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FRA10B fragile site, BrdU type, rare, fra(10)(q25.2) [ Homo sapiens (human) ]

Gene ID: 109614541, updated on 10-Oct-2023

Summary

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Official Symbol
FRA10Bprovided by HGNC
Official Full Name
fragile site, BrdU type, rare, fra(10)(q25.2)provided by HGNC
Primary source
HGNC:HGNC:3830
See related
AllianceGenome:HGNC:3830
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif, repeat_instability_region
repeat_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
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Genomic context

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Location:
10q25.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (111241825..111242928)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (113001583..113002686)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 53 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:112896634-112897319 Neighboring gene HEart disease Associated Transcript 2 Neighboring gene BTB domain containing 7 pseudogene 2 Neighboring gene uncharacterized LOC105378484

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results. Huijsdens-van Amsterdam K, et al. Genet Med, 2018 Nov. PMID 29493577
  2. Fragile sites and human disease. Debacker K, et al. Hum Mol Genet, 2007 Oct 15. PMID 17567780
  3. FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. Hewett DR, et al. Mol Cell, 1998 May. PMID 9660961
  4. Heritable fragile sites and lymphocyte culture medium containing BrdU. Scheres JM, et al. Am J Hum Genet, 1980 Jul. PMID 7395874, Free PMC Article
  5. Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression. Sutherland GR, et al. Am J Hum Genet, 1980 Jul. PMID 7395866, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expanded maternal FRA10B repeats should be added to the growing group of variants in the maternal genome that may cause false-positive noninvasive prenatal screening results.
    Title: Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • FRA10B repeat instability region
  • fragile site, BrdU type, rare, fra(10)(q25.2) repeat instability region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052670.1 

    Range
    101..1204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    111241825..111242928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Other Literature Sources
Molecular Biology Databases