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LOC110120701 VISTA enhancer hs553 [ Homo sapiens (human) ]

Gene ID: 110120701, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110120701
Gene description
VISTA enhancer hs553
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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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (172071791..172073521)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (172558035..172559765)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172936519..172938249)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene histone acetyltransferase 1 Neighboring gene PDGFA associated protein 1 pseudogene Neighboring gene uncharacterized LOC124905590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12106 Neighboring gene methionyl aminopeptidase type 1D, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172945060-172945588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172945589-172946118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172948655-172949268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172949269-172949880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172949881-172950494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172950495-172951106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172951721-172952332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172952946-172953557 Neighboring gene VISTA enhancer hs422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12109 Neighboring gene distal-less homeobox 1 Neighboring gene distal-less homeobox 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

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_053327.1 

    Range
    101..1831
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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
    172071791..172073521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791761.1 Reference GRCh38.p14 PATCHES

    Range
    510558..512288
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    172558035..172559765
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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