BTF3L4

Chr 1

basic transcription factor 3 like 4

NCBI Gene: 91408 ENSG00000134717 UniProt: Q96K17

BTF3L4 encodes a transcription factor that regulates gene expression during development. Mutations cause autosomal recessive neurodevelopmental disorder with intellectual disability, seizures, and distinctive facial features. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to reduced function.

Research

ResearchGenerating clinical summary…

DNmechanismLOEUF 0.70

Clinical Summary— BTF3L4

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.70LOEUF

pLI 0.571

Z-score 2.06

OE 0.15 (0.05–0.70)

Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?

1.86Z-score

OE missense 0.42 (0.32–0.56)

35 obs / 82.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.15 (0.05–0.70)

0≤0.351.4

Missense OE?0.42 (0.32–0.56)

0≤0.61.4

Synonymous OE?0.65

0≤1.21.6

LoF obs/exp: 1 / 6.8Missense obs/exp: 35 / 82.7Syn Z: 1.38

This gene — mechanism propensity

0.6745th %ile

GOF

0.3293th %ile

LOF

0.58top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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