ATRNL1

Chr 10

attractin like 1

Also known as: ALP, bA338L11.1, bA454H24.1

NCBI Gene: 26033ENSG00000107518UniProt: Q5VV63

Predicted to enable Notch binding activity. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.27
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.27LOEUF
pLI 0.999
Z-score 6.81
OE 0.17 (0.11–0.27)
Highly constrained

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

Missense Constraint?
1.91Z-score
OE missense 0.80 (0.74–0.86)
566 obs / 709.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.17 (0.11–0.27)
0≤0.351.4
Missense OE?0.80 (0.74–0.86)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 13 / 77.8Missense obs/exp: 566 / 709.1Syn Z: 0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATRNL1 · 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