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LOC106736465 15q13.2 beta inversion distal recombination region [ Homo sapiens (human) ]

Gene ID: 106736465, updated on 10-Oct-2023

Summary

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Gene symbol
LOC106736465
Gene description
15q13.2 beta inversion distal recombination region
Gene type
biological region
Feature type(s)
misc_recomb: non_allelic_homologous
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 a similar low-copy repeat region, the 15q13.2 beta inversion proximal recombination region, which is located about 120 kb centromere-proximal to this region, in reverse orientation. NAHR between these recombination regions can lead to inversion of the intervening sequence. This recombination region is located within a region of the genome that has undergone segmental duplications, and is found within a region known as BP4 (breakpoint 4). Different haplotypes, containing different genomic rearrangements within the segmental duplications have been observed within the population. An alternate haplotype with an inversion relative to the reference genome is represented as an alternate locus. [provided by RefSeq, Oct 2016]
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Genomic context

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Location:
15q13.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30542345..30554283)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28335613..28347534)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (30834548..30846486)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene WHAMM pseudogene 4 Neighboring gene MPHOSPH10 pseudogene 3 Neighboring gene golgin subfamily A member 6-like protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:30852659-30853158 Neighboring gene golgin A8 family member Q Neighboring gene 15q13.2-13.3 gamma inversion proximal recombination region Neighboring gene RNA, 7SL, cytoplasmic 796, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr15:30859663-30859840 Neighboring gene dynamin 1 pseudogene 50

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. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Antonacci F, et al. Nat Genet, 2014 Dec. PMID 25326701, 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_044980.1 

    Range
    101..12039
    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    30542345..30554283
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    2584363..2596300 complement
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    2696847..2708784 complement
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    28335613..28347534
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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