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LOC125078048 Sharpr-MPRA regulatory region 9219 [ Homo sapiens (human) ]

Gene ID: 125078048, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125078048
Gene description
Sharpr-MPRA regulatory region 9219
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 11:FaireW, modest Faire/control enrichments, potential CNV). [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (26118782..26119076)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (23859182..23859476)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2346 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6266 Neighboring gene uncharacterized LOC105370739 Neighboring gene tRNA-Glu (anticodon TTC) 2-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:26371289-26371981 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:26375077-26375665 Neighboring gene long intergenic non-protein coding RNA 929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26421889-26422390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26422391-26422890 Neighboring gene NANOG hESC enhancer GRCh37_chr15:26476139-26476674 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:26481073-26481711 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:26485506-26486446 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:26488201-26488985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26505515-26506014 Neighboring gene uncharacterized LOC124903568 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:26570561-26571281 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:26606040-26606210 Neighboring gene uncharacterized LOC105370740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26655893-26656682 Neighboring gene long intergenic non-protein coding RNA 2248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26707088-26707588

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_080184.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    26118782..26119076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    23859182..23859476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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