RSL24D1

Chr 15

ribosomal L24 domain containing 1

Also known as: C15orf15, HRP-L30-iso, L30, RLP24, RPL24, RPL24L, TVAS3

NCBI Gene: 51187 ENSG00000137876 UniProt: Q9UHA3 OMIM: 613262

This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.42LOEUF

pLI 0.878

Z-score 2.83

OE 0.09 (0.03–0.42)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.26Z-score

OE missense 0.92 (0.78–1.11)

85 obs / 91.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.09 (0.03–0.42)

0≤0.351.4

Missense OE?0.92 (0.78–1.11)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 1 / 11.3Missense obs/exp: 85 / 91.9Syn Z: 0.16

Background carrier burden — how many people carry a rare variant somewhere in RSL24D1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 250

220 rare PASS variants

Rare truncating (LoF)

1 in 1,200

29 rare PASS variants

Rare synonymous (reference)

1 in 810

65 rare PASS variants

Rare missense and truncating variants are carried at similar rates in RSL24D1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 310	1 in 1,000
South Asian	~43k	1 in 260	1 in 2,100
Remaining (unassigned)	~30k	1 in 270	1 in 1,700
European (Finnish)	~27k	1 in 450	1 in 3,800
Admixed American	~22k	1 in 690	1 in 3,000
African / African American	~21k	1 in 250	1 in 990
East Asian	~20k	1 in 220	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 520	≈ 1 in 5,500
Middle Eastern	~2,884	1 in 250	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 6 coding exons well covered in gnomAD exomes; exons 3, 6 marginal. Genomes: all 6.? see exons ↓