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LOC124958012 Sharpr-MPRA regulatory region 8150 [ Homo sapiens (human) ]

Gene ID: 124958012, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124958012
Gene description
Sharpr-MPRA regulatory region 8150
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 25:Art, potential CNV or repetitive artifacts) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21092930..21093224)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15290340..15290634)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NDRG family member 2 Neighboring gene ribonuclease A family member 8 Neighboring gene Rho guanine nucleotide exchange factor 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21539187-21539808 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21550650-21551849 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21552808-21554007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21554944-21555488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21555489-21556031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21558438-21559283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21559284-21560128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5581 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21565235-21565736 Neighboring gene zinc finger protein 219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21566496-21566996 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21571456-21572200 Neighboring gene transmembrane protein 253 Neighboring gene cytoskeleton associated protein 2 pseudogene 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_080057.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    21092930..21093224
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    15290340..15290634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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