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LOC126862681 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3603326-3604525 [ Homo sapiens (human) ]

Gene ID: 126862681, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862681
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3603326-3604525
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 region includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. The major subregion had activity 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 OCT4 and NANOG transcription factors and are marked by the H3K27ac histone modification, and one is additionally marked by H3K4me1. [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3602758..3604527)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3762343..3764110)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene DLG associated protein 1 Neighboring gene zinc finger protein 592 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13050 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 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 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3623835-3625034 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 uncharacterized LOC105371967 Neighboring gene Sharpr-MPRA regulatory region 6172 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. 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

General gene information

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Other Names

  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:3603551-3604344
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3602756-3603550

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_087178.2 

    Range
    101..1870
    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    3602758..3604527
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    3762343..3764110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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