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LOC107457585 meiotic recombination hotspot J [ Homo sapiens (human) ]

Gene ID: 107457585, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107457585
Gene description
meiotic recombination hotspot J
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 is located within an intron of the dynein axonemal heavy chain 5 (DNAH5) 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. Two distinct meiotic recombination hotspots were observed in this region by sperm typing, and are designated as the J1 hotspot and J2 hotspot sub-regions. 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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See LOC107457585 in Genome Data Viewer
Location:
5p15.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (13737335..13741925)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (13674365..13678953)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (13737444..13742034)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900942 Neighboring gene ribosomal protein L29 pseudogene 13 Neighboring gene dynein axonemal heavy chain 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:13858976-13860175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:14034965-14035492 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14035876-14037075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:14055383-14055883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15933 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:14108867-14110066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14119192-14119747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14118635-14119191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:14125559-14126060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14174256-14174781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22395 Neighboring gene trio Rho guanine nucleotide exchange factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22398 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:14254265-14254435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22399 Neighboring gene Sharpr-MPRA regulatory region 5150 Neighboring gene uncharacterized LOC124900943 Neighboring gene OCT4 hESC enhancer GRCh37_chr5:14346974-14347475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14358109-14358798 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:14399912-14401111 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14406263-14407462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14417547-14418093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14445485-14446012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14446013-14446539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22403 Neighboring gene Sharpr-MPRA regulatory region 14564 Neighboring gene small nucleolar RNA, C/D box 170

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. Fine-scale recombination rate differences between sexes, populations and individuals. Kong A, et al. Nature, 2010 Oct 28. PMID 20981099
  3. 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_046833.1 

    Range
    101..4691
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    13737335..13741925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    13674365..13678953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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