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LOC126805756 BRD4-independent group 4 enhancer GRCh37_chr1:70818812-70820011 [ Homo sapiens (human) ]

Gene ID: 126805756, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126805756
Gene description
BRD4-independent group 4 enhancer GRCh37_chr1:70818812-70820011
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 (MPRA). 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 associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its 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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Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (70353129..70354511)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (70231638..70233020)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 40 Neighboring gene RNA, 7SL, cytoplasmic 242, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1187 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:70686957-70687502 Neighboring gene serine and arginine rich splicing factor 11 Neighboring gene MPRA-validated peak281 silencer Neighboring gene ankyrin repeat domain 13C Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:70820190-70821107 Neighboring gene ANKRD13C divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1193 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:70826052-70826245 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:70833556-70834402 Neighboring gene long intergenic non-protein coding RNA 3102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:70837138-70838020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:70838021-70838902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1195 Neighboring gene cystathionine gamma-lyase

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 across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 1188
  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:70819271-70820189

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_082080.3 

    Range
    101..1483
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    70353129..70354511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    70231638..70233020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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