FAM25A

Chr 10

family with sequence similarity 25 member A

Also known as: bA96C23.5

NCBI Gene: 643161ENSG00000188100UniProt: B3EWG3

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.54
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.54LOEUF
pLI 0.199
Z-score 0.98
OE 0.36 (0.13–1.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.70Z-score
OE missense 0.72 (0.55–0.95)
35 obs / 48.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.13–1.54)
0≤0.351.4
Missense OE?0.72 (0.55–0.95)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 1 / 2.8Missense obs/exp: 35 / 48.7Syn Z: 0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM25A · 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