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LOC126860167 BRD4-independent group 4 enhancer GRCh37_chr7:123197145-123198344 [ Homo sapiens (human) ]

Gene ID: 126860167, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860167
Gene description
BRD4-independent group 4 enhancer GRCh37_chr7:123197145-123198344
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 enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA). The major subregion had activity 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. Two subregions marked by the H3K27ac histone modification were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells. 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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Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (123556948..123558295)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (124873716..124875063)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 296, pseudogene Neighboring gene IQ motif and ubiquitin domain containing Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:123167408-123168034 Neighboring gene uncharacterized LOC124901740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26567 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 Neighboring gene ankyrin repeat and SOCS box containing 15 Neighboring gene Sharpr-MPRA regulatory region 8884 Neighboring gene ASB15 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:123269048-123269605 Neighboring gene leiomodin 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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 26568
  • ATAC-STARR-seq lymphoblastoid active region 26569
  • H3K27ac hESC enhancer GRCh37_chr7:123197002-123197580
  • H3K27ac hESC enhancer GRCh37_chr7:123197581-123198159

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_084668.3 

    Range
    101..1448
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    123556948..123558295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    124873716..124875063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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