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LOC110121071 VISTA enhancer hs1348 [ Homo sapiens (human) ]

Gene ID: 110121071, updated on 15-Mar-2024

Summary

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Gene symbol
LOC110121071
Gene description
VISTA enhancer hs1348
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 heart 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]
Orthologs
mouse all
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Genomic context

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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (50613290..50616899)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (50609416..50613026)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (50840428..50844037)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:50163910-50164578 Neighboring gene ribosomal protein L7 pseudogene 13 Neighboring gene VISTA enhancer hs2343 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:50231574-50232307 Neighboring gene neurexin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:50311271-50311784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:50311785-50312297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:50572921-50573860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:50573861-50574798 Neighboring gene MPRA-validated peak3699 silencer Neighboring gene uncharacterized LOC101927089 Neighboring gene MT-CO1 pseudogene 42 Neighboring gene microRNA 8485

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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Homology

Other Names

  • OCT4-NANOG hESC enhancer GRCh37_chr2:50842311-50842907

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_053691.1 

    Range
    101..3710
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    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
    50613290..50616899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    50609416..50613026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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