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LOC106029311 Williams-Beuren syndrome centromeric block B recombination region [ Homo sapiens (human) ]

Gene ID: 106029311, updated on 10-Oct-2023

Summary

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Gene symbol
LOC106029311
Gene description
Williams-Beuren syndrome centromeric 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), which is located about 1.55 Mb downstream of this region. These recombination regions are part of much larger low-copy repeat regions that are composed of three blocks; A, B, and C. Another similar low-copy repeat region, the Williams-Beuren syndrome telomeric low-copy repeat region is found in reverse orientation, further downstream. The region represented here is composed of multiple sub-regions that have been identified as NAHR exchange sites in different individuals. The sub-regions were identified using site-specific nucleotide (SSN) assays, and are named SSN1-SSN3, SSN3-SSN6, SSN6-SSN7, SSN7-SSN9, SSN9-SSN11 (PMID:12796854). This region also contains two meiotic recombination hotspots, one overlapping SSN1-SSN3 and the other overlapping SSN3-SSN6. NAHR between the centromeric and medial recombination 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. 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]
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Genomic context

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See LOC106029311 in Genome Data Viewer
Location:
7q11.23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73180553..73279974)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74380762..74480156)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72594593..72693999)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 6 Neighboring gene speedy/RINGO cell cycle regulator family member E10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72568113-72568885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72571197-72571900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72578487-72578990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74642901-74643515 Neighboring gene general transcription factor IIi pseudogene 4 Neighboring gene PHB1 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74598481-74598982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74591815-74592314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74591313-74591814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72632401-72632902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18245 Neighboring gene neutrophil cytosolic factor 1B (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72661597-72662585 Neighboring gene GTF2I repeat domain containing 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72698447-72699037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72711681-72712181 Neighboring gene POM121 transmembrane nucleoporin B (pseudogene) Neighboring gene NOP2/Sun RNA methyltransferase 5 Neighboring gene ribosomal protein L7a pseudogene 77 Neighboring gene tripartite motif containing 50

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. 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

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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

  • WBS centromeric block B recombination 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_042248.1 

    Range
    101..99522
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    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
    73180553..73279974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    74380762..74480156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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