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LOC124849278 Sharpr-MPRA regulatory region 2215 [ Homo sapiens (human) ]

Gene ID: 124849278, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124849278
Gene description
Sharpr-MPRA regulatory region 2215
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. A subregion was validated as a functional 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 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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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 (124774063..124774427)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (124779340..124779704)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125106212-125107104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125107105-125107998 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:125117605-125118804 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:125120143-125120783 Neighboring gene Sharpr-MPRA regulatory region 4504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125130641-125131250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125136287-125136800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125136801-125137314 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125158286-125158903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125160065-125160662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125161261-125161858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125169354-125169898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125169899-125170441 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125172481-125173202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125179365-125179866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125197387-125198032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125198033-125198677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125215664-125216268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125216269-125216872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125218412-125219186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125219187-125219961 Neighboring gene uncharacterized LOC124903045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125234102-125234622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125234623-125235143 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125239799-125240701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125243147-125243646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125242645-125243146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125245231-125245731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7303 Neighboring gene MPRA-validated peak2030 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125268792-125269560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125270855-125271355 Neighboring gene uncharacterized LOC124903046 Neighboring gene MPRA-validated peak2031 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125282561-125283071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125282050-125282560 Neighboring gene scavenger receptor class B member 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125301275-125301774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125309151-125309872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125309873-125310594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125323854-125324380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125324381-125324905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125346238-125346764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5067 Neighboring gene uncharacterized LOC105370050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7306 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25236 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:125351043-125352242

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid active region 7301

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_079853.2 

    Range
    101..465
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    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
    124774063..124774427
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    124779340..124779704
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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