U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC125177447 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27481880-27483079 [ Homo sapiens (human) ]

Gene ID: 125177447, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC125177447
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27481880-27483079
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. An overlapping subregion was also validated as a functional repressive element by Sharpr-MPRA (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 14:Gen5', transcription transition, highly expressed genes towards 5' end). 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]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29154020..29156305)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30096713..30098998)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:27359363-27360197 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27369638-27370526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27381450-27382004 Neighboring gene pipecolic acid and sarcosine oxidase Neighboring gene myosin XVIIIA Neighboring gene Sharpr-MPRA regulatory region 1762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27423404-27423904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27423905-27424405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27429751-27430716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27435597-27436179 Neighboring gene Sharpr-MPRA regulatory region 1183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27454495-27455030 Neighboring gene Sharpr-MPRA regulatory region 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27464737-27465720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27465721-27466704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8364 Neighboring gene uncharacterized LOC124903967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8367 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27507275-27507495 Neighboring gene gap junction protein alpha 4 pseudogene Neighboring gene twinfilin 1 pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

General gene information

Go to the top of the page Help

Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27481038-27481965
  • Sharpr-MPRA regulatory region 271

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_080502.3 

    Range
    101..2386
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    29154020..29156305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    30096713..30098998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases