FAM90A1

Chr 12

family with sequence similarity 90 member A1

NCBI Gene: 55138ENSG00000171847UniProt: Q86YD7

FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
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?
1.87LOEUF
pLI 0.000
Z-score -0.56
OE 1.24 (0.71–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.43Z-score
OE missense 1.25 (1.14–1.37)
328 obs / 262.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.24 (0.71–1.87)
0≤0.351.4
Missense OE?1.25 (1.14–1.37)
0≤0.61.4
Synonymous OE?1.42
0≤1.21.6
LoF obs/exp: 8 / 6.5Missense obs/exp: 328 / 262.7Syn Z: -3.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM90A1 · 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