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LOC121853002 NANOG-H3K4me1 hESC enhancer GRCh37_chr20:30251554-30252384 [ Homo sapiens (human) ]

Gene ID: 121853002, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121853002
Gene description
NANOG-H3K4me1 hESC enhancer GRCh37_chr20:30251554-30252384
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 NANOG transcription factor and is marked by the H3K4me1 histone modification. 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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121853002 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31663751..31664581)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33388010..33388840)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30251629..30251923)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11771 Neighboring gene CRISPRi-validated cis-regulatory element chr20.845 Neighboring gene CRISPRi-validated cis-regulatory element chr20.846 Neighboring gene microRNA 3193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30206543-30207044 Neighboring gene MPRA-validated peak4184 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30221506-30222006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30222007-30222507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12759 Neighboring gene cytochrome c oxidase subunit 4I2 Neighboring gene MPRA-validated peak4185 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30249151-30249878 Neighboring gene uncharacterized LOC124904883 Neighboring gene VISTA enhancer hs2050 Neighboring gene BCL2 like 1 Neighboring gene BCL2L1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30285857-30286804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17693 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30300575-30301102 Neighboring gene Sharpr-MPRA regulatory region 251

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 4727

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_076110.2 

    Range
    101..931
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    31663751..31664581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33388010..33388840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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