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LOC121725165 Sharpr-MPRA regulatory region 2239 [ Homo sapiens (human) ]

Gene ID: 121725165, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725165
Gene description
Sharpr-MPRA regulatory region 2239
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. 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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121725165 in Genome Data Viewer
Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (182244601..182244895)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (185049288..185049582)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (181962389..181962683)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374242 Neighboring gene NANOG hESC enhancer GRCh37_chr3:181839149-181839650 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:181857572-181858371 Neighboring gene uncharacterized LOC105374243 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:181930066-181931265 Neighboring gene VISTA enhancer hs1332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:182033397-182033897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:182044533-182045074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:182045075-182045615 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:182144163-182144749 Neighboring gene MPRA-validated peak4954 silencer Neighboring gene long intergenic non-protein coding RNA 1994 Neighboring gene Sharpr-MPRA regulatory region 13029 Neighboring gene eukaryotic translation initiation factor 4E pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:182217852-182218669 Neighboring gene long intergenic non-protein coding RNA 1995

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_075635.1 

    Range
    101..395
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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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    182244601..182244895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    185049288..185049582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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