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FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) [ Homo sapiens (human) ]

Gene ID: 109280160, updated on 10-Oct-2023

Summary

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Official Symbol
FRA11Bprovided by HGNC
Official Full Name
fragile site, folic acid type, rare, fra(11)(q23.3)provided by HGNC
Primary source
HGNC:HGNC:3837
See related
MIM:600651; AllianceGenome:HGNC:3837
Gene type
biological region
Feature type(s)
misc_feature: 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 known as FRA11B, and is found within the 5' untranslated region of the Cbl proto-oncogene (CBL) 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 800 have been observed. Experiments suggest that expansion of the trinucleotide repeat may cause hypermethylation of the DNA in this region. Chromosomal breakpoints in Jacobsen syndrome deletions have been mapped close to this region. [provided by RefSeq, Dec 2016]
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Genomic context

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Location:
11q23.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119206290..119206323)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119226663..119226696)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119077000..119077033)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11099 Neighboring gene NHERF family PDZ scaffold protein 4 Neighboring gene small nucleolar RNA, C/D box 150 Neighboring gene dynein regulatory complex subunit 12 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3976 Neighboring gene Cbl proto-oncogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5628 Neighboring gene RNA, U6 small nuclear 262, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119177198-119177943 Neighboring gene microRNA 6756 Neighboring gene melanoma cell adhesion molecule

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. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. Jones C, et al. Hum Mol Genet, 2000 May 1. PMID 10767345
  2. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Michaelis RC, et al. Am J Med Genet, 1998 Mar 19. PMID 9508241
  3. Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23. Voullaire LE, et al. Hum Genet, 1987 Jun. PMID 3610150
  4. Common fragile site FRA11G and rare fragile site FRA11B at 11q23.3 encompass distinct genomic regions. Fechter A, et al. Genes Chromosomes Cancer, 2007 Jan. PMID 17063465
  5. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Jones C, et al. Hum Mol Genet, 1994 Dec. PMID 7881408

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

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

  • CBL repeat instability region
  • Cbl proto-oncogene repeat instability region
  • FRA11B repeat instability region
  • fragile site, folic acid type, rare, fra(11)(q23.3) 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_052562.1 

    Range
    101..134
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    119206290..119206323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    119226663..119226696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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