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LOC123881346 OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157733661-157734653 [ Homo sapiens (human) ]

Gene ID: 123881346, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123881346
Gene description
OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157733661-157734653
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 and primed human embryonic stem cells, where it associates with the OCT4 transcription factor and 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 both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 25:Art, potential CNV or repetitive artifacts) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 25:Art). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC123881346 in Genome Data Viewer
Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (157312629..157313621)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (157733828..157734123)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901551 Neighboring gene transmembrane protein 242 Neighboring gene lactate dehydrogenase A like 6F, pseudogene Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157731297-157731836 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157731837-157732374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157734654-157735645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25330 Neighboring gene TMEM242 divergent transcript Neighboring gene uncharacterized LOC105378076

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 9813

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_078251.2 

    Range
    101..1093
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    157312629..157313621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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