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LOC123575629 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175579338-175580322 [ Homo sapiens (human) ]

Gene ID: 123575629, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123575629
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175579338-175580322
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 genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (176152335..176153319)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176695909..176696893)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175579529..175579823)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:175491282-175491899 Neighboring gene PLCR-B recombination region Neighboring gene protein FAM153B Neighboring gene uncharacterized LOC107986487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175559705-175560206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175560207-175560706 Neighboring gene Sharpr-MPRA regulatory region 12759 Neighboring gene selenophosphate synthetase 1 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175580323-175581305 Neighboring gene CEP192 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:175588089-175588329 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:175610533-175611123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175621561-175622251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175624383-175624884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16648 Neighboring gene SUMO interacting motifs containing 1 Neighboring gene BRCA1/BRCA2-containing complex subunit 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23680 Neighboring gene KIAA1191

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-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

  • Sharpr-MPRA regulatory region 4969

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_077888.2 

    Range
    101..1085
    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
    176152335..176153319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    176695909..176696893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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