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LOC124849252 Sharpr-MPRA regulatory region 1292 [ Homo sapiens (human) ]

Gene ID: 124849252, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124849252
Gene description
Sharpr-MPRA regulatory region 1292
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 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Mar 2022]
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Genomic context

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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (118109164..118109458)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (118096410..118096704)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene WD repeat and SOCS box containing 2 Neighboring gene uncharacterized LOC124903030 Neighboring gene V-set and immunoglobulin domain containing 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:118523172-118523714 Neighboring gene uncharacterized LOC124903029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4922 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:118543551-118544266 Neighboring gene uncharacterized LOC101928274 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancers GRCh37_chr12:118557876-118558588 and GRCh37_chr12:118558589-118559300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:118560014-118560725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:118560726-118561438 Neighboring gene Sharpr-MPRA regulatory region 10186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:118564319-118564855 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:118573724-118574224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4923 Neighboring gene phosphatidylethanolamine binding protein 1

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_079830.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    118109164..118109458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    118096410..118096704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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