NR0B1 Back

nuclear receptor subfamily 0, group B, member 1

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NCBI Description of NR0B1

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.

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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

NR0B1 is highly significantly mutated in
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NR0B1 is significantly mutated in
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NR0B1 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 NR0B1