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LOC126861618 BRD4-independent group 4 enhancer GRCh37_chr12:104252387-104253586 [ Homo sapiens (human) ]

Gene ID: 126861618, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861618
Gene description
BRD4-independent group 4 enhancer GRCh37_chr12:104252387-104253586
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 LOC126861618 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 (103858609..103859808)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (103820392..103821591)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene 5'-nucleotidase domain containing 3 Neighboring gene uncharacterized LOC124903000 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23314 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23365 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4782 Neighboring gene uncharacterized LOC107984433 Neighboring gene tetratricopeptide repeat domain 41, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6896 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:104295143-104295644 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6898 Neighboring gene uncharacterized LOC124903001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6900 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23563 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104321935-104322117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6902 Neighboring gene heat shock protein 90 beta family member 1 Neighboring gene microRNA 3652

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_087848.1 

    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
    103858609..103859808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    103820392..103821591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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