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LOC108228209 7q11.23 distal recombination region [ Homo sapiens (human) ]

Gene ID: 108228209, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108228209
Gene description
7q11.23 distal 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 proximal recombination region, found about 1.2 Mb centromere-proximal 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 distal HIP1-LCR. NAHR between this region and the 7q11.23 proximal 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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See LOC108228209 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 (76626824..76627191)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77905746..77906113)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76256141..76256508)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76139334-76139906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76139907-76140479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76141233-76141884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76141885-76142536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76142537-76143186 Neighboring gene uroplakin 3B Neighboring gene speedy/RINGO cell cycle regulator family member E16 Neighboring gene long intergenic non-protein coding RNA 3009 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76234980-76235481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76235482-76235982 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:76261368-76261573 Neighboring gene POM121 and ZP3 fusion Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:76302620-76303188 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:76357185-76358384 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:76513437-76513979 Neighboring gene uncharacterized LOC105375358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76583582-76584448 Neighboring gene MPRA-validated peak6614 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76586180-76587044 Neighboring gene DTX2 pseudogene 1 Neighboring gene farnesyl diphosphate synthase pseudogene 7

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
  3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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_050990.1 

    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
    76626824..76627191
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187561.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    113659..114026
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77905746..77906113
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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