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LOC112163549 Sharpr-MPRA regulatory region 6359 [ Homo sapiens (human) ]

Gene ID: 112163549, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112163549
Gene description
Sharpr-MPRA regulatory region 6359
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 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 9:DNaseU, primarily Duke DNase, weaker open chromatin sites). [provided by RefSeq, Mar 2018]
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Genomic context

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Location:
12p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (24226995..24227289)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (24097964..24098258)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (24379929..24380223)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369697 Neighboring gene Sharpr-MPRA regulatory region 8728 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23793632-23794207 Neighboring gene SRY-box transcription factor 5 Neighboring gene NANOG hESC enhancer GRCh37_chr12:23909365-23909887 Neighboring gene MPRA-validated peak1610 silencer Neighboring gene MPRA-validated peak1611 silencer Neighboring gene MPRA-validated peak1613 silencer Neighboring gene Sharpr-MPRA regulatory region 3652 Neighboring gene Sharpr-MPRA regulatory region 12792 Neighboring gene VISTA enhancer hs895 Neighboring gene MPRA-validated peak1614 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:24369389-24370015 Neighboring gene SOX5 antisense RNA 1 Neighboring gene microRNA 920 Neighboring gene NANOG hESC enhancer GRCh37_chr12:24744672-24745173 Neighboring gene uncharacterized LOC105369698 Neighboring gene long intergenic non-protein coding RNA 477 Neighboring gene lysine rich nucleolar protein 1 pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 102

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_056573.1 

    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
    24226995..24227289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    24097964..24098258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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