RPL10A

Chr 6

ribosomal protein L10a

Also known as: CSA19, Csa-19, L10A, NEDD6, uL1

NCBI Gene: 4736ENSG00000198755UniProt: P62906

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

17
ClinVar variants
6
Pathogenic / LP
0.85
pLI score
0
Active trials
Clinical Summary— RPL10A
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 11 VUS of 17 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.44LOEUF
pLI 0.854
Z-score 2.75
OE 0.09 (0.03–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.06Z-score
OE missense 0.47 (0.38–0.59)
58 obs / 122.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.09 (0.03–0.44)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.47 (0.38–0.59)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 1 / 10.7Missense obs/exp: 58 / 122.2Syn Z: -0.62

ClinVar Variant Classifications

17 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS11
5
Pathogenic
1
Likely Pathogenic
11
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
0
9
2
0
11
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total098017

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

View in ClinVar →

Protein Context — Lollipop Plot

RPL10A · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Pervasive changes of mRNA splicing in upf1-deficient zebrafish identify rpl10a as a regulator of T cell development.
Lawir DF et al.·Proc Natl Acad Sci U S A
2020Functional
[Identification of core pathogenic genes and pathways in elderly osteoporosis based on bioinformatics analysis].
Wang C et al.·Zhonghua Yu Fang Yi Xue Za Zhi
2023
Identification of three small nucleolar RNAs (snoRNAs) as potential prognostic markers in diffuse large B-cell lymphoma.
Li MW et al.·Cancer Med
2023
Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.
Gao XR et al.·Nat Commun
2022
Translation elongation factor eEF1Bα is identified as a novel prognostic marker of gastric cancer.
Jia L et al.·Int J Biol Macromol
2019
MYC-regulated genes involved in liver cell dysplasia identified in a transgenic model of liver cancer.
Hunecke D et al.·J Pathol
2012Functional
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L et al.·Am J Hum Genet
2010
A Novel 8-Gene Prognostic Signature for Survival Prediction of Uveal Melanoma.
Tang Z et al.·Anal Cell Pathol (Amst)
2021
Quantitative proteomics reveals the novel co-expression signatures in early brain development for prognosis of glioblastoma multiforme.
Yu X et al.·Oncotarget
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools