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LOC107403242 meiotic recombination hotspot E [ Homo sapiens (human) ]

Gene ID: 107403242, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107403242
Gene description
meiotic recombination hotspot E
Gene type
biological region
Feature type(s)
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 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. This meiotic recombination hotspot tends to have a higher recombination frequency in individuals with the PRDM9 A/A genotype than observed in individuals with other genotypes, and little to no meiotic recombination hotspot activity is observed in some individuals with other PRDM9 alleles. 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, Apr 2016]
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Genomic context

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See LOC107403242 in Genome Data Viewer
Location:
8q24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (136509071..136515366)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (137625168..137631463)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (137521314..137527609)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:137207595-137208096 Neighboring gene uncharacterized LOC105375775 Neighboring gene Sharpr-MPRA regulatory region 1033 Neighboring gene NANOG hESC enhancer GRCh37_chr8:137348736-137349237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19570 Neighboring gene uncharacterized LOC124900255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28024 Neighboring gene long intergenic non-protein coding RNA 2055 Neighboring gene NANOG hESC enhancer GRCh37_chr8:137750707-137751235 Neighboring gene uncharacterized LOC124902073 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:138052445-138053644 Neighboring gene RNA, U6 small nuclear 144, 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. PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Berg IL, et al. Nat Genet, 2010 Oct. PMID 20818382, Free PMC Article
  2. 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
  3. Fine-scale recombination rate differences between sexes, populations and individuals. Kong A, et al. Nature, 2010 Oct 28. PMID 20981099
  4. 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_046823.1 

    Range
    101..6396
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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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    136509071..136515366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    137625168..137631463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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