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LOC110120956 VISTA enhancer hs993 [ Homo sapiens (human) ]

Gene ID: 110120956, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110120956
Gene description
VISTA enhancer hs993
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: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (17158850..17160825)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (17036239..17038214)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (17311784..17313759)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 837, pseudogene Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17286714 Neighboring gene ribosomal protein L7 pseudogene 40 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17310310 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17311674 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17327941 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:17485772-17486971 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26385 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:17535474-17536673 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 8 Neighboring gene translocase of inner mitochondrial membrane 17B pseudogene 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

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_053577.1 

    Range
    101..2076
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    17158850..17160825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    17036239..17038214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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