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LOC108175349 9q21.12 proximal LINE-mediated recombination region [ Homo sapiens (human) ]

Gene ID: 108175349, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108175349
Gene description
9q21.12 proximal LINE-mediated recombination region
Gene type
biological region
Feature type(s)
misc_recomb: non_allelic_homologous
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 known to undergo non-allelic homologous recombination (NAHR) with another region, containing a similar long interspersed element (LINE) element in direct orientation relative to this region. Both recombination regions are found within an intron of the amyloid beta precursor protein binding family A member 1 (APBA1) gene, on the q arm of chromosome 9. Recombination with the 9q21.12 distal LINE-mediated recombination region can result in a 29 kb deletion or duplication of the intervening sequence. Recombination breakpoints of individuals with genomic rearrangements are indicated as NAHR sub-regions on the record. [provided by RefSeq, Jun 2016]
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Genomic context

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Location:
9q21.12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (69477111..69483129)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (81643746..81649757)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (72092027..72098045)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene endosomal transmembrane epsin interactor 1 Neighboring gene uncharacterized LOC124902177 Neighboring gene Sharpr-MPRA regulatory region 1664 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:72081305-72082504 Neighboring gene amyloid beta precursor protein binding family A member 1 Neighboring gene uncharacterized LOC124902178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:72120629-72121248 Neighboring gene 9q21.12 distal LINE-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19935 Neighboring gene protein prenyltransferase alpha subunit repeat containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19936 Neighboring gene uncharacterized LOC105376076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:72375949-72376804 Neighboring gene Sharpr-MPRA regulatory region 8756 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:72377659-72378514 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:72378515-72379369

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. Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Startek M, et al. Nucleic Acids Res, 2015 Feb 27. PMID 25613453, 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

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_050922.1 

    Range
    101..6119
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    69477111..69483129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    81643746..81649757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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