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LOC107548109 meiotic recombination hotspot PCP4-1 [ Homo sapiens (human) ]

Gene ID: 107548109, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107548109
Gene description
meiotic recombination hotspot PCP4-1
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 Purkinje cell protein 4 (PCP4) gene on the q arm of chromosome 22, and has been identified as a meiotic recombination hotspot by sperm typing assays and linkage disequilibrium studies. Another meiotic recombination hotspot has been observed downstream of this region, in a different intron of the PCP4 gene. 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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Location:
21q22.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39889466..39893986)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (38273620..38278140)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (41261391..41265911)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985499 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:41150548-41151747 Neighboring gene uncharacterized LOC107985500 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:41184118-41184339 Neighboring gene immunoglobulin superfamily member 5 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:41217248-41218447 Neighboring gene NANOG hESC enhancer GRCh37_chr21:41223988-41224489 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:41241262-41241415 Neighboring gene meiotic recombination hotspot PCP4-2 Neighboring gene MPRA-validated peak4411 silencer Neighboring gene Purkinje cell protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:41400415-41400914 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:41436401-41436568 Neighboring gene NANOG hESC enhancer GRCh37_chr21:41474546-41475047 Neighboring gene DS cell adhesion molecule Neighboring gene microRNA 4760 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:41709903-41711102 Neighboring gene DSCAM antisense RNA 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. High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing. Tiemann-Boege I, et al. PLoS Genet, 2006 May. PMID 16680198, 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_046874.1 

    Range
    101..4621
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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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    39889466..39893986
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791814.1 Reference GRCh38.p14 PATCHES

    Range
    25463..29983
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    38273620..38278140
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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