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LOC107992389 chr18 t(4;18)(q35;q18) HERV-H recombination region [ Homo sapiens (human) ]

Gene ID: 107992389, updated on 17-Sep-2024

Summary

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Gene symbol
LOC107992389
Gene description
chr18 t(4;18)(q35;q18) HERV-H recombination region
Gene type
biological region
Feature type(s)
misc_recomb: non_allelic_homologous
mobile_element
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, containing a similar human endogenous retrovirus (HERV) element on the q arm of chromosome 4, the chr4 t(4;18)(q35;q18) HERV-H recombination region. Recombination events between these two regions can result in a t(4;18)(q35;q18) translocation. While only a small number of individuals with this translocation have been identified, phenotypic characteristics of those individuals included developmental delays, auditory canal atresia, hypoplasia, microcephaly, and a broad nasal bridge. [provided by RefSeq, Jun 2016]
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Genomic context

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See LOC107992389 in Genome Data Viewer
Location:
18q22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (73325048..73328058)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (73546504..73549514)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (70992283..70995293)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene NETO1 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr18:70761987-70762155 Neighboring gene long intergenic non-protein coding RNA 2864 Neighboring gene Sharpr-MPRA regulatory region 3365 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:70912438-70913029 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:70916635-70917834 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:70926050-70926267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:70931223-70931724 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49950 Neighboring gene long intergenic non-protein coding RNA 2582 Neighboring gene uncharacterized LOC105372190 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49980 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:71098754-71099424 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49987 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50021 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:71230790-71231989 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:71358526-71359026 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:71359027-71359527 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:71362654-71363853 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:71382077-71383276 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:71384186-71385385 Neighboring gene RNA, 7SL, cytoplasmic 401, pseudogene

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. A recurrent translocation is mediated by homologous recombination between HERV-H elements. Hermetz KE, et al. Mol Cytogenet, 2012 Jan 19. PMID 22260357, Free PMC Article
  2. Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication. Horbinski C, et al. Am J Med Genet A, 2008 Nov 15. PMID 18932219, Free PMC Article
  3. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Gunn SR, et al. Am J Med Genet A, 2003 Jul 1. PMID 12794705

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_050841.1 

    Range
    101..3111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    73325048..73328058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    73546504..73549514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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