SAXO1

Chr 9

stabilizer of axonemal microtubules 1

Also known as: C9orf138, FAM154A

NCBI Gene: 158297ENSG00000155875UniProt: Q8IYX7

Enables microtubule binding activity. Involved in several processes, including cold acclimation; positive regulation of cilium assembly; and protein stabilization. Located in microtubule cytoskeleton and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.85
LOEUF
Multiple*
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?
1.85LOEUF
pLI 0.000
Z-score -1.63
OE 1.40 (1.03–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.70Z-score
OE missense 1.46 (1.34–1.58)
402 obs / 275.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.40 (1.03–1.85)
0≤0.351.4
Missense OE?1.46 (1.34–1.58)
0≤0.61.4
Synonymous OE?1.23
0≤1.21.6
LoF obs/exp: 27 / 19.3Missense obs/exp: 402 / 275.7Syn Z: -1.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAXO1 · 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