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LOC126861974 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:69417212-69418411 [ Homo sapiens (human) ]

Gene ID: 126861974, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861974
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:69417212-69418411
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 marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells. [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (68950495..68952227)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63159546..63161278)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene actinin alpha 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69357231-69357731 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69387590-69388164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:69390697-69391234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:69391235-69391770 Neighboring gene NANOG hESC enhancer GRCh37_chr14:69400001-69400511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69401885-69402386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69402387-69402886 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69405059-69405892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69405893-69406726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69408246-69409036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69409037-69409826 Neighboring gene BANF1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69414806-69415354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69418945-69419802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69421427-69422153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69422154-69422879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69428631-69429326 Neighboring gene uncharacterized LOC124903336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69434488-69435326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69439113-69440068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69440086-69440586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69444887-69445886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:69445887-69446885 Neighboring gene ACTN1 divergent transcript

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_chr14:69417231-69418088
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69418089-69418944

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_086472.2 

    Range
    101..1833
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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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    68950495..68952227
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    63159546..63161278
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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