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LOC112533670 Sharpr-MPRA regulatory region 2319 [ Homo sapiens (human) ]

Gene ID: 112533670, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533670
Gene description
Sharpr-MPRA regulatory region 2319
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). It also displayed weak activation by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh). [provided by RefSeq, May 2018]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75453108..75453402)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76346536..76346828)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73449189..73449483)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6144 Neighboring gene RNA, U6 small nuclear 938, pseudogene Neighboring gene microRNA 3678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8967 Neighboring gene transmembrane protein 94 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73464760-73464928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8968 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73476676-73476860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12766 Neighboring gene microRNA 6785 Neighboring gene CASK interacting protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73510728-73511294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8969

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_057343.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    75453108..75453402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    76346536..76346828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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