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LOC110121484 VISTA enhancer hs2101 [ Homo sapiens (human) ]

Gene ID: 110121484, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121484
Gene description
VISTA enhancer hs2101
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 cranial nerve, dorsal root ganglion, eye, facial mesenchyme, forebrain, hindbrain, midbrain, neural tube and trigeminal V ganglion of transgenic mice. Three subregions were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where all are marked by the H3K4me1 histone modification and one is additionally marked by H3K27ac. [provided by RefSeq, Nov 2022]
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Genomic context

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See LOC110121484 in Genome Data Viewer
Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32976112..32981064)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34702793..34707745)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31563918..31568870)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31446596-31447408 Neighboring gene EF-hand calcium binding domain 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31462588-31463558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31463559-31464528 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60089 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31467763-31467940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31474801-31475642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31479663-31480402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31480940-31481452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481453-31481964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481965-31482476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31482477-31482988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31494551-31495051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31505783-31506299 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31538047-31538855 Neighboring gene uncharacterized LOC124904887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31557307-31558259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31558260-31559211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31559855-31560362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31560363-31560871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31588518-31589018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31589019-31589519 Neighboring gene Sad1 and UNC84 domain containing 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31594895-31595890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31595891-31596885 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31601764-31602328 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31602329-31602894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31605961-31606556 Neighboring gene BPI fold containing family B member 2

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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31565785-31566411
  • H3K4me1 hESC enhancer GRCh37_chr20:31567356-31567856
  • H3K4me1 hESC enhancer GRCh37_chr20:31567857-31568357

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_054097.1 

    Range
    101..5053
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    32976112..32981064
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    34702793..34707745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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