FRAXE
biological-regionfragile site, folic acid type, rare, fra(X)(q28) E
Gene summary
This biological region is found near the 5' regulatory region of the AF4/FMR2 family member 2 (AFF2) gene on the q arm of the X chromosome. This region is a rare folate-sensitive fragile site and contains a highly polymorphic (CCG)n repeat, with most normal alleles containing less than 25 triplet repeat units. Expansion of the CCG/CGG repeat to copy numbers greater than 200 has been observed and causes fragility at this site. Hypermethylation of a CpG island near the expanded allele can lead to transcriptional silencing of the AFF2 gene. Intellectual disability has been observed in some individuals with the expanded allele, but a wide range of clinical manifestations have also been reported. [provided by RefSeq, Dec 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FRAXE variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||