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LOC110120776 VISTA enhancer hs809 [ Homo sapiens (human) ]

Gene ID: 110120776, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110120776
Gene description
VISTA enhancer hs809
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic branchial arch and cranial nerve of transgenic mice. Two subregions were also shown to be active enhancers by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in human embryonic stem cells, where both subregions are marked by the H3K27ac histone modification and one is additionally associated with the NANOG transcription factor. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (87329368..87331362)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (87172067..87174064)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (87795192..87796737)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1140 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:87612561-87613060 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:87614396-87615060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:87616858-87617456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:87617457-87618055 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:87666183-87666684 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:87666685-87667184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1043 Neighboring gene long intergenic non-protein coding RNA 2801 Neighboring gene Sharpr-MPRA regulatory region 9281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1045 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:87794473-87795050 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:87797046-87797684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:87797685-87798323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1049 Neighboring gene VISTA enhancers hs174 and hs322 Neighboring gene LIM domain only 4 Neighboring gene long intergenic non-protein coding RNA 1364 Neighboring gene uncharacterized LOC105378833

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. VISTA Enhancer Browser--a database of tissue-specific human enhancers. Visel A, et al. Nucleic Acids Res, 2007 Jan. PMID 17130149, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • ATAC-STARR-seq lymphoblastoid silent region 1047
  • H3K27ac hESC enhancer GRCh37_chr1:87795051-87795626
  • NANOG-H3K27ac hESC enhancer GRCh37_chr1:87796407-87797045

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_053401.2 

    Range
    101..2095
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    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    87329368..87331362
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    87172067..87174064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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