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LOC112543470 Sharpr-MPRA regulatory region 11645 [ Homo sapiens (human) ]

Gene ID: 112543470, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112543470
Gene description
Sharpr-MPRA regulatory region 11645
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 Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin), with weaker activation in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC112543470 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18596719..18597013)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18731785..18732079)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18707529..18707823)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene KxDL motif containing 1 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18682001-18682677 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18683356-18684032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18702459-18702982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18703866-18704367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10411 Neighboring gene required for excision 1-B domain containing Neighboring gene cytokine receptor like factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18716731-18717649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18724873-18725393 Neighboring gene transmembrane protein 59 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14329 Neighboring gene RNA, 7SL, cytoplasmic 155, 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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 14328

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_057411.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    18596719..18597013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18731785..18732079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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