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FRA11A
Chr 11fragile site, folic acid type, rare, fra(11)(q13.3)
This biological region overlaps the chromosome 11 open reading frame 80 (C11orf80) gene on the q arm of chromosome 11, and contains a CGG/CCG trinucleotide repeat. Somatic variability at this locus has been observed, and expansions of this repeat cause fragility at this folate-sensitive fragile site. Expansions resulting in repeats with a copy number of up to 500 have been observed. Experiments suggest that expansion of the trinucleotide repeat may cause hypermethylation of the DNA in this region, and may be associated with reduced expression of the C11orf80 gene product. [provided by RefSeq, Dec 2016]
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FRA11A?content-type=application/json
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FRA11A · protein map & ClinVar variants
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External Resources
Links to major genomics databases and tools
Clinical Trials
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