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LOC126861983 BRD4-independent group 4 enhancer GRCh37_chr14:70883594-70884793 [ Homo sapiens (human) ]

Gene ID: 126861983, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861983
Gene description
BRD4-independent group 4 enhancer GRCh37_chr14:70883594-70884793
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 includes an enhancer that was validated 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. This locus also includes two accessible chromatin subregions that were validated as enhancers based on their ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC126861983 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (70416866..70418076)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (64622976..64624184)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SYNJ2BP-COX16 readthrough Neighboring gene cytochrome c oxidase assembly factor COX16 Neighboring gene uncharacterized LOC124903340 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:70816287-70817486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8652 Neighboring gene RNA, U2 small nuclear 51, pseudogene Neighboring gene synaptojanin 2 binding protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:70866018-70866578 Neighboring gene uncharacterized LOC124903339 Neighboring gene MPRA-validated peak2189 silencer Neighboring gene ADAM metallopeptidase domain 21 Neighboring gene ADAM metallopeptidase domain 20 pseudogene 1

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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid active region 8653
  • ATAC-STARR-seq lymphoblastoid active region 8654

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_086481.2 

    Range
    101..1311
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    70416866..70418076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    64622976..64624184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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