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LOC121740675 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060 [ Homo sapiens (human) ]

Gene ID: 121740675, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121740675
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060
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. 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 an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). Another subregion was also validated as an enhancer by ChIP-STARR-seq in primed 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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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (944901..946424)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1049906..1051429)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (985289..985583)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene uncharacterized LOC124901568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:923699-924455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:925261-925974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:925975-926688 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_100798 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:932665-932864 Neighboring gene guided entry of tail-anchored proteins factor 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:938411-938998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:938999-939585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:947339-948037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17826 Neighboring gene ArfGAP with dual PH domains 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:967671-968257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:988546-989191 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:989192-989836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:992766-993377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17830 Neighboring gene uncharacterized LOC124901569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:994600-995209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1002516-1003103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1006706-1007206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1007207-1007707 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1014408-1015290 Neighboring gene cytochrome c oxidase assembly factor COX19

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_chr7:984537-985451
  • Sharpr-MPRA regulatory region 8554

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_075737.3 

    Range
    101..1624
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    944901..946424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    1049906..1051429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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