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LOC126861412 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:1023012-1024211 [ Homo sapiens (human) ]

Gene ID: 126861412, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861412
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:1023012-1024211
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 histone modification were also shown to be active enhancers 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: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (913846..915453)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (909617..911223)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929432 Neighboring gene long intergenic non-protein coding RNA 2455 Neighboring gene CRISPRi-validated cis-regulatory element chr12.51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5790 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:861758-862476 and GRCh37_chr12:862477-863195 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5791 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:917646-918146 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:918147-918647 Neighboring gene WNK lysine deficient protein kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5792 Neighboring gene uncharacterized LOC124902855 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1058032-1058690 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1058691-1059349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1067429-1067930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1067931-1068430 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:1083331-1083878 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:1092618-1092819 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:1099220-1099782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4110 Neighboring gene Sharpr-MPRA regulatory region 6010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:1100344-1100905 Neighboring gene RAD52 homolog, DNA repair protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1115216-1115716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1115717-1116217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1181067-1181567 Neighboring gene ELKS/RAB6-interacting/CAST family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5795 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:1224566-1225765 Neighboring gene uncharacterized LOC124902857

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 hESC enhancer GRCh37_chr12:1023618-1024118
  • H3K27ac hESC enhancer GRCh37_chr12:1024119-1024619

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_085911.2 

    Range
    101..1708
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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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    913846..915453
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    909617..911223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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