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LOC110120624 VISTA enhancer hs242 [ Homo sapiens (human) ]

Gene ID: 110120624, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110120624
Gene description
VISTA enhancer hs242
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 (173249643..173251205)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (173736227..173737789)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (174114371..174115933)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene pyruvate dehydrogenase kinase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173590766-173591266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173591267-173591767 Neighboring gene RAPGEF4 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:173607526-173608725 Neighboring gene Rap guanine nucleotide exchange factor 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:173668092-173668282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:173770903-173771408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:173771409-173771912 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12113 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56377 Neighboring gene mitogen-activated protein kinase kinase kinase 20 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56397 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:174056283-174056864 Neighboring gene MAP3K20 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16764 Neighboring gene NANOG hESC enhancer GRCh37_chr2:174129200-174129707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16765 Neighboring gene uncharacterized LOC105373743 Neighboring gene ribosomal protein S2 pseudogene 18

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_053251.1 

    Range
    101..1663
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    173249643..173251205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    173736227..173737789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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