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LOC112694724 Sharpr-MPRA regulatory region 4326 [ Homo sapiens (human) ]

Gene ID: 112694724, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694724
Gene description
Sharpr-MPRA regulatory region 4326
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 unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (58623913..58624207)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60405947..60406241)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57198969..57199263)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13073 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56988153-56988944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56988945-56989734 Neighboring gene VAMP associated protein B and C Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:57002581-57003275 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:57021533-57022034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18174 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:57035877-57036065 Neighboring gene APC down-regulated 1 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57089058-57090056 Neighboring gene APCDD1L divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:57116639-57117838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57121117-57121618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57134321-57134821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57169387-57170169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57185055-57185556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57193651-57194322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57194995-57195666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57195667-57196336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57212955-57213590 Neighboring gene uncharacterized LOC107985410 Neighboring gene Sharpr-MPRA regulatory region 5631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57223531-57224068 Neighboring gene long intergenic non-protein coding RNA 1711

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_060753.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    58623913..58624207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    60405947..60406241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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