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LOC112577594 OCT4-NANOG hESC enhancer GRCh37_chr1:38955288-38956062 [ Homo sapiens (human) ]

Gene ID: 112577594, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577594
Gene description
OCT4-NANOG hESC enhancer GRCh37_chr1:38955288-38956062
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. 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 non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (38489616..38490390)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38356838..38357612)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38955509..38955803)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378657 Neighboring gene uncharacterized LOC107984943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38918219-38918720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38949916-38950676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38950677-38951437 Neighboring gene long intergenic non-protein coding RNA 1685 Neighboring gene Sharpr-MPRA regulatory region 1530 Neighboring gene uncharacterized LOC105378658 Neighboring gene CRISPRi-validated cis-regulatory element chr1.5052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38995999-38996641 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:39021300-39022499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39025118-39025733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39034058-39034665 Neighboring gene MPRA-validated peak186 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39065535-39066150 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39066151-39066766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39073721-39074510 Neighboring gene uncharacterized LOC105378660 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39165731-39165950 Neighboring gene HSPA5 pseudogene 1

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 9528

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_060526.2 

    Range
    101..875
    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
    38489616..38490390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    38356838..38357612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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