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LOC126805619 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:11998825-12000024 [ Homo sapiens (human) ]

Gene ID: 126805619, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126805619
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:11998825-12000024
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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. A subregion marked by the H3K27ac and H3K4me1 histone modifications was also shown to be an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Nov 2022]
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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 (11938768..11939967)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11482888..11484087)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 181 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11977020-11977175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11985428-11986090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11986091-11986754 Neighboring gene KIAA2013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11993557-11994482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11994483-11995406 Neighboring gene Sharpr-MPRA regulatory region 8260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12005168-12005843 Neighboring gene procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12023296-12023497 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12026474-12026974 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12026975-12027475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 183 Neighboring gene mitofusin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12060855-12061784 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12065587-12065864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12067964-12068629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12068630-12069294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12079342-12080212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12080213-12081083 Neighboring gene migration and invasion inhibitory protein Neighboring gene microRNA 6729

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

General gene information

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Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11998987-11999879

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_081943.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    11938768..11939967
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    11482888..11484087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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