ATXN1L

Chr 16

ataxin 1 like

Also known as: BOAT, BOAT1

NCBI Gene: 342371ENSG00000224470UniProt: P0C7T5OMIM: 614301

ATXN1L encodes a chromatin-binding protein that represses Notch signaling and is involved in brain development. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.31), but no specific disease phenotypes have been definitively established for ATXN1L mutations in humans.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.30
Clinical Summary— ATXN1L
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.30LOEUF
pLI 0.979
Z-score 3.80
OE 0.10 (0.04–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.08Z-score
OE missense 0.84 (0.77–0.93)
323 obs / 382.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.04–0.30)
0≤0.351.4
Missense OE0.84 (0.77–0.93)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 2 / 20.6Missense obs/exp: 323 / 382.5Syn Z: 1.43
DN
0.3097th %ile
GOF
0.2497th %ile
LOF
0.78top 5%

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

LOFprediction above median · LOEUF 0.30

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATXN1L · 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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