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LOC121627895 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:17829988-17831187 [ Homo sapiens (human) ]

Gene ID: 121627895, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627895
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:17829988-17831187
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. It 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. This sequence 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 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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Aug 2022]
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Genomic context

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Location:
20p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (17849344..17850543)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (17900482..17901681)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (17830529..17830823)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17594559-17595282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17595283-17596006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17616513-17617386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17617387-17618260 Neighboring gene ribosome binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17629025-17629728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12694 Neighboring gene Sharpr-MPRA regulatory region 8855 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:17660181-17661380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:17661572-17662244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17566 Neighboring gene uncharacterized LOC105372547 Neighboring gene BANF family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17731191-17731743 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:17733069-17733774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17745451-17745952 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59976 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:17782572-17782760 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59986 Neighboring gene uncharacterized LOC107985440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17815795-17816372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17839885-17840458 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17851770-17852498 Neighboring gene uncharacterized LOC105372548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17856497-17857399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17862693-17863606 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:17868266-17869465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17876154-17876830 Neighboring gene RNA, U6 small nuclear 192, pseudogene

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

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

  • Sharpr-MPRA regulatory region 14281

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_075086.2 

    Range
    101..1300
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    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    17849344..17850543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315966.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    78243..79442
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    17900482..17901681
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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