LOC106099064 HBG1 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106099064
Gene description: HBG1 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 20 kb upstream of this region, and the HBG2 (hemoglobin, gamma G) recombination region, located about 4 kb downstream of this region. Multiple genomic rearrangements in this region have been noted, including deletions and expansions of different sizes. The exact exchange regions and the molecular basis for all the different genomic rearrangements has not been determined, and not all recombination exchange regions are represented here. The region represented here is composed of multiple sub-regions that have been identified as NAHR exchange sites in different individuals. NAHR exchanges using the HBG1 Lepore-Kenya and similar sequences within the HBB recombination region create a fusion of the gamma A and beta hemoglobin subunits. Similarly, NAHR between either sub-regions a or b, and similar sequences within the HGB2 recombination region, can result in either deletions or expansions of the intervening sequence. NAHR between globin gene family members can lead to genomic rearrangements that can result in hemoglobinopathies and/or thalassemias. [provided by RefSeq, Sep 2015]
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Genomic context

Location:: 11p15.5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5249068..5250324)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5308419..5309679)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5270298..5271554)

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

What's a GeneRIF?

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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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Other Names

hemoglobin, gamma A 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.