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LOC126863042 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:45945484-45946683 [ Homo sapiens (human) ]

Gene ID: 126863042, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863042
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:45945484-45946683
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. The major subregion had activity 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. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where both are associated with the NANOG transcription factor and are marked by the H3K27ac and H3K4me1 histone modifications, and one is additionally associated with OCT4. [provided by RefSeq, Nov 2022]
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Genomic context

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See LOC126863042 in Genome Data Viewer
Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (47316487..47318322)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (49054768..49056603)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene EYA transcriptional coactivator and phosphatase 2 Neighboring gene Sharpr-MPRA regulatory region 12423 Neighboring gene ribosomal protein S2 pseudogene 54 Neighboring gene microRNA 3616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17980 Neighboring gene Sharpr-MPRA regulatory region 5760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45836841-45837466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45837467-45838090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45863077-45863577 Neighboring gene zinc finger MYND-type containing 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45881941-45882441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45904588-45905088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45905089-45905589 Neighboring gene Sharpr-MPRA regulatory region 15539 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947067-45947983 Neighboring gene uncharacterized LOC100131496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947984-45948902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45950739-45951656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45957753-45958400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45959988-45960488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45964446-45965285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45965286-45966124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45968129-45968628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45971039-45971820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45974595-45975341 Neighboring gene uncharacterized LOC101927377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17984

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

  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45945231-45946148
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45946149-45947066

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_087539.2 

    Range
    101..1936
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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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    47316487..47318322
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    49054768..49056603
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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