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LOC125338470 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3623835-3625034 [ Homo sapiens (human) ]

Gene ID: 125338470, updated on 12-Sep-2024

Summary

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Gene symbol
LOC125338470
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3623835-3625034
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. A subregion was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay 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. A subregion was also validated as a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). Another subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC125338470 in Genome Data Viewer
Location:
18p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3623480..3625035)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3783949..3785503)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3623479..3625034)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene DLG associated protein 1 Neighboring gene Sharpr-MPRA regulatory region 8249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3595284-3596254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3596255-3597226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3601961-3602755 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3603326-3604525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3610951-3611462 Neighboring gene DLGAP1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3625199-3625770 Neighboring gene DLGAP1 antisense RNA 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:3652584-3653783 Neighboring gene Sharpr-MPRA regulatory region 6172 Neighboring gene DLGAP1 antisense RNA 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9258 Neighboring gene small nucleolar RNA U13

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. 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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3623479-3624052
  • Sharpr-MPRA regulatory region 14378

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_080654.3 

    Range
    101..1656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    3623480..3625035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    3783949..3785503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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