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LOC112577508 OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162114645-162115359 [ Homo sapiens (human) ]

Gene ID: 112577508, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577508
Gene description
OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162114645-162115359
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as an enhancer 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 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162144855..162145569)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161488830..161489544)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162114749..162115043)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene activating transcription factor 6 Neighboring gene proteasome activator subunit 3 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161972665-161973166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1489 Neighboring gene Sharpr-MPRA regulatory region 11962 Neighboring gene olfactomedin like 2B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:162025767-162026281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1492 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:162061183-162061778 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:162061779-162062373 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_577 Neighboring gene uncharacterized LOC105371475 Neighboring gene nitric oxide synthase 1 adaptor protein Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:162106088-162107287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162121700-162122200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162150234-162150764 Neighboring gene microRNA 4654 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162167833-162168469 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:162219262-162219923 Neighboring gene uncharacterized LOC124904445

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 2282

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_060224.2 

    Range
    101..815
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    162144855..162145569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    161488830..161489544
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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