FRA10AC1 Back

fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1

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NCBI Description of FRA10AC1

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of FRA10AC1 Add / Edit FRA10AC1: Annotations

No community annotations yet for FRA10AC1.
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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

FRA10AC1 is highly significantly mutated in
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FRA10AC1 is significantly mutated in
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FRA10AC1 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 FRA10AC1