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LOC126806452 BRD4-independent group 4 enhancer GRCh37_chr2:192053185-192054384 [ Homo sapiens (human) ]

Gene ID: 126806452, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806452
Gene description
BRD4-independent group 4 enhancer GRCh37_chr2:192053185-192054384
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 region 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. [provided by RefSeq, Sep 2022]
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Genomic context

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See LOC126806452 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191188459..191189658)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (191677572..191678771)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (192053185..192054384)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191998534-191999034 Neighboring gene RNA, U6 small nuclear 959, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16879 Neighboring gene uncharacterized LOC105373804 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192055155-192055352 Neighboring gene high mobility group box 1 pseudogene 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16881 Neighboring gene MYO1B antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:192110016-192110638 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192112141-192112934 Neighboring gene Sharpr-MPRA regulatory region 1767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:192145626-192146126 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:192146127-192146627 Neighboring gene myosin IB Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192168644-192169562 Neighboring gene RNA, U6 small nuclear 1045, 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

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)

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_082772.1 

    Range
    101..1300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    191188459..191189658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    191677572..191678771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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