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LOC121725062 Sharpr-MPRA regulatory region 14373 [ Homo sapiens (human) ]

Gene ID: 121725062, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725062
Gene description
Sharpr-MPRA regulatory region 14373
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 enhancer 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 Activating DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162854279..162854573)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (162198844..162199138)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162824069..162824363)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1495 Neighboring gene MPRA-validated peak435 silencer Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene hydroxysteroid 17-beta dehydrogenase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162792375-162792980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2012 Neighboring gene coiled-coil domain containing 190 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:162947871-162948547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162948548-162949223 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like Neighboring gene NANOG hESC enhancer GRCh37_chr1:162971378-162971879 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:163005147-163006346 Neighboring gene uncharacterized LOC107985223

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

See Variation Viewer (GRCh37.p13)

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_075531.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    162854279..162854573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    162198844..162199138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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