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LOC108281192 PATRR4 recombination region [ Homo sapiens (human) ]

Gene ID: 108281192, updated on 17-Sep-2024

Summary

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Gene symbol
LOC108281192
Gene description
PATRR4 recombination region
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif
misc_recomb: meiotic, recombination_hotspot
misc_structure
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 found centromere-distal to the acyl-CoA synthetase long-chain family member 1 (ACSL1) gene on the q arm of chromosome 4, and is known to undergo recombination with PATRR22, resulting in a t(4;22)(q35.1;q11.2) translocation. This region contains two Alu repeats in reverse orientation with respect to one another, and it has been suggested that these repeat regions could form a cruciform or double hairpin/stem-loop structure, with the recombination breakpoint found near the center of the large loop region. A meiotic recombination hotspot is found near the breakpoint region. [provided by RefSeq, Jun 2020]
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Genomic context

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See LOC108281192 in Genome Data Viewer
Location:
4q35.1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (184875883..184879480)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188219447..188223047)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (185797037..185800634)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase long chain family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15844 Neighboring gene uncharacterized LOC105377587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185747691-185748194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15845 Neighboring gene MIR3945 host gene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22243 Neighboring gene microRNA 3945 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185814744-185815943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22244 Neighboring gene long intergenic non-protein coding RNA 1093 Neighboring gene TRPC6 pseudogene 7

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. Chromosomal translocations and palindromic AT-rich repeats. Kato T, et al. Curr Opin Genet Dev, 2012 Jun. PMID 22402448, Free PMC Article
  2. A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Sheridan MB, et al. Am J Hum Genet, 2010 Aug 13. PMID 20673865, 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. DNA recombination. Recombination initiation maps of individual human genomes. Pratto F, et al. Science, 2014 Nov 14. PMID 25395542, Free PMC Article
  5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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)

General gene information

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Other Names

  • chromosome 4 t(4;22)(q35.1;q11.2) translocation recombination region

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_051152.1 

    Range
    101..3698
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    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    184875883..184879480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    188219447..188223047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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