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LOC112163682 Sharpr-MPRA regulatory region 10698 [ Homo sapiens (human) ]

Gene ID: 112163682, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112163682
Gene description
Sharpr-MPRA regulatory region 10698
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 DNase matched - State 6:EnhF, candidate strong enhancer, flanking open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Mar 2018]
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Genomic context

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See LOC112163682 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100771192..100771486)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (95006098..95006392)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (101237529..101237823)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370669 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101180141-101180652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101180653-101181164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101182743-101183676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101183677-101184608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101200205-101200972 Neighboring gene delta like non-canonical Notch ligand 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:101221473-101222672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101251634-101252164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101272538-101273453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:101275541-101276109 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:101281498-101281998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101290055-101290755 Neighboring gene microRNA 2392 Neighboring gene NANOG hESC enhancer GRCh37_chr14:101296990-101297491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101305655-101306416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101306417-101307176 Neighboring gene maternally expressed 3 Neighboring gene microRNA 770

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_056657.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    100771192..100771486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    95006098..95006392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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