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HBB-HS-107 beta-globin hypersensitive site -107 [ Homo sapiens (human) ]

Gene ID: 110740348, updated on 10-Oct-2023

Summary

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Gene symbol
HBB-HS-107
Gene description
beta-globin hypersensitive site -107
Gene type
biological region
Feature type(s)
regulatory: DNase_I_hypersensitive_site
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HS-107
Summary
This element represents a DNase I hypersensitive site (HS) located approximately 107 kb upstream of the HBE1 (hemoglobin, epsilon 1) gene in the beta-globin gene cluster. This HS was observed in murine erythroleukemia cells carrying human chromosome 11. It is present within a large retroviral insertion (LINE:L1PA3 type) in the human genome, and therefore the mouse genome lacks an orthologous site. [provided by RefSeq, Jul 2017]
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Genomic context

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Location:
11p15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5376180..5377379)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5435440..5436639)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5397410..5398609)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 51 subfamily B member 5 Neighboring gene amphiphysin pseudogene Neighboring gene TMEM258 pseudogene 1 Neighboring gene beta-globin hypersensitive site -111 Neighboring gene olfactory receptor family 51 subfamily M member 1 Neighboring gene olfactory receptor family 51 subfamily J member 1

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. Three-dimensional organization of gene expression in erythroid cells. de Laat W, et al. Curr Top Dev Biol, 2008. PMID 18282519
  2. Joining the loops: beta-globin gene regulation. Noordermeer D, et al. IUBMB Life, 2008 Dec. PMID 18767169
  3. Beta-globin regulation and long-range interactions. Palstra RJ, et al. Adv Genet, 2008. PMID 18282504
  4. A complex chromatin landscape revealed by patterns of nuclease sensitivity and histone modification within the mouse beta-globin locus. Bulger M, et al. Mol Cell Biol, 2003 Aug. PMID 12861010, Free PMC Article
  5. Variegated gene expression caused by cell-specific long-range DNA interactions. Noordermeer D, et al. Nat Cell Biol, 2011 Jun 26. PMID 21706023, 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_055466.1 

    Range
    101..1300
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    5376180..5377379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5435440..5436639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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