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LOC114827863 VISTA enhancer hs2548 [ Homo sapiens (human) ]

Gene ID: 114827863, updated on 10-Oct-2023

Summary

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Gene symbol
LOC114827863
Gene description
VISTA enhancer hs2548
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 transgenic mice embryos. A subregion marked by the H3K4me1 histone modification was also shown to be an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8672003..8676961)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8578120..8583072)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8575321..8580279)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain 10 Neighboring gene ribosomal protein S26 pseudogene 53 Neighboring gene peptidylprolyl isomerase A pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8532416-8533194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8533195-8533972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8533973-8534750 Neighboring gene Sharpr-MPRA regulatory region 9864 Neighboring gene uncharacterized LOC105371525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8599868-8600378 Neighboring gene Sharpr-MPRA regulatory region 493 Neighboring gene uncharacterized LOC105371526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8642150-8642650 Neighboring gene coiled-coil domain containing 42

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

  • H3K4me1 hESC enhancer GRCh37_chr17:8578673-8579223

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_065219.1 

    Range
    101..5059
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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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8672003..8676961
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8578120..8583072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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