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LOC122056842 Sharpr-MPRA regulatory region 593 [ Homo sapiens (human) ]

Gene ID: 122056842, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122056842
Gene description
Sharpr-MPRA regulatory region 593
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 17:Gen3', transcription 3' end of genes, highly expressed, more exonic) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 17:Gen3'). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC122056842 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39001537..39001831)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38868752..38869046)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39467209..39467503)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene rhomboid like 2 Neighboring gene RNA, U6 small nuclear 605, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39419004-39419583 Neighboring gene eukaryotic translation initiation factor 1 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:39456070-39456842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39465981-39466886 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7850 Neighboring gene akirin 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39480053-39480552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39482837-39483545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39491963-39492549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39492550-39493135 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39493906-39494071 Neighboring gene uncharacterized LOC124904088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 800 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 Neighboring gene NANOG hESC enhancer GRCh37_chr1:39517634-39518135

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

See Variation Viewer (GRCh37.p13)

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_076298.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    39001537..39001831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    38868752..38869046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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