DSCR3 Back

Down syndrome critical region gene 3

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NCBI Description of DSCR3
The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined.

Community Annotation of DSCR3 Add / Edit DSCR3: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

DSCR3 is highly significantly mutated in
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DSCR3 is significantly mutated in
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DSCR3 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for DSCR3