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LOC108228208 7q11.23 proximal recombination region [ Homo sapiens (human) ]

Gene ID: 108228208, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108228208
Gene description
7q11.23 proximal recombination region
Gene type
biological region
Feature type(s)
misc_recomb: 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 another region, the 7q11.23 distal recombination region, found about 1.2 Mb centromere-distal to this region, in direct orientation relative to this region. This region is found within a GC-rich region of a low-copy repeat, known as the proximal HIP1-LCR. NAHR between this region and the 7q11.23 distal recombination region can result in deletions and duplications of the intervening sequence. Since both of these regions are located centromere-distal to the Williams-Beuren syndrome recombination regions, the 1.2 Mb deletion that can result from NAHR between this region and the 7q11.23 distal recombination region is known as the distal 7q11.23 deletion. This deletion involves multiple genes, including the huntingtin interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (YWHAG) genes. Phenotypic consequences of the deletion can include developmental delays, epilepsy and neurobehavioral problems, but incomplete penetrance and variable expressivity has been observed. A recombination breakpoint from individuals with the genomic rearrangement is indicated as an NAHR sub-region on the record. [provided by RefSeq, Jun 2016]
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Genomic context

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Location:
7q11.23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75442265..75442632)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76729541..76729908)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75071539..75071906)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75024300-75024907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75024908-75025514 Neighboring gene tripartite motif containing 73 Neighboring gene uncharacterized LOC124901676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75039418-75040358 Neighboring gene NSUN5 pseudogene 1 Neighboring gene POM121 transmembrane nucleoporin C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75083199-75083700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75115301-75115800 Neighboring gene speedy/RINGO cell cycle regulator family member E5 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18297 Neighboring gene Sharpr-MPRA regulatory region 5953

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. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Fusco C, et al. Eur J Hum Genet, 2014 Jan. PMID 23756441, Free PMC Article
  2. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Ramocki MB, et al. Am J Hum Genet, 2010 Dec 10. PMID 21109226, Free PMC Article

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)

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_050989.1 

    Range
    101..468
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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
    75442265..75442632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    76729541..76729908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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