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LOC126863134 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:35772530-35773729 [ Homo sapiens (human) ]

Gene ID: 126863134, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863134
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:35772530-35773729
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 naive human embryonic stem cells, where it is marked by the H3K27ac histone modification. 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: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (35376537..35377736)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (35834555..35835754)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene target of myb1 membrane trafficking protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35732808-35733717 Neighboring gene microRNA 3909 Neighboring gene microRNA 6069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35745310-35745842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35745843-35746375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35746966-35747474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35748292-35749167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13656 Neighboring gene heme oxygenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18908 Neighboring gene minichromosome maintenance complex component 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35821835-35822340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35822341-35822848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35822849-35823354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35831135-35831636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18909 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35844065-35845031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35845032-35845997

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 18903
  • H3K27ac hESC enhancer GRCh37_chr22:35772827-35773374

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_087630.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    35376537..35377736
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    35834555..35835754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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