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LOC114827845 VISTA enhancer hs2576 [ Homo sapiens (human) ]

Gene ID: 114827845, updated on 10-Oct-2023

Summary

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Gene symbol
LOC114827845
Gene description
VISTA enhancer hs2576
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 eye of transgenic mice. This locus also includes two accessible chromatin subregions, one of which was validated as an enhancer and the other as a silencer based on their ability to activate or 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) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159124757..159127818)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160370357..160373418)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (159545789..159548844)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TAGAP antisense RNA 1 Neighboring gene MPRA-validated peak6279 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25382 Neighboring gene MPRA-validated peak6280 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:159461684-159462883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25383 Neighboring gene T cell activation RhoGTPase activating protein Neighboring gene uncharacterized LOC112267968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25385 Neighboring gene uncharacterized LOC124901449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25386 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:159538123-159538330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:159591287-159591786 Neighboring gene Sharpr-MPRA regulatory region 9512 Neighboring gene FNDC1 antisense RNA 1 Neighboring gene fibronectin type III domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:159659176-159659360 Neighboring gene FNDC1 intronic transcript 1

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

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 active region 25387
  • ATAC-STARR-seq lymphoblastoid silent region 17749

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_065201.2 

    Range
    101..3162
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    159124757..159127818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    160370357..160373418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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