
XLR
UniProtAutism, X-linked 5
0
Active trials
49
Pathogenic / LP
98
ClinVar variants
16
Pubs (1 yr)
2.6
Missense Z
0.39
LOEUF
Clinical Summary— RPL10
🧬
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.
📋
ClinVar Variants
49 Pathogenic / Likely Pathogenic· 37 VUS of 98 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

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

More LoF-intolerant than ~75% of genes

Missense Constraint
2.61Z-score
OE missense 0.22 (0.16–0.32)
20 obs / 89.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.39)
0≤0.351.4
Missense OE0.22 (0.16–0.32)
0≤0.61.4
Synonymous OE1.25
0≤1.21.6
LoF obs/exp: 0 / 7.7Missense obs/exp: 20 / 89.6Syn Z: -1.08
LOF
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

98 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic44
Likely Pathogenic5
VUS37
Likely Benign8
Benign4
44
Pathogenic
5
Likely Pathogenic
37
VUS
8
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
43
0
44
Likely Pathogenic
0
3
2
0
5
VUS
1
16
20
0
37
Likely Benign
0
2
3
3
8
Benign
0
3
1
0
4
Total12569398

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

RPL10 · protein map & ClinVar variants

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

Gene2Phenotype Curations

RPL10-related syndromic intellectual developmental disorder

definitive
Monoallelic X HemizygousUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients