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LOC126861511 BRD4-independent group 4 enhancer GRCh37_chr12:44318495-44319694 [ Homo sapiens (human) ]

Gene ID: 126861511, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861511
Gene description
BRD4-independent group 4 enhancer GRCh37_chr12:44318495-44319694
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 LOC126861511 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43924692..43925891)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43883390..43884588)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4370 Neighboring gene interleukin 1 receptor associated kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4372 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44230125-44230357 Neighboring gene transmembrane protein 117 Neighboring gene MPRA-validated peak1704 silencer Neighboring gene twinfilin actin binding protein 1 Neighboring gene NANOG hESC enhancer GRCh37_chr12:44293209-44293937 Neighboring gene MPRA-validated peak1705 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:44373209-44373840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6220 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:44422790-44423989 Neighboring gene zinc finger protein 75B, pseudogene Neighboring gene IQ motif containing F1 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

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_086010.1 

    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
    43924692..43925891
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    43883390..43884588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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