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LOC110121378 VISTA enhancer hs1488 [ Homo sapiens (human) ]

Gene ID: 110121378, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121378
Gene description
VISTA enhancer hs1488
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. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic eye, hindbrain, limb and midbrain of transgenic mice. Three subregions marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. [provided by RefSeq, Nov 2022]
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Genomic context

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See LOC110121378 in Genome Data Viewer
Location:
chromosome: 11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1963276..1966142)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2050930..2053796)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1985072..1987372)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene troponin T3, fast skeletal type Neighboring gene ReSE screen-validated silencer GRCh37_chr11:1956346-1956534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1956988-1957585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1970491-1971228 Neighboring gene small nucleolar RNA, C/D box 131 Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1979269-1980047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2003101-2003870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2004639-2005408 Neighboring gene MRPL23 antisense RNA 1 Neighboring gene H19/IGF2 enhancer region Neighboring gene long intergenic non-protein coding RNA 1219

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1984506-1985246
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1985247-1985986
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1985987-1986726

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_053992.2 

    Range
    101..2967
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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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    1963276..1966142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160004.1 Reference GRCh38.p14 PATCHES

    Range
    155798..158664
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    2050930..2053796
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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