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CNE8
Chr X, YADARCNE8 enhancer downstream of SHOX
Also known as: ECR7
CNE8 is a conserved genomic element located in the pseudoautosomal region of chromosomes X and Y that functions as an enhancer for the nearby SHOX gene. Deletions and duplications of this element cause Leri-Weill dyschondrosteosis, idiopathic short stature, and Langer mesomelic dysplasia, primarily affecting skeletal development. The inheritance pattern is pseudoautosomal, meaning the element behaves like an autosomal gene despite being located on the sex chromosomes.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CNE8?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
CNE8 · 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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External Resources
Links to major genomics databases and tools