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LOC110121137 VISTA enhancer hs1543 [ Homo sapiens (human) ]

Gene ID: 110121137, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121137
Gene description
VISTA enhancer hs1543
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. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic brain and neural tube of transgenic mice. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where both are associated with the OCT4 and NANOG transcription factors and are marked by the H3K27ac histone modification, with one additionally marked by H3K4me1. Another subregion displayed repressive activity by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Oct 2022]
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Genomic context

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Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194211571..194213668)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (196908298..196910395)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (193929360..193931457)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 215, pseudogene Neighboring gene uncharacterized LOC107986172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193878773-193879704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193893180-193894093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15018 Neighboring gene Sharpr-MPRA regulatory region 6697 Neighboring gene long intergenic non-protein coding RNA 2036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:193932031-193932834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193949267-193949768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193949769-193950268 Neighboring gene long intergenic non-protein coding RNA 2037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:193988835-193989766 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:193994438-193995637 Neighboring gene long intergenic non-protein coding RNA 2048

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:193929613-193930418
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:193930419-193931224
  • Sharpr-MPRA regulatory region 8130

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_053756.1 

    Range
    101..2198
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    194211571..194213668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    196908298..196910395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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