DSCR4 Back

Down syndrome critical region gene 4

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NCBI Description of DSCR4
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. This gene is found in this region and multiple transcripts may exist. It is mainly expressed in the placenta.

Community Annotation of DSCR4 Add / Edit DSCR4: 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

DSCR4 is highly significantly mutated in
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DSCR4 is significantly mutated in
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DSCR4 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 DSCR4