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LOC112543475 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2494323-2495030 [ Homo sapiens (human) ]

Gene ID: 112543475, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112543475
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2494323-2495030
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as an enhancer by Sharpr-MPRA (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 4:PromP). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2494325..2495154)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2470534..2471363)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2494689..2494983)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9793 Neighboring gene long intergenic non-protein coding RNA 1775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2476197-2476784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2476785-2477374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2479439-2479940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2479941-2480440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2490859-2491360 Neighboring gene uncharacterized LOC124904614 Neighboring gene growth arrest and DNA damage inducible beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2511755-2512265 Neighboring gene uncharacterized LOC124904789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13697 Neighboring gene RNA, U6 small nuclear 993, pseudogene Neighboring gene G protein subunit gamma 7

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
  3. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 9800
  • Sharpr-MPRA regulatory region 4128

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_057562.3 

    Range
    101..930
    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
    2494325..2495154
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    2470534..2471363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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