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LOC121466713 Sharpr-MPRA regulatory region 8786 [ Homo sapiens (human) ]

Gene ID: 121466713, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121466713
Gene description
Sharpr-MPRA regulatory region 8786
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 23:Low, low signal proximal to active elements) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, May 2021]
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Genomic context

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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108390752..108391046)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108360085..108360379)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (108784529..108784823)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DNA dC->dU-editing enzyme APOBEC-3G-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:108697351-108697872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:108699443-108699964 Neighboring gene chemerin chemokine-like receptor 1 Neighboring gene Sharpr-MPRA regulatory region 8395 Neighboring gene Sharpr-MPRA regulatory region 632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108732521-108733144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108739700-108740200 Neighboring gene MPRA-validated peak1933 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:108780158-108781357 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:108811567-108812766 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:108835174-108835930 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:108835931-108836688 Neighboring gene MPRA-validated peak1935 silencer Neighboring gene long intergenic non-protein coding RNA 1498 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:108906844-108907029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108910488-108910988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108910989-108911489 Neighboring gene FIC domain protein adenylyltransferase

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_074646.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    108390752..108391046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108360085..108360379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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