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LOC125146351 Sharpr-MPRA regulatory region 3473 [ Homo sapiens (human) ]

Gene ID: 125146351, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125146351
Gene description
Sharpr-MPRA regulatory region 3473
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 DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Apr 2022]
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Genomic context

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See LOC125146351 in Genome Data Viewer
Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89673118..89673412)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87429000..87429294)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90119099-90119627 Neighboring gene TOPBP1 interacting checkpoint and replication regulator Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:90171995-90173194 Neighboring gene kinesin family member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6801 Neighboring gene Sharpr-MPRA regulatory region 5394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6802 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90215543-90215807 Neighboring gene perilipin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10054 Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene peroxisomal biogenesis factor 11 alpha Neighboring gene WD repeat domain 93 Neighboring gene RNA, U6 small nuclear 132, 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

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_080282.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    89673118..89673412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    87429000..87429294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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