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LOC112694705 Sharpr-MPRA regulatory region 4652 [ Homo sapiens (human) ]

Gene ID: 112694705, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694705
Gene description
Sharpr-MPRA regulatory region 4652
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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin), with weak activation in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer; flanking open chromatin of candidate enhancers). [provided by RefSeq, Jul 2018]
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Genomic context

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See LOC112694705 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33779063..33779357)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35505421..35505715)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32366869..32367163)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32321171-32321874 Neighboring gene zinc finger protein 341 Neighboring gene ribosomal protein L31 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32349191-32349692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12823 Neighboring gene ZNF341 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 14745 Neighboring gene Sharpr-MPRA regulatory region 12013 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32399709-32400549 Neighboring gene charged multivesicular body protein 4B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32441073-32441573

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_060735.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    33779063..33779357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    35505421..35505715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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