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    LOC110120627 VISTA enhancer hs246 [ Homo sapiens (human) ]

    Gene ID: 110120627, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC110120627
    Gene description
    VISTA enhancer hs246
    Gene type
    biological region
    Feature type(s)
    regulatory: enhancer
    RefSeq status
    PROVISIONAL
    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 transgenic mice. [provided by RefSeq, Jun 2015]
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    Genomic context

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    See LOC110120627 in Genome Data Viewer
    Location:
    chromosome: 2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (176075342..176076682)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (176563451..176564791)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176940070..176941410)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene thymosin beta-4-like Neighboring gene uncharacterized LOC107985830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:176937398-176937898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:176943643-176944284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176947449-176948064 Neighboring gene NUP98-HOXD13 recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:176950515-176951339 Neighboring gene even-skipped homeobox 2 Neighboring gene homeobox D13

    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

    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)

    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_053254.1 

      Range
      101..1441
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      176075342..176076682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      176563451..176564791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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