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LOC108491825 enhancer-blocking element 11-1-2 overlapping APOA5 [ Homo sapiens (human) ]

Gene ID: 108491825, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108491825
Gene description
enhancer-blocking element 11-1-2 overlapping APOA5
Gene type
biological region
Feature type(s)
regulatory: 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 genomic region overlaps the 5' region of the APOA5 (apolipoprotein A5) gene on chromosome 11. It was identified as a putative enhancer-blocking chromatin insulator based on CTCF association and DNase I hypersensitivity in multiple cell types by ChIP-seq and genome-wide chromatin accessibility assays. It was validated as a functional enhancer-blocking element based on its ability to block activity of an enhancer when positioned between the enhancer and a promoter in a lentiviral reporter assay. [provided by RefSeq, Aug 2016]
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Genomic context

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Location:
11q23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116791046..116792831)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116805670..116807455)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116661762..116663547)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BUD13 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5555 Neighboring gene BUD13 divergent transcript Neighboring gene ZPR1 zinc finger Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3924 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:116658726-116658949 Neighboring gene apolipoprotein A5 Neighboring gene lncRNA regulator of hepatic lineages 1 Neighboring gene apolipoprotein A4

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. Identification and characterization of enhancer-blocking insulators to reduce retroviral vector genotoxicity. Groth AC, et al. PLoS One, 2013. PMID 24098520, Free PMC Article
  2. Widespread plasticity in CTCF occupancy linked to DNA methylation. Wang H, et al. Genome Res, 2012 Sep. PMID 22955980, Free PMC Article
  3. The accessible chromatin landscape of the human genome. Thurman RE, et al. Nature, 2012 Sep 6. PMID 22955617, 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

  • chromatin insulator 11-1-2

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_051344.1 

    Range
    101..1886
    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
    116791046..116792831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    116805670..116807455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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