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LOC124819393 Sharpr-MPRA regulatory region 632 [ Homo sapiens (human) ]

Gene ID: 124819393, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124819393
Gene description
Sharpr-MPRA regulatory region 632
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 primed human embryonic stem cells, where it associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. 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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC124819393 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108316532..108317060)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108284749..108285277)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903078 Neighboring gene DNA dC->dU-editing enzyme APOBEC-3G-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:108697351-108697872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:108699443-108699964 Neighboring gene chemerin chemokine-like receptor 1 Neighboring gene Sharpr-MPRA regulatory region 8395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108732521-108733144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108739700-108740200 Neighboring gene MPRA-validated peak1933 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:108780158-108781357 Neighboring gene Sharpr-MPRA regulatory region 8786 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:108811567-108812766 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:108835174-108835930 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:108835931-108836688 Neighboring gene MPRA-validated peak1935 silencer Neighboring gene long intergenic non-protein coding RNA 1498 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:108906844-108907029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108910488-108910988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108910989-108911489 Neighboring gene FIC domain protein adenylyltransferase

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-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:108710319-108710837

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_079810.2 

    Range
    101..629
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    108316532..108317060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108284749..108285277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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