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LOC126861632 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:109231638-109232837 [ Homo sapiens (human) ]

Gene ID: 126861632, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126861632
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:109231638-109232837
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. 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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See LOC126861632 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108837862..108839061)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108812560..108813759)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109231638..109232837)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:109195372-109196325 Neighboring gene uncharacterized LOC101929204 Neighboring gene slingshot protein phosphatase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:109199370-109200569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109207967-109208570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109221436-109222007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109232831-109233432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4836 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:109247741-109248940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109250055-109250556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6982 Neighboring gene microRNA 619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109273628-109274245 Neighboring gene MPRA-validated peak1937 silencer Neighboring gene uncharacterized LOC124903011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109300977-109301477 Neighboring gene D-amino acid oxidase Neighboring gene NANOG hESC enhancer GRCh37_chr12:109311835-109312350 Neighboring gene SV2 related protein Neighboring gene RNA, U6 small nuclear 361, pseudogene

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 within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 6981

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_086130.1 

    Range
    101..1300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    108837862..108839061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108812560..108813759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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