U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC106029312 Williams-Beuren syndrome medial block B recombination region [ Homo sapiens (human) ]

Gene ID: 106029312, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC106029312
Gene description
Williams-Beuren syndrome medial 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 similar low-copy repeat regions, the Williams-Beuren syndrome medial and telomeric block B recombination regions (WBS medial and telomeric block B recombination regions). These recombination regions are part of much larger low-copy repeat regions that are composed of three blocks; A, B, and C. The centromeric and medial low-copy repeats are in direct orientation, while the telomeric low-copy repeat is in reverse orientation. The centromeric low-copy repeat is located about 1.55 Mb upstream of this region, while the telomeric low-copy repeat is about 200 kb downstream of this region. 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' and SSN11-13 (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 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 with the downstream WBS telomeric block B recombination region, in reverse orientation. Inversion events between this region and the telomeric 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 (74733937..74869227)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75936223..76071533)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74148279..74285317)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031162-74031727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031728-74032292 Neighboring gene microRNA 10525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74075507-74076155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26175 Neighboring gene general transcription factor IIi Neighboring gene GTF2I antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74181785-74182286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74186639-74187184 Neighboring gene PHB1 pseudogene 15 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74201830-74202532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74203411-74204070 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene neutrophil cytosolic factor 1 Neighboring gene uncharacterized LOC124901673 Neighboring gene STAG3 cohesin complex component like 2 (pseudogene) Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 5 Neighboring gene speedy/RINGO cell cycle regulator family member E12

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 medial 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_042249.1 

    Range
    101..135391
    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
    74733937..74869227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    75936223..76071533
    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