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LOC125371429 Sharpr-MPRA regulatory region 539 [ Homo sapiens (human) ]

Gene ID: 125371429, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371429
Gene description
Sharpr-MPRA regulatory region 539
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. The major subregion 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 OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. Another subregion was 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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
18q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (58087897..58088766)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (58287776..58288645)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1897 Neighboring gene Sharpr-MPRA regulatory region 3246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13381 Neighboring gene CRISPRi-validated cis-regulatory element chr18.1280 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 30 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9483 Neighboring gene NANOG hESC enhancer GRCh37_chr18:55747705-55748297 Neighboring gene NEDD4 like E3 ubiquitin protein ligase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55793171-55793670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55838061-55838872 Neighboring gene uncharacterized LOC105372143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55862243-55862765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55862766-55863287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55890569-55891162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55914788-55915293 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:55977766-55977988 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55982687-55983886 Neighboring gene Sharpr-MPRA regulatory region 8690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56045193-56045729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56045730-56046265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:56059391-56059890 Neighboring gene MIR122 host gene Neighboring gene microRNA 3591 Neighboring gene microRNA 122

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

General gene information

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Other Names

  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:55755323-55755998

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_080699.2 

    Range
    101..970
    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    58087897..58088766
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    58287776..58288645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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