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LOC126863081 BRD4-independent group 4 enhancer GRCh37_chr20:60538354-60539553 [ Homo sapiens (human) ]

Gene ID: 126863081, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863081
Gene description
BRD4-independent group 4 enhancer GRCh37_chr20:60538354-60539553
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 region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in HCT116 colorectal carcinoma cells, where it was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. A subregion was also identified as an uncharacterized cis-regulatory element (CRE) that lacked a promoter, enhancer or CTCF-bound insulator chromatin signature. That subregion was validated as a silencer that could repress activity of a super core promoter (SCP1) by STARR-seq MPRAs in K562 erythroleukemia cells. [provided by RefSeq, Apr 2023]
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Genomic context

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Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (61963298..61964497)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (63751754..63752944)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cadherin 4 Neighboring gene uncharacterized LOC100128310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60321925-60322425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60321424-60321924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60328223-60329209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60329210-60330195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60332068-60332568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60332569-60333069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60340987-60341560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60342316-60342816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60344183-60344683 Neighboring gene Sharpr-MPRA regulatory region 10002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60378177-60378697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60377656-60378176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60383971-60384684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60410329-60410830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60434505-60435006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60453666-60454166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60454167-60454667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60466559-60467058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60476138-60477031 Neighboring gene Sharpr-MPRA regulatory region 9437 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:60501357-60502556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60507695-60508426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60509158-60509888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60523619-60524118 Neighboring gene MPRA-validated peak4298 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60527344-60527916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60528727-60529226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60540456-60541084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60541085-60541714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60551058-60551558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60551559-60552059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60564347-60565309 Neighboring gene uncharacterized LOC105372704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60578426-60578926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60578927-60579427 Neighboring gene microRNA 1257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60589023-60589524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60596697-60597476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60597477-60598254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60603061-60603696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18196 Neighboring gene TATA-box binding protein associated factor 4 Neighboring gene ribosomal protein L17 pseudogene 48

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. Candidate silencer elements for the human and mouse genomes. Doni Jayavelu N, et al. Nat Commun, 2020 Feb 26. PMID 32103011, Free PMC Article
  2. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, 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

  • MPRA-validated peak4299 silencer

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_087577.1 

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

    Range
    61963298..61964497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187623.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    73885..75084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    63751754..63752944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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