POU3F1

Chr 1

POU class 3 homeobox 1

ENSG00000185668UniProt: Q03052OMIM: 602479

Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') (By similarity). Acts as a transcriptional activator when binding cooperatively with SOX4, SOX11, or SOX12 to gene promoters (By similarity). Acts as a transcriptional repressor of myelin-specific genes (By similarity)

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 0.70
Clinical Summary— POU3F1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.56) — some intolerance to loss-of-function variants.
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Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.70LOEUF
pLI 0.565
Z-score 2.05
OE 0.15 (0.05–0.70)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
2.54Z-score
OE missense 0.42 (0.34–0.52)
64 obs / 152.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.15 (0.05–0.70)
0≤0.351.4
Missense OE?0.42 (0.34–0.52)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 1 / 6.7Missense obs/exp: 64 / 152.3Syn Z: -0.23

This gene — mechanism propensity

DN
0.5378th %ile
GOF
0.4776th %ile
LOF
0.78top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POU3F1 · 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.

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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