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LOC112529898 Sharpr-MPRA regulatory region 4579 [ Homo sapiens (human) ]

Gene ID: 112529898, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112529898
Gene description
Sharpr-MPRA regulatory region 4579
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, May 2018]
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Genomic context

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See LOC112529898 in Genome Data Viewer
Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17352275..17352569)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17297342..17297636)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17255589..17255883)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17154504-17154606 Neighboring gene COP9 signalosome subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17204068-17204643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8242 Neighboring gene 5',3'-nucleotidase, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17229781-17230281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17254745-17255324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17258250-17258750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17258751-17259251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17291286-17291786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11799 Neighboring gene ribosomal protein L13 pseudogene 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17306668-17307222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17307223-17307775 Neighboring gene Sharpr-MPRA regulatory region 14253 Neighboring gene NFE2L2 motif-containing MPRA enhancer 126 Neighboring gene ligand of numb-protein X 1, E3 ubiquitin protein ligase pseudogene

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_056888.1 

    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
    17352275..17352569
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    17297342..17297636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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