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LOC125446225 Sharpr-MPRA regulatory region 1139 [ Homo sapiens (human) ]

Gene ID: 125446225, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125446225
Gene description
Sharpr-MPRA regulatory region 1139
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the NANOG transcription factor. Another subregion was validated as a 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 DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 12:CtcfO). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC125446225 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (35154634..35155170)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (35613442..35613978)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2885 Neighboring gene uncharacterized LOC105373015 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35345833-35346334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35346335-35346834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35419897-35420488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18889 Neighboring gene uncharacterized LOC124905110 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:35472054-35473253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18893 Neighboring gene intestine specific homeobox Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:35531129-35531665 Neighboring gene long intergenic non-protein coding RNA 1399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18895 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35554225-35555056 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:35567219-35568418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35573611-35574112 Neighboring gene COX7B pseudogene 1 Neighboring gene uncharacterized LOC105373017 Neighboring gene RNA, U7 small nuclear 167 pseudogene Neighboring gene HMG-box containing 4

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • NANOG hESC enhancer GRCh37_chr22:35550627-35551150

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_081164.2 

    Range
    101..637
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    35154634..35155170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    35613442..35613978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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