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CNE7
Chr X, YADARCNE7 enhancer downstream of SHOX
Also known as: ECR1, ECR1/CNE7
CNE7 is a conserved noncoding enhancer element in the pseudoautosomal region that regulates SHOX gene expression through chromatin looping interactions. Mutations including deletions and duplications cause Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and idiopathic short stature, with inheritance following pseudoautosomal dominant or recessive patterns. CNE7 variants 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/CNE7?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
CNE7 · 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