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LOC123230409 NANOG hESC enhancer GRCh37_chr3:167993395-167993896 [ Homo sapiens (human) ]

Gene ID: 123230409, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123230409
Gene description
NANOG hESC enhancer GRCh37_chr3:167993395-167993896
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 primed human embryonic stem cells, where it associates with the NANOG transcription factor. 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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (168275607..168276108)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (171059502..171060003)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (167993509..167993803)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 26 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:167729036-167729547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20773 Neighboring gene golgi integral membrane protein 4 Neighboring gene NANOG hESC enhancer GRCh37_chr3:167799674-167800287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:167813739-167814240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20774 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4789 Neighboring gene Sharpr-MPRA regulatory region 6960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20777 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:167990063-167990598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20779 Neighboring gene EGF like and EMI domain containing 1, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:168102881-168103380 Neighboring gene MPRA-validated peak4911 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:168231986-168232502 Neighboring gene RNA, U2 small nuclear 20, pseudogene Neighboring gene microRNA 551b

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 1003

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_077351.2 

    Range
    101..602
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    168275607..168276108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    171059502..171060003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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