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FRA12A
Chr 12ADfragile site, folic acid type, rare, fra(12)(q13.1)
This biological region found within the 5' untranslated region of the disco interacting protein 2 homolog B (DIP2B) gene on the q arm of chromosome 12, within a CpG island. This region is a rare folate-sensitive fragile site and contains a CGG/CCG trinucleotide repeat. Allelic variation occurs in this region, with repeat sizes of about n=6-23, typically observed. Expansions of the repeat have been observed, and may be associated with intellectual disability and chromosome fragility at this site. Repeat expansions are associated with CpG hypermethylation and reduced expression of the DIP2B gene product. [provided by RefSeq, Dec 2016]
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FRA12A?content-type=application/json
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FRA12A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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Links to major genomics databases and tools