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    LOC108165613 11q24.3 distal HERV-mediated recombination region [ Homo sapiens (human) ]

    Gene ID: 108165613, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC108165613
    Gene description
    11q24.3 distal HERV-mediated recombination region
    Gene type
    biological region
    Feature type(s)
    misc_feature: nucleotide_motif
    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 about 190 kb centromere-proximal to this region, in direct orientation, on the q arm of chromosome 11. Recombination with the 11q24.3 proximal HERV-mediated recombination region can result in deletions and duplications of the intervening sequence. Recombination breakpoints of individuals with genomic rearrangements are indicated as NAHR sub-regions on the record. A region with sequence similarity to the PR domain 9 (PRDM9) A binding motif (also known as the linkage disequilibrium motif, CCNCCNTNNCCNC) that is found near the NAHR breakpoint regions has been noted. [provided by RefSeq, Jun 2016]
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    Genomic context

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    Location:
    11q24.3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (130753498..130754328)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (130789242..130790072)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (130623393..130624223)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2873 Neighboring gene uncharacterized LOC105369575 Neighboring gene NANOG hESC enhancer GRCh37_chr11:130628565-130629153 Neighboring gene uncharacterized LOC105369576 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:130651600-130652799 Neighboring gene protein phosphatase 1 regulatory subunit 10 pseudogene 1

    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. Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. Campbell IM, et al. BMC Biol, 2014 Sep 23. PMID 25246103, Free PMC Article
    2. A common sequence motif associated with recombination hot spots and genome instability in humans. Myers S, et al. Nat Genet, 2008 Sep. PMID 19165926

    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_050891.1 

      Range
      101..931
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      130753498..130754328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      130789242..130790072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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