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LOC125467795 Sharpr-MPRA regulatory region 4209 [ Homo sapiens (human) ]

Gene ID: 125467795, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125467795
Gene description
Sharpr-MPRA regulatory region 4209
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. It was validated as a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 3:PromF, promoter flanking) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2022]
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Genomic context

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Location:
Xq
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155007074..155007368)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153243476..153243770)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coagulation factor VIII Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 Neighboring gene ZNF622 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30073 Neighboring gene int1h-1 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21121 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154255797-154256700 Neighboring gene FUN14 domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30074 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154299323-154300044 Neighboring gene mature T cell proliferation 1 Neighboring gene C-X9-C motif containing 4

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

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

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_081264.1 

    Range
    101..395
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    155007074..155007368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153243476..153243770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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