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LOC110121498 VISTA enhancer hs2231 [ Homo sapiens (human) ]

Gene ID: 110121498, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121498
Gene description
VISTA enhancer hs2231
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. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic forebrain, hindbrain, midbrain and neural tube of transgenic mice. A subregion was also shown to be an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
chromosome: 15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (31303587..31308005)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (29097705..29102114)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31595790..31600208)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903454 Neighboring gene long intergenic non-protein coding RNA 2352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31517937-31518509 Neighboring gene long intergenic non-protein coding RNA 3034 Neighboring gene Sharpr-MPRA regulatory region 5138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31548124-31548696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31570698-31571198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31571199-31571699 Neighboring gene KLF13-II enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31594474-31595156 Neighboring gene KLF13-III enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31604403-31605163 Neighboring gene KLF13 promoter region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31621870-31622434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31627858-31628358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31628359-31628859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31634092-31634903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31634904-31635714 Neighboring gene KLF transcription factor 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31649687-31650186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31666033-31667020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6267 Neighboring gene uncharacterized LOC105370939 Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 4

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

  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31598976-31599561

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_054111.1 

    Range
    101..4519
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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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    31303587..31308005
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    3476961..3481379
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3589413..3593831
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    29097705..29102114
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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