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LOC125387322 Sharpr-MPRA regulatory region 1956 [ Homo sapiens (human) ]

Gene ID: 125387322, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125387322
Gene description
Sharpr-MPRA regulatory region 1956
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 non-DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, May 2022]
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Genomic context

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Location:
21p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (10447134..10447428)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11164508-11164790 Neighboring gene eukaryotic translation initiation factor 3 subunit F pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11149351-11149545 Neighboring gene Sharpr-MPRA regulatory region 1951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:11143879-11144379 Neighboring gene vomeronasal 1 receptor 7 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11110990-11111153 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11095452-11095553 Neighboring gene BAGE family member 2 (pseudogene) Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:11058865-11059648 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11040874-11041867 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11038995-11039496 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11010869-11011015 Neighboring gene transmembrane phosphatase with tensin homology Neighboring gene uncharacterized LOC124905063 Neighboring gene CYCS pseudogene 41

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_081059.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    10447134..10447428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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