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LOC126861509 BRD4-independent group 4 enhancer GRCh37_chr12:42858567-42859766 [ Homo sapiens (human) ]

Gene ID: 126861509, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861509
Gene description
BRD4-independent group 4 enhancer GRCh37_chr12:42858567-42859766
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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Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (42464765..42465964)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (42422623..42423822)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene periphilin 1 Neighboring gene RNA, U6 small nuclear 249, pseudogene Neighboring gene FMR1 autosomal homolog 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6214 Neighboring gene prickle planar cell polarity protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6215 Neighboring gene MPRA-validated peak1687 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42875079-42875690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4366 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:42877741-42878649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4365 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42879439-42880178 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:42904440-42905187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:42946987-42947486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:42984271-42984828 Neighboring gene NANOG hESC enhancer GRCh37_chr12:42996970-42997470 Neighboring gene NANOG hESC enhancer GRCh37_chr12:42997471-42997971 Neighboring gene MPRA-validated peak1688 silencer Neighboring gene long intergenic non-protein coding RNA 2402 Neighboring gene CDGSH iron sulfur domain 1 pseudogene Neighboring gene long intergenic non-protein coding RNA 2451 Neighboring gene ribosomal protein S27 pseudogene 21

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

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_086008.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    42464765..42465964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    42422623..42423822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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