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LOC112081415 Sharpr-MPRA regulatory region 1260 [ Homo sapiens (human) ]

Gene ID: 112081415, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112081415
Gene description
Sharpr-MPRA regulatory region 1260
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 HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 23:Low, low signal proximal to active elements), with weaker activation in K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations). [provided by RefSeq, Feb 2018]
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Genomic context

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Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68692201..68692495)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68698321..68698615)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68459669..68459963)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 6 regulatory subunit 3 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68278329-68278907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68278908-68279485 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:68307752-68308457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68310718-68311218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68311219-68311719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68351250-68351750 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:68370649-68370853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68376961-68377462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68377463-68377962 Neighboring gene NANOG hESC enhancer GRCh37_chr11:68390073-68390603 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:68399697-68400286 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:68400287-68400875 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:68400876-68401464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68419596-68420268 Neighboring gene uncharacterized LOC107984343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68450731-68451406 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68452083-68452758 Neighboring gene NANOG hESC enhancer GRCh37_chr11:68462220-68462721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68474187-68474945 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68479758-68480258 Neighboring gene galanin and GMAP prepropeptide Neighboring gene testis expressed metallothionein like protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68518115-68519100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3678 Neighboring gene uncharacterized LOC124902699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68531008-68531810 Neighboring gene carnitine palmitoyltransferase 1A

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_056476.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    68692201..68692495
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    68698321..68698615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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