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LOC125338468 Sharpr-MPRA regulatory region 485 [ Homo sapiens (human) ]

Gene ID: 125338468, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125338468
Gene description
Sharpr-MPRA regulatory region 485
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 NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. 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 both HepG2 liver carcinoma cells (group: HepG2 Repressive DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites) and K562 erythroleukemia cells (group: K562 Repressive 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:
18p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3526163..3526965)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3685685..3686487)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9254 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3448381-3449002 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3449003-3449622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3451487-3452108 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3452109-3452730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3452731-3453350 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:3455215-3455834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3457616-3458176 Neighboring gene uncharacterized LOC105371965 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:3466751-3467438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:3469136-3469926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13048 Neighboring gene TGFB induced factor homeobox 1 Neighboring gene gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:3554877-3555427 Neighboring gene small nucleolar RNA U13 Neighboring gene DLG associated protein 1 Neighboring gene RNA, 7SL, cytoplasmic 39, pseudogene

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

  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3526161-3526905

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_080652.2 

    Range
    101..903
    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
    3526163..3526965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    3685685..3686487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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