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CNE-5
Chr X, YARADCNE-5 enhancer upstream of SHOX
Also known as: uCNE5
CNE-5 is a conserved enhancer element that regulates expression of the SHOX gene, which is critical for skeletal development. Mutations including deletions and duplications of this regulatory region cause Leri-Weill dyschondrosteosis and idiopathic short stature, with additional associations reported in severe combined immunodeficiency, microphthalmia/coloboma, and persistent hyperplastic primary vitreous. The inheritance pattern is pseudoautosomal dominant due to its location in the pseudoautosomal region where the X and Y chromosomes share identical DNA sequences.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CNE-5?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-5 · 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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External Resources
Links to major genomics databases and tools