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LOC122056851 OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43474030-43474738 [ Homo sapiens (human) ]

Gene ID: 122056851, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122056851
Gene description
OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43474030-43474738
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 and NANOG transcription factors 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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC122056851 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43008359..43009067)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42878829..42879537)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43474030..43474738)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:43424712-43424895 Neighboring gene Sharpr-MPRA regulatory region 619 Neighboring gene SLC2A1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43436637-43437138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43437139-43437638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43438752-43439252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43439253-43439753 Neighboring gene RNA, U6 small nuclear 880, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43473322-43474029 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:43474739-43475446 Neighboring gene uncharacterized LOC124904715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43501886-43502436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43523803-43524338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43535165-43536132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 775 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:43556627-43557317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43567490-43567994 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43585242-43585883 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43585884-43586524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43587073-43587594 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43618601-43619564 Neighboring gene cilia and flagella associated protein 144

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 10275

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_076307.2 

    Range
    101..809
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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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    43008359..43009067
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    42878829..42879537
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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