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LOC125371417 Sharpr-MPRA regulatory region 2051 [ Homo sapiens (human) ]

Gene ID: 125371417, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371417
Gene description
Sharpr-MPRA regulatory region 2051
Gene type
biological region
Feature type(s)
regulatory: 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. A subregion was validated as a functional 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 1:Tss, active promoter, TSS/CpG island region). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 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 (49813326..49813633)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50015100..50015407)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47088634-47089134 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:47135425-47136624 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47138971-47139847 Neighboring gene uncharacterized LOC105372112 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47139848-47140723 Neighboring gene lipase G, endothelial type Neighboring gene MPRA-validated peak3145 silencer Neighboring gene uncharacterized LOC112268210 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:47185307-47185916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47189661-47190508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47190509-47191354 Neighboring gene single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47249700-47250899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47252155-47252900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47252901-47253644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47283654-47284603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47285800-47286402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9451 Neighboring gene acetyl-CoA acyltransferase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47371819-47372320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47373043-47373544 Neighboring gene small Cajal body-specific RNA 17 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:47375491-47376690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382468-47382968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382969-47383469 Neighboring gene small nucleolar RNA host gene 22 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47405587-47406786 Neighboring gene myosin VB Neighboring gene Sharpr-MPRA regulatory region 7262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47430620-47431120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47431121-47431621 Neighboring gene RNA, 5S ribosomal pseudogene 457

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid silent region 9450

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_080687.2 

    Range
    101..408
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    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
    49813326..49813633
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    50015100..50015407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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