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LOC126806818 BRD4-independent group 4 enhancer GRCh37_chr3:134145749-134146948 [ Homo sapiens (human) ]

Gene ID: 126806818, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806818
Gene description
BRD4-independent group 4 enhancer GRCh37_chr3:134145749-134146948
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, 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. A 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, Dec 2022]
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Genomic context

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See LOC126806818 in Genome Data Viewer
Location:
chromosome: 3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (134426907..134428106)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (137172067..137173266)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (134145749..134146948)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:134092549-134093348 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:134093349-134094148 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:134094149-134094946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134100919-134101418 Neighboring gene angiomotin like 2 Neighboring gene microRNA 6827 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:134124670-134125376 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:134126084-134126789 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene Neighboring gene high mobility group box 3 pseudogene 13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:134181408-134182134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:134183586-134184310 Neighboring gene microRNA 4788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20563 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20564 Neighboring gene anaphase promoting complex subunit 13 Neighboring gene centrosomal protein 63

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • H3K4me1 hESC enhancer GRCh37_chr3:134146073-134146818

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_083138.1 

    Range
    101..1300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    134426907..134428106
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    137172067..137173266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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