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LOC126863173 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47525234-47526433 [ Homo sapiens (human) ]

Gene ID: 126863173, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863173
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47525234-47526433
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 was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Dec 2022]
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Genomic context

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See LOC126863173 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (47129591..47130790)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (47619525..47620724)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 22A Neighboring gene uncharacterized LOC124905141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47462501-47463001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47485844-47486817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47510887-47511388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47511389-47511888 Neighboring gene uncharacterized protein UNQ6126/PRO20091 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47519502-47520188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47521565-47522252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47522253-47522938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47526945-47527808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47532865-47533804 Neighboring gene uncharacterized LOC124905140 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:47550202-47551401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47560499-47561076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47566897-47567396 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:47571494-47572693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47588168-47588668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47608371-47608872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47643595-47644094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47677397-47677897 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47724406-47725605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19269 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47765496-47766695 Neighboring gene uncharacterized LOC339685

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

  • H3K4me1 hESC enhancer GRCh37_chr22:47525272-47525791

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_087669.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    47129591..47130790
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    47619525..47620724
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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