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CNE6
Chr X, YCNE6 enhancer downstream of SHOX
CNE6 is a conserved non-coding enhancer element located in the pseudoautosomal region of chromosomes X and Y that regulates expression of the nearby SHOX gene in various tissues. Deletions and microduplications involving this enhancer cause Leri-Weill dyschondrosteosis and idiopathic short stature, and have also been associated with autism spectrum disorders and other neurodevelopmental conditions. The inheritance pattern follows pseudoautosomal inheritance due to its location in PAR1, where both X and Y chromosomes carry the same sequence.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CNE6?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
CNE6 · 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