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LOC111674465 DNase I hypersensitive site -80 kb upstream of CFTR [ Homo sapiens (human) ]

Gene ID: 111674465, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111674465
Gene description
DNase I hypersensitive site -80 kb upstream of CFTR
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
DHS-79.5kb
Summary
This region represents a DNase I hypersensitive site, DHS-79.5kb, located approximately 80 kb upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This region has been shown to associate with CTCF and the cohesin complex subunit RAD21, and it can form looping interactions with the CFTR promoter and the +48.9 kb and -20.9 kb CFTR regulatory elements. [provided by RefSeq, Nov 2018]
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Genomic context

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See LOC111674465 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117399495..117400694)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118714818..118716017)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117039549..117040748)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900596 Neighboring gene Wnt family member 2 Neighboring gene uncharacterized LOC105375467 Neighboring gene greater CFTR locus negative regulatory element CR15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:116962406-116962980 Neighboring gene greater CFTR locus negative regulatory element CR17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26546 Neighboring gene greater CFTR locus negative regulatory element CR18 Neighboring gene ankyrin repeat, SAM and basic leucine zipper domain containing 1 Neighboring gene CFTR -44 kb upstream enhancer Neighboring gene CFTR -35 kb upstream enhancer Neighboring gene uncharacterized LOC105375468 Neighboring gene ANKRD49 pseudogene 4 Neighboring gene DNase I hypersensitive site -20.9 kb upstream of CFTR Neighboring gene greater CFTR locus negative regulatory element NR9

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. Characterization of DNASE I hypersensitive sites in the 120kb 5' to the CFTR gene. Smith AN, et al. Biochem Biophys Res Commun, 1995 Jun 6. PMID 7540005
  2. Cell-type-specific long-range looping interactions identify distant regulatory elements of the CFTR gene. Gheldof N, et al. Nucleic Acids Res, 2010 Jul. PMID 20360044, Free PMC Article
  3. Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements. Moisan S, et al. Nucleic Acids Res, 2016 Apr 7. PMID 26615198, Free PMC Article
  4. Architectural proteins CTCF and cohesin have distinct roles in modulating the higher order structure and expression of the CFTR locus. Gosalia N, et al. Nucleic Acids Res, 2014 Sep. PMID 25081205, Free PMC Article
  5. The CFTR gene and regulation of its expression. McCarthy VA, et al. Pediatr Pulmonol, 2005 Jul. PMID 15806593

See all (16) citations in PubMed

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)

General gene information

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Other Names

  • CFTR -79.5 kb DNase I hypersensitive site
  • CFTR looping element I

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_056122.2 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    117399495..117400694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118714818..118716017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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