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LOC106783503 H3K27ac hESC enhancer GRCh37_chr19:19773833-19774815 [ Homo sapiens (human) ]

Gene ID: 106783503, updated on 10-Oct-2023

Summary

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Gene symbol
LOC106783503
Gene description
H3K27ac hESC enhancer GRCh37_chr19:19773833-19774815
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 region includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. A subregion, which is conserved between human and pufferfish and which overlaps a 5' terminal exon of the ATPase type 13A1 (ATP13A1) gene on chromosome 19, can also function as an enhancer in human Jurkat T cells. The chromatin structure of that subregion represents a histone acetylation island in human T cells based on the diacetylation of histone H3 at lysines 9 and 14. This locus also includes two accessible chromatin subregions, one of which was validated as an enhancer and the other as a silencer based on their ability to activate or 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:
19p13.11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19663024..19664012)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19800534..19801522)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19774087..19774188)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10451 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19739417-19740339 Neighboring gene lysophosphatidic acid receptor 2 Neighboring gene GEM interacting protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19753343-19754298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10453 Neighboring gene ATPase 13A1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19772231-19772878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10455 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19779337-19779903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19779904-19780469 Neighboring gene zinc finger protein 101 Neighboring gene zinc finger protein 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10457

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-wide prediction of conserved and nonconserved enhancers by histone acetylation patterns. Roh TY, et al. Genome Res, 2007 Jan. PMID 17135569, Free PMC Article
  2. Active chromatin domains are defined by acetylation islands revealed by genome-wide mapping. Roh TY, et al. Genes Dev, 2005 Mar 1. PMID 15706033, Free PMC Article
  3. 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
  4. 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 active region 14369
  • ATAC-STARR-seq lymphoblastoid silent region 10454
  • conserved AI C14
  • conserved acetylation island sequence C14 enhancer

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_046087.3 

    Range
    101..1089
    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
    19663024..19664012
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19800534..19801522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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