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LOC114827853 VISTA enhancer hs2333 [ Homo sapiens (human) ]

Gene ID: 114827853, updated on 10-Oct-2023

Summary

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Gene symbol
LOC114827853
Gene description
VISTA enhancer hs2333
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 forebrain and hindbrain of transgenic mice. A subregion associated with the OCT4 and NANOG transcription factors was also shown to be an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
chromosome: 21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37434074..37436355)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35816417..35818698)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38806376..38808657)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905018 Neighboring gene uncharacterized LOC124905019 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38737611-38738536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13302 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38739461-38740385 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38823452-38824003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38829141-38829654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38829655-38830166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13307 Neighboring gene uncharacterized LOC105372797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:38856065-38856652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18453 Neighboring gene KCNJ6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38918848-38919348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38919349-38919849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18455 Neighboring gene uncharacterized LOC105372798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13308 Neighboring gene Sharpr-MPRA regulatory region 302

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. 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 hESC enhancer GRCh37_chr21:38807333-38807961

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_065209.1 

    Range
    101..2382
    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    37434074..37436355
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    35816417..35818698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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