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LOC110121088 VISTA enhancer hs1388 [ Homo sapiens (human) ]

Gene ID: 110121088, updated on 17-Sep-2024

Summary

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Gene symbol
LOC110121088
Gene description
VISTA enhancer hs1388
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 brain, neural tube and other tissues of transgenic mice. A subregion was also validated as a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jul 2021]
Orthologs
mouse all
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Genomic context

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See LOC110121088 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (33363188..33365346)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (33224791..33226949)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33828789..33830947)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33807831-33808439 Neighboring gene polyhomeotic homolog 2 Neighboring gene microRNA 3605 Neighboring gene RN7SK pseudogene 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33814757-33815686 Neighboring gene NANOG hESC enhancer GRCh37_chr1:33821846-33822366 Neighboring gene PHC2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33832336-33833239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33920469-33920968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33933768-33934294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33934295-33934819 Neighboring gene Sharpr-MPRA regulatory region 11456 Neighboring gene toll like receptor 12, pseudogene Neighboring gene zinc finger and SCAN domain containing 20

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

  • Sharpr-MPRA regulatory region 7215

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_053708.1 

    Range
    101..2259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    33363188..33365346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    33224791..33226949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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