U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC106029313 Williams-Beuren syndrome telomeric block B recombination region [ Homo sapiens (human) ]

Gene ID: 106029313, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC106029313
Gene description
Williams-Beuren syndrome telomeric block B recombination region
Gene type
biological region
Feature type(s)
misc_recomb: meiotic, non_allelic_homologous
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the Williams-Beuren syndrome medial block B recombination region (WBS medial block B recombination region). These recombination regions are part of much larger low-copy repeat regions that are composed of three blocks; A, B, and C. There are three WBS low-copy repeat regions on chromosome 7, the WBS centromeric, medial, and telomeric low copy repeats. The centromeric and medial low-copy repeats are both in reverse orientation relative to this region, and are located about 1.75 and 1.55 Mb upstream, respectively. The region represented here contains sequences recognized as an NAHR exchange site, identified using a site-specific nucleotide (SSN) assays as well as an overlapping meiotic recombination hotspot. The NAHR exchange site is named SSN11'-SSN13' (PMID:12796854). NAHR between the centromeric and medial regions can result in either deletions or duplications of the intervening sequences, leading to either Williams-Beuren syndrome (WBS) or 7q11.23 duplication syndrome, respectively. While the 1.55 Mb deletion resulting from NAHR between the centromeric and medial B blocks is most commonly observed in individuals with WBS, inversions and other deletions have also been reported. NAHR has also been observed between this region and the WBS medial block B recombination region, leading to inversions. Inversion events between this region and the medial region have been observed in about one-third of the progenitors who transmit the WBS chromosome. WBS is characterized by distinct facial features, cognitive deficits together with high verbal ability, poor visuospatial abilities, and heart defects. In contrast, individuals with duplications of the same region exhibit delayed speech and strong visuospatial abilities. NAHR events have been observed from both maternal and paternal origins, and from both inter- and intrachromosomal recombination events. [provided by RefSeq, Sep 2015]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q11.23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75074866..75112687)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76278857..76316630)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74490704..74528481)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74387918-74388452 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74408133-74408753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74836976-74837481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74785909-74786408 Neighboring gene RCC1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74267014-74267744 Neighboring gene GTF2I repeat domain containing 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74578607-74579107 Neighboring gene neutrophil cytosolic factor 1C (pseudogene) Neighboring gene general transcription factor IIi pseudogene 1 Neighboring gene PHB1 pseudogene 6

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Familial 7q11.23 duplication with variable phenotype. Patil SJ, et al. Am J Med Genet A, 2015 Nov. PMID 26109321
  2. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Van der Aa N, et al. Eur J Med Genet, 2009 Mar-Jun. PMID 19249392
  3. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Berg JS, et al. Genet Med, 2007 Jul. PMID 17666889
  4. Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development. Osborne LR, et al. Expert Rev Mol Med, 2007 Jun 13. PMID 17565757, Free PMC Article
  5. Severe expressive-language delay related to duplication of the Williams-Beuren locus. Somerville MJ, et al. N Engl J Med, 2005 Oct 20. PMID 16236740, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • WBS telomeric block B recombination region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_042250.1 

    Range
    101..37922
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    75074866..75112687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    76278857..76316630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases