FRA10B
biological-regionfragile site, BrdU type, rare, fra(10)(q25.2)
Gene summary
This biological region is a bromodeoxyuridine-inducible, distamycin A-insensitive rare fragile site found on the q arm of chromosome 10. This region is highly AT-rich and contains a variety of repeats ranging from about 16 to 52 nt in length, and is highly polymorphic, with many different alleles identified. Repeat motifs have been categorized as either TspI (T), proximal (P), expanded (e/E), SnaBI (S) or distal (D) repeats. The sequence represented in the reference genome is most similar to allele 1 described in PMID:9660961, with some differences in the E and S repeat motif composition. Alleles observed amongst the population can be divided based on their length into small normal, intermediate, long normal, or, expanded alleles. The expanded alleles result in chromosome fragility at this site, and are thought to result from expansion of the E repeat motifs of long normal alleles. Similarities in the nucleotide sequence of E motifs in this region and that of FRA16B have been noted. Expanded alleles exhibit meiotic and mitotic instability, and it has been estimated that fragility is observed above a threshold of about 75 repeat copies. Nucleotide sequence analysis of this region indicates that there are inverted AT-rich repeats that may have the ability to form hairpin structures [provided by RefSeq, Jan 2017]
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 FRA10B 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. | ||||