RIOK1

Chr 6

RIO kinase 1

Also known as: AD034, RIO1, RRP10, bA288G3.1

NCBI Gene: 83732ENSG00000124784UniProt: Q9BRS2

The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.13
OE 0.78 (0.57–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.51Z-score
OE missense 0.92 (0.83–1.01)
284 obs / 309.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.57–1.09)
0≤0.351.4
Missense OE?0.92 (0.83–1.01)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 25 / 31.9Missense obs/exp: 284 / 309.2Syn Z: 1.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RIOK1 · protein map & ClinVar variants

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

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

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