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LOC107457587 meiotic recombination hotspot L [ Homo sapiens (human) ]

Gene ID: 107457587, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107457587
Gene description
meiotic recombination hotspot L
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif
misc_recomb: meiotic
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 located within an intron of the collagen and calcium binding EGF domains 1 (CCBE1) gene, and has been identified as a meiotic recombination hotspot by sperm typing assays, molecular assays in male germ cells to identify meiotic double strand breaks, and linkage disequilibrium studies. Meiotic hotspot activity can vary widely amongst individuals and can be influenced by both the nucleotide sequence at the meiotic recombination hotspot and the specific alleles present at the PR domain 9 (PRDM9) locus. [provided by RefSeq, Mar 2016]
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Genomic context

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Location:
18q21.32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (59545520..59548337)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (59748154..59750981)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (57212752..57215569)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9496 Neighboring gene lectin, mannose binding 1 Neighboring gene uncharacterized LOC107985156 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:57053866-57054862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:57122524-57123295 Neighboring gene meiotic recombination hotspot N Neighboring gene collagen and calcium binding EGF domains 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:57139771-57139930 Neighboring gene NANOG hESC enhancer GRCh37_chr18:57214689-57215202 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:57373821-57374004 Neighboring gene ACTB pseudogene 3 Neighboring gene ribosomal protein S26 pseudogene 54

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. Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. Webb AJ, et al. Proc Natl Acad Sci U S A, 2008 Jul 29. PMID 18650392, Free PMC Article
  2. Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Berg IL, et al. Proc Natl Acad Sci U S A, 2011 Jul 26. PMID 21750151, Free PMC Article
  3. A common sequence motif associated with recombination hot spots and genome instability in humans. Myers S, et al. Nat Genet, 2008 Sep. PMID 19165926
  4. Fine-scale recombination rate differences between sexes, populations and individuals. Kong A, et al. Nature, 2010 Oct 28. PMID 20981099
  5. DNA recombination. Recombination initiation maps of individual human genomes. Pratto F, et al. Science, 2014 Nov 14. PMID 25395542, 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_046835.1 

    Range
    101..2918
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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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    59545520..59548337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    59748154..59750981
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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