RPS27

Chr 1AD

ribosomal protein S27

Also known as: DBA17, MPS-1, MPS1, S27, eS27

NCBI Gene: 6232 ENSG00000177954 UniProt: P42677 OMIM: 603702

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismADLOEUF 0.641 OMIM phenotype

Clinical Summary— RPS27

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.76) — some intolerance to loss-of-function variants.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 19 VUS of 55 total submissions

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GeneReview available — RPS27

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.64LOEUF

pLI 0.757

Z-score 2.00

OE 0.00 (0.00–0.64)

Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?

0.93Z-score

OE missense 0.60 (0.44–0.84)

26 obs / 43.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.64)

0≤0.351.4

Missense OE?0.60 (0.44–0.84)

0≤0.61.4

Synonymous OE?1.67

0≤1.21.6

LoF obs/exp: 0 / 4.7Missense obs/exp: 26 / 43.2Syn Z: -2.03

This gene — mechanism propensity

0.4091th %ile

GOF

0.3094th %ile

LOF

0.71top 10%

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

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS19

Likely Benign24

Benign6

Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	0	0	0	1
Likely Pathogenic	0	0	0	0	0
VUS	0	11	6	2	19
Likely Benign	0	0	11	13	24
Benign	0	0	5	1	6
Total	1	11	22	16	50

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

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16 pathogenic / likely-pathogenic (of 22) ClinVar copy-number / structural variants overlap RPS27 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →