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LOC125024493 Sharpr-MPRA regulatory region 14842 [ Homo sapiens (human) ]

Gene ID: 125024493, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125024493
Gene description
Sharpr-MPRA regulatory region 14842
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 HepG2 liver carcinoma cells (group: HepG2 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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See LOC125024493 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59220391..59220685)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53427299..53427593)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member B1 pseudogene 5 Neighboring gene uncharacterized LOC107984642 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5803 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59655908-59656667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8458 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34577 Neighboring gene peptidylprolyl isomerase A pseudogene 5 Neighboring gene dishevelled associated activator of morphogenesis 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8459 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59797736-59798544 Neighboring gene NANOG hESC enhancer GRCh37_chr14:59862330-59862839 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8460 Neighboring gene G protein-coupled receptor 135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8461 Neighboring gene uncharacterized LOC124903326 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein

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_080105.1 

    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
    59220391..59220685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    53427299..53427593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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