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LOC112486227 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90061681-90062880 [ Homo sapiens (human) ]

Gene ID: 112486227, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112486227
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90061681-90062880
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. The major subregion was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in HCT116 colorectal carcinoma cells, where it was defined as a group 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in naive and primed human embryonic stem cells, where both are associated with the NANOG transcription factor and are marked by the H3K27ac and H3K4me1 histone modifications. Another subregion 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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 25:Art, potential CNV or repetitive artifacts) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 25:Art). 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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Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (89994474..89996472)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (96080764..96082762)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90061089..90061383)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11430 Neighboring gene small nucleolar RNA, H/ACA box 119 Neighboring gene differentially expressed in FDCP 8 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90039036-90040019 Neighboring gene CENPB DNA-binding domain containing 1, pseudogene Neighboring gene AFG3 like matrix AAA peptidase subunit 1, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90054784-90054958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:90059900-90060881 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46884 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46891 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90066749-90066899 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46902 Neighboring gene dysbindin domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7936 Neighboring gene Sharpr-MPRA regulatory region 21 Neighboring gene growth arrest specific 8 Neighboring gene GAS8 antisense RNA 1

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. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
  2. 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
  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 11432
  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90060882-90061862
  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90061863-90062844
  • Sharpr-MPRA regulatory region 3926

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_056871.2 

    Range
    101..2099
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    89994474..89996472
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    96080764..96082762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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