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LOC127404331 H3K27ac hESC enhancer GRCh37_chr5:150460705-150461415 [ Homo sapiens (human) ]

Gene ID: 127404331, updated on 12-Sep-2024

Summary

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Gene symbol
LOC127404331
Gene description
H3K27ac hESC enhancer GRCh37_chr5:150460705-150461415
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was predicted to be an enhancer based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. A subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K27ac histone modification. Two subregions were also validated as negatively-acting cis-regulatory elements for the IL6ST (interleukin 6 cytokine family signal transducer) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in either Jurkat T cells or GM12878 lymphoblastoid cells. This region is relevant for coronavirus biology because the IL6ST target gene is involved in immune response or antiviral activity. This locus also includes two accessible chromatin subregions, one of which was validated as an enhancer and the other 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 cells. [provided by RefSeq, May 2023]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene regulation.
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Genomic context

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See LOC127404331 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151080546..151081854)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151617032..151618340)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150460107..150461415)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378228 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:150376236-150376402 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:150401597-150402796 Neighboring gene glutathione peroxidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23429 Neighboring gene TNFAIP3 interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150435866-150436392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150445954-150446696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150446697-150447439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23435 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:150473600-150474799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23438 Neighboring gene annexin A6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150503406-150503906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23443 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150537501-150538357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23444 Neighboring gene uncharacterized LOC107986463 Neighboring gene platelet derived growth factor receptor like 2, pseudogene

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. Genome-wide enhancer maps link risk variants to disease genes. Nasser J, et al. Nature, 2021 May. PMID 33828297, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. 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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 23431
  • ATAC-STARR-seq lymphoblastoid silent region 16519
  • CRISPRi-FlowFISH-validated IL6ST regulatory element GRCh37_chr5:150460107-150460895
  • CRISPRi-FlowFISH-validated IL6ST regulatory element GRCh37_chr5:150460395-150461164

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_106280.2 

    Range
    101..1409
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    151080546..151081854
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    151617032..151618340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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