OTX1
Chr 2orthodenticle homeobox 1
Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'
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.
Some data sources returned errors (2)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.855
Z-score 2.75
OE 0.09 (0.03–0.44)
More LoF-intolerant than ~75% of genes
Missense Constraint?
1.39Z-score
OE missense 0.73 (0.64–0.84)
156 obs / 212.9 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.09 (0.03–0.44)
0≤0.351.4
Missense OE?0.73 (0.64–0.84)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 1 / 10.7Missense obs/exp: 156 / 212.9Syn Z: 0.94
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
OTX1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools