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LOC125138294 Sharpr-MPRA regulatory region 5581 [ Homo sapiens (human) ]

Gene ID: 125138294, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125138294
Gene description
Sharpr-MPRA regulatory region 5581
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 K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (79007127..79007421)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76870784..76871078)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9927 Neighboring gene Sharpr-MPRA regulatory region 2017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79237120-79237658 Neighboring gene cathepsin H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9930 Neighboring gene uncharacterized LOC100129540 Neighboring gene Ras protein specific guanine nucleotide releasing factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79288791-79289564 Neighboring gene uncharacterized LOC105370917 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:79296069-79297268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79298197-79299032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79327280-79327780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79339175-79339674 Neighboring gene uncharacterized LOC107984750 Neighboring gene ANKRD34C antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:79489533-79490066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79497097-79497660 Neighboring gene microRNA 184

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_080266.1 

    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
    79007127..79007421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    76870784..76871078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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