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LOC126807476 BRD4-independent group 4 enhancer GRCh37_chr5:111496090-111497289 [ Homo sapiens (human) ]

Gene ID: 126807476, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126807476
Gene description
BRD4-independent group 4 enhancer GRCh37_chr5:111496090-111497289
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 (MPRA) 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 naive and primed human embryonic stem cells, where it associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. This locus also includes four 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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See LOC126807476 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (112160393..112161592)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (112670847..112672046)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (111496090..111497289)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene neuronal regeneration related protein Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 14 Neighboring gene NREP antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111326855-111327356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111327357-111327856 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:111333199-111334398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22904 Neighboring gene EPB41L4A antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:111501161-111501838 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:111501839-111502516 Neighboring gene erythrocyte membrane protein band 4.1 like 4A Neighboring gene uncharacterized LOC124901044 Neighboring gene small nucleolar RNA, H/ACA box 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111553293-111553794 Neighboring gene uncharacterized LOC101927023 Neighboring gene NANOG hESC enhancer GRCh37_chr5:111573109-111573620

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, Free PMC Article
  3. 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

  • ATAC-STARR-seq lymphoblastoid active region 22905
  • ATAC-STARR-seq lymphoblastoid active region 22906
  • ATAC-STARR-seq lymphoblastoid active region 22907
  • ATAC-STARR-seq lymphoblastoid active region 22908
  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:111496190-111496922

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_083790.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    112160393..112161592
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    112670847..112672046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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