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LOC110121252 VISTA enhancer hs2071 [ Homo sapiens (human) ]

Gene ID: 110121252, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121252
Gene description
VISTA enhancer hs2071
Gene type
biological region
Feature type(s)
regulatory: enhancer, enhancer_blocking_element
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This locus represents a conserved genomic element that can function as an enhancer. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in transgenic mice. A sub-region was also validated as an enhancer-blocking element, which strongly blocked activation of an SV40 promoter by the HS2 beta-globin enhancer when positioned between the enhancer and promoter in transfected K562, HeLa and 293T cells. [provided by RefSeq, Sep 2018]
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Genomic context

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Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (116353609..116357055)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (117668607..117672053)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (115993663..115997109)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724434 Neighboring gene uncharacterized LOC105375463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26531 Neighboring gene Sharpr-MPRA regulatory region 1934 Neighboring gene uncharacterized LOC124900233 Neighboring gene uncharacterized LOC107986838 Neighboring gene greater CFTR locus negative regulatory element NR1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116082532-116083731 Neighboring gene greater CFTR locus negative regulatory element CR2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:116138807-116139308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18556 Neighboring gene Sharpr-MPRA regulatory region 4219 Neighboring gene caveolin 2

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. Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus. Petrykowska HM, et al. Genome Res, 2008 Aug. PMID 18436892, Free PMC Article
  2. VISTA Enhancer Browser--a database of tissue-specific human enhancers. Visel A, et al. Nucleic Acids Res, 2007 Jan. PMID 17130149, 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)

General gene information

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Other Names

  • greater CFTR locus enhancer-blocking element CR1
  • greater CFTR locus negative regulatory element CR1

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_053867.1 

    Range
    101..3547
    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
    116353609..116357055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    117668607..117672053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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