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LOC112694741 BRD4-independent group 4 enhancer GRCh37_chr21:36604354-36605553 [ Homo sapiens (human) ]

Gene ID: 112694741, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694741
Gene description
BRD4-independent group 4 enhancer GRCh37_chr21:36604354-36605553
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 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 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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Aug 2022]
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Genomic context

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See LOC112694741 in Genome Data Viewer
Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (35232057..35233256)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (33614840..33616039)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (36604829..36605123)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene RUNX family transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18417 Neighboring gene RUNX1 intronic transcript 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:36466332-36466488 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:36477528-36477706 Neighboring gene Sharpr-MPRA regulatory region 12281 Neighboring gene uncharacterized LOC124905015 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:36589399-36590598 Neighboring gene enhancer 4 sub-fragment of super-enhancer upstream of RUNX1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:36646465-36646966 Neighboring gene NANOG hESC enhancer GRCh37_chr21:36743463-36743964 Neighboring gene uncharacterized LOC100506403 Neighboring gene Sharpr-MPRA regulatory region 14404 Neighboring gene Sharpr-MPRA regulatory region 5568 Neighboring gene NANOG hESC enhancer GRCh37_chr21:36786783-36787398 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:36878653-36879242 Neighboring gene NANOG hESC enhancer GRCh37_chr21:36880486-36881006 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:36897177-36898376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18420 Neighboring gene ribosomal protein L34 pseudogene 3 Neighboring gene NANOG hESC enhancer GRCh37_chr21:36965152-36965707 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:37006276-37007475 Neighboring gene microRNA 802

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. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
  2. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
  3. 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 6677

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_060770.2 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    35232057..35233256
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    33614840..33616039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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