LOC106099063 HBD recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106099063
Gene description: HBD 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 other regions within this gene family, such as the HBB (hemoglobin, beta) recombination region, which is located about 7.4 kb upstream of this region. This biological region completely overlaps with the HBD (hemoglobin, delta) gene. NAHR between these regions can result in genomic rearrangements, including deletions of the intervening sequence, creating gene fusions of the hemoglobin delta and beta subunits. The region represented here is composed of multiple sub-regions that have been identified as NAHR exchange sites in different individuals. NAHR exchanges within the HBD Lepore-Boston-Washington, HBD Lepore-ARUP, HBD Lepore-Baltimore, and HBD Lepore-Hollandia sub-regions, and similar sequences within the HBB recombination region, create unique fusions of the delta and beta hemoglobin subunits. Deletions of nearby regions have also been described, some of which are thought to be the result of non-homologous recombination events. [provided by RefSeq, Sep 2015]
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Genomic context

Location:: 11p15.5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5233984..5234365)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5293357..5293738)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5255214..5255595)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

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General gene information

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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.