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LOC108165612 11q24.3 proximal HERV-mediated recombination region [ Homo sapiens (human) ]

Gene ID: 108165612, updated on 17-Sep-2024

Summary

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Gene symbol
LOC108165612
Gene description
11q24.3 proximal 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-distal to this region, in direct orientation, on the q arm of chromosome 11. Recombination with the 11q24.3 distal 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. Regions with sequence similarity to the PR domain 9 (PRDM9) A binding motif (also known as the linkage disequilibrium motif, CCNCCNTNNCCNC) that are found near the NAHR breakpoint regions have been noted. [provided by RefSeq, Jun 2016]
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Genomic context

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See LOC108165612 in Genome Data Viewer
Location:
11q24.3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (130564387..130565206)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (130600111..130600930)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (130434282..130435101)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:130392807-130393434 Neighboring gene MPRA-validated peak1516 silencer Neighboring gene BCL2 antagonist/killer 1 pseudogene 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:130470970-130471655 Neighboring gene microRNA 8052 Neighboring gene long intergenic non-protein coding RNA 2873

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_050890.1 

    Range
    101..920
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    130564387..130565206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    130600111..130600930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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