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LOC110120877 VISTA enhancer hs480 [ Homo sapiens (human) ]

Gene ID: 110120877, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110120877
Gene description
VISTA enhancer hs480
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 eye, forebrain, hindbrain, midbrain and neural tube of transgenic mice. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate 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: 20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31603913..31604751)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33328152..33328990)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30191716..30192554)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene HM13 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30160423-30160964 Neighboring gene uncharacterized LOC107985416 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30162848-30163017 Neighboring gene RNA, U6 small nuclear 384, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:30172998-30173500 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:30173501-30174004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30175011-30175512 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:30178306-30178806 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:30178807-30179307 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30180469-30181234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30182001-30182766 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:30182767-30183531 and GRCh37_chr20:30183532-30184297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30185063-30185828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30185829-30186593 Neighboring gene Sharpr-MPRA regulatory region 14532 Neighboring gene uncharacterized LOC105372588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30192859-30193529 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30193530-30194199 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30194246-30194824 Neighboring gene Sharpr-MPRA regulatory region 11771 Neighboring gene microRNA 3193 Neighboring gene inhibitor of DNA binding 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 17685

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_053500.1 

    Range
    101..939
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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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    31603913..31604751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33328152..33328990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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