SLX9

Chr 21

SLX9 ribosome biogenesis factor

Also known as: C21orf70, FAM207A, PRED56

NCBI Gene: 85395ENSG00000160256UniProt: Q9NSI2

Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.94
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?
0.94LOEUF
pLI 0.076
Z-score 1.69
OE 0.36 (0.17–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.05Z-score
OE missense 1.01 (0.88–1.17)
136 obs / 134.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.36 (0.17–0.94)
0≤0.351.4
Missense OE?1.01 (0.88–1.17)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 3 / 8.2Missense obs/exp: 136 / 134.3Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLX9 · 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