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LOC126806262 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:85133043-85134242 [ Homo sapiens (human) ]

Gene ID: 126806262, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806262
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:85133043-85134242
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 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. 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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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (84905919..84907118)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (84907744..84908943)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene TraB domain containing 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85107450-85107952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85107953-85108453 Neighboring gene ribosomal protein L12 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16103 Neighboring gene uncharacterized LOC105374837 Neighboring gene uncharacterized LOC105374836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11690 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:85146489-85147688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16107 Neighboring gene thymosin beta 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85153187-85153848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16110 Neighboring gene ribosomal protein S2 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16113 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85184893-85185581 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85185582-85186272 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85186273-85186962 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85186963-85187652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85201557-85202098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85202099-85202640 Neighboring gene potassium channel modulatory factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85250397-85251081

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 across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 16104

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_082585.1 

    Range
    101..1300
    Download
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    84905919..84907118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    84907744..84908943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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