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LOC126861521 BRD4-independent group 4 enhancer GRCh37_chr12:49936243-49937442 [ Homo sapiens (human) ]

Gene ID: 126861521, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861521
Gene description
BRD4-independent group 4 enhancer GRCh37_chr12:49936243-49937442
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 naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Jan 2023]
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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 (49542460..49543919)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49504706..49506165)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49741370-49742313 Neighboring gene DnaJ heat shock protein family (Hsp40) member C22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6315 Neighboring gene spermatogenesis associated serine rich 2 Neighboring gene FGFR1 oncogene partner 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 14813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49846952-49847452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49873095-49873682 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49907610-49907788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49932121-49932932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49932933-49933742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49941330-49942138 Neighboring gene uncharacterized LOC105369761 Neighboring gene potassium voltage-gated channel subfamily H member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49961221-49962024 Neighboring gene microspherule protein 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. 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_chr12:49936789-49937702

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_086020.2 

    Range
    101..1560
    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
    49542460..49543919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    49504706..49506165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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