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CNE9
Chr X, YADARCNE9 enhancer downstream of SHOX
Also known as: ECS4, ECS4/CNE9
CNE9 is a conserved regulatory element that functions as an enhancer of SHOX gene expression and is located within the pseudoautosomal region 1 (PAR1) of chromosomes X and Y. Mutations including deletions and microduplications of this element cause Leri-Weill dyschondrosteosis, idiopathic short stature, and Langer mesomelic dysplasia, affecting skeletal development and growth. The inheritance pattern is pseudoautosomal dominant or recessive, and mutations have also been implicated in autism spectrum disorders and related neurodevelopmental conditions.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CNE9?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
CNE9 · 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
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