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    LOC110120878 VISTA enhancer hs483 [ Homo sapiens (human) ]

    Gene ID: 110120878, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC110120878
    Gene description
    VISTA enhancer hs483
    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. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic limb of transgenic mice. Two subregions marked by the H3K4me1 histone modification were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. [provided by RefSeq, Nov 2022]
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    Genomic context

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    See LOC110120878 in Genome Data Viewer
    Location:
    chromosome: 12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (114685997..114687700)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (114663073..114664776)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (115124394..115125300)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903026 Neighboring gene NANOG hESC enhancer GRCh37_chr12:115079511-115080012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:115109316-115109876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:115109877-115110436 Neighboring gene NANOG hESC enhancer GRCh37_chr12:115113537-115114038 Neighboring gene TBX3 promoter region Neighboring gene T-box transcription factor 3 Neighboring gene TBX3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:115134740-115135593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:115135594-115136448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:115136449-115137301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:115138140-115138949 Neighboring gene uncharacterized LOC105369999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:115173261-115174104 Neighboring gene small nucleolar RNA SNORA27

    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

    • H3K4me1 hESC enhancer GRCh37_chr12:115123802-115124654
    • H3K4me1 hESC enhancer GRCh37_chr12:115124655-115125505

    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_053501.2 

      Range
      101..1804
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      114685997..114687700
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      114663073..114664776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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