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CNE-2
Chr X, YARADCNE-2 enhancer upstream of SHOX
CNE-2 is a conserved enhancer element that regulates SHOX gene expression through direct promoter interactions. Mutations including deletions and duplications cause Leri-Weill dyschondrosteosis and idiopathic short stature, with additional associations to autism spectrum disorders and neurodevelopmental conditions. The inheritance pattern is pseudoautosomal dominant due to its location in the pseudoautosomal region of the X and Y chromosomes.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CNE-2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CNE-2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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Links to major genomics databases and tools