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LOC126805749 BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 [ Homo sapiens (human) ]

Gene ID: 126805749, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126805749
Gene description
BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485
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. In HCT116 colorectal carcinoma cells, a subregion 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. Another subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Jan 2023]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is regulatory element in the vicinity of coronavirus related gene(s).
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Genomic context

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See LOC126805749 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64846284..64847802)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64724273..64725790)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cache domain containing 1 Neighboring gene microRNA 4794 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65129441-65129616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 957 Neighboring gene ribonucleoprotein, PTB binding 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65326691-65327236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1134 Neighboring gene Janus kinase 1 Neighboring gene Sharpr-MPRA regulatory region 6411 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 958 Neighboring gene Sharpr-MPRA regulatory region 2453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 959 Neighboring gene long intergenic non-protein coding RNA 1359 Neighboring gene solute carrier family 2 member 3 pseudogene 2

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • H3K4me1 hESC enhancer GRCh37_chr1:65311967-65312468

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_082073.2 

    Range
    101..1619
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    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    64846284..64847802
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    64724273..64725790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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