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LOC126806231 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:65058033-65059232 [ Homo sapiens (human) ]

Gene ID: 126806231, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806231
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:65058033-65059232
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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. A subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. This locus also includes three 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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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (64830899..64832098)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (64840334..64841533)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:65011799-65012342 Neighboring gene RNA, 7SL, cytoplasmic 341, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:65065480-65066679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15909 Neighboring gene long intergenic non-protein coding RNA 1800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15910 Neighboring gene Sharpr-MPRA regulatory region 2197 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:65087040-65087243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11569 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:65103167-65103373 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:65131242-65131436 Neighboring gene Sharpr-MPRA regulatory region 15627 Neighboring gene long intergenic non-protein coding RNA 2245 Neighboring gene RNA, 7SL, cytoplasmic 211, pseudogene

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 15906
  • ATAC-STARR-seq lymphoblastoid active region 15907
  • ATAC-STARR-seq lymphoblastoid active region 15908
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:65058547-65059163

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_082555.1 

    Range
    101..1300
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    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    64830899..64832098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    64840334..64841533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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