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LOC123497973 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134825332-134826188 [ Homo sapiens (human) ]

Gene ID: 123497973, updated on 12-Sep-2024

Summary

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Gene symbol
LOC123497973
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134825332-134826188
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 non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC123497973 in Genome Data Viewer
Location:
5q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (135489642..135490498)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (136016809..136017665)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134825332..134826188)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134784907-134785408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134785409-134785908 Neighboring gene uncharacterized LOC124901073 Neighboring gene dendritic cell associated nuclear protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23174 Neighboring gene TIFA inhibitor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23175 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:134820245-134821093 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134824474-134825331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134826189-134827045 Neighboring gene MPRA-validated peak5480 silencer Neighboring gene Sharpr-MPRA regulatory region 242 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134871641-134872156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134877514-134878015 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134878708-134879599 Neighboring gene neurogenin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134879600-134880490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134880491-134881382 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:134900858-134901378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134904009-134904938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134905671-134906171 Neighboring gene C-X-C motif chemokine ligand 14

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 2127

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_077824.2 

    Range
    101..957
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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
    135489642..135490498
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    136016809..136017665
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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