SFR1

Chr 10

SWI5 dependent homologous recombination repair protein 1

Also known as: C10orf78, MEI5, MEIR5, bA373N18.1

NCBI Gene: 119392ENSG00000156384UniProt: Q86XK3

Enables transcription coactivator activity. Involved in cellular response to estrogen stimulus; double-strand break repair via homologous recombination; and positive regulation of DNA-templated transcription. Located in nucleolus and nucleoplasm. Part of Swi5-Sfr1 complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.81
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?
1.81LOEUF
pLI 0.000
Z-score -0.65
OE 1.21 (0.79–1.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.42Z-score
OE missense 1.11 (0.96–1.28)
131 obs / 118.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.21 (0.79–1.81)
0≤0.351.4
Missense OE?1.11 (0.96–1.28)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 13 / 10.7Missense obs/exp: 131 / 118.0Syn Z: 0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SFR1 · 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