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LOC110121211 VISTA enhancer hs1828 [ Homo sapiens (human) ]

Gene ID: 110121211, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121211
Gene description
VISTA enhancer hs1828
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This locus includes 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 hindbrain and neural tube of transgenic mice. Three subregions were also shown to be active enhancers by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where all are marked by the H3K27ac histone modification and two are additionally marked by H3K4me1. This locus also includes three accessible chromatin subregions, two of which were validated as enhancers and one as a silencer based on their ability to activate or repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (172770682..172774006)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (173310797..173314123)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172198673..172201009)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene neuralized E3 ubiquitin protein ligase 1B Neighboring gene uncharacterized LOC107986479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172139792-172140399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172141615-172142220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172153656-172154156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172170835-172171336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172171337-172171836 Neighboring gene heart enhancer 25 Neighboring gene uncharacterized LOC101928093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23642 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172194940-172195132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16625 Neighboring gene uncharacterized LOC105377730 Neighboring gene cyclin Q pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172214701-172215202 Neighboring gene dual specificity phosphatase 1 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172232818-172233634 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:172233916-172235115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172246893-172247394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172250515-172251016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172251017-172251516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172262000-172262992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172262993-172263984 Neighboring gene uncharacterized LOC124901135 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172276540-172277739 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:172281789-172282290 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172285332-172285509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172286171-172287171 Neighboring gene endoplasmic reticulum-golgi intermediate compartment 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172290019-172290520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172304495-172305470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172305471-172306446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172328739-172329249 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172331587-172332786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172341803-172342303 Neighboring gene microRNA 10523

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. 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

  • ATAC-STARR-seq lymphoblastoid active region 23643
  • ATAC-STARR-seq lymphoblastoid active region 23644
  • ATAC-STARR-seq lymphoblastoid silent region 16626
  • H3K27ac hESC enhancer GRCh37_chr5:172197685-172198446
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172198447-172199208
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172199209-172199968

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_053827.3 

    Range
    101..3425
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    172770682..172774006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    173310797..173314123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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