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LOC125467770 Sharpr-MPRA regulatory region 6089 [ Homo sapiens (human) ]

Gene ID: 125467770, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125467770
Gene description
Sharpr-MPRA regulatory region 6089
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. 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 both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 4:PromP). This locus also includes two accessible chromatin subregions, one of which was validated as an enhancer and the other as a silencer based on their ability to activate or 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:
Xq
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107775799..107776126)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (106212538..106212866)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene FERM and PDZ domain containing 3 Neighboring gene FRMPD3 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106804525-106805322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106806121-106806916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106806917-106807714 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:106842109-106842610 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:106842611-106843110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106843233-106843778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106843779-106844324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20928 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:106876457-106876559 Neighboring gene Sharpr-MPRA regulatory region 15331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29833 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20931 Neighboring gene NANOG hESC enhancer GRCh37_chrX:106943730-106944231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106968611-106969112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106975096-106975705 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:106980023-106980600 Neighboring gene TSC22 domain family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106992672-106993524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106993525-106994376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107017786-107018363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107018364-107018940 Neighboring gene nuclear cap binding protein subunit 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20934 Neighboring gene Sharpr-MPRA regulatory region 15158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107120928-107121436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107121437-107121945 Neighboring gene midline 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29837 Neighboring gene uncharacterized LOC101928335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107162128-107162628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107162629-107163129

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 active region 29836
  • ATAC-STARR-seq lymphoblastoid silent region 20932

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_081240.2 

    Range
    101..428
    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
    107775799..107776126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    106212538..106212866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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