BARX1 encodes a transcription factor that regulates craniofacial development, tooth formation, and stomach organogenesis. Mutations cause autosomal dominant non-syndromic tooth agenesis, particularly affecting molar development. The gene shows moderate constraint against loss-of-function variants, consistent with its role in developmental processes.

OMIMResearchSummary from UniProt
LOFmechanismLOEUF 0.68
Clinical SummaryBARX1
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.59) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.68LOEUF
pLI 0.586
Z-score 2.09
OE 0.14 (0.050.68)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
1.07Z-score
OE missense 0.71 (0.590.86)
75 obs / 105.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.14 (0.050.68)
00.351.4
Missense OE0.71 (0.590.86)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 1 / 6.9Missense obs/exp: 75 / 105.9Syn Z: 0.17
DN
0.5180th %ile
GOF
0.3987th %ile
LOF
0.72top 10%

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

Protein Context — Lollipop Plot

BARX1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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