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LOC126806149 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:12866409-12867608 [ Homo sapiens (human) ]

Gene ID: 126806149, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806149
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:12866409-12867608
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. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Sep 2022]
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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 (12726283..12727482)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (12755348..12756547)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MIR3681 host gene Neighboring gene uncharacterized LOC107985853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11181 Neighboring gene NANOG hESC enhancer GRCh37_chr2:12714950-12715488 Neighboring gene MPRA-validated peak3595 silencer Neighboring gene Sharpr-MPRA regulatory region 12883 Neighboring gene MPRA-validated peak3596 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:12766335-12766899 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:12804005-12804220 Neighboring gene uncharacterized LOC124905974 Neighboring gene CRISPRi-validated cis-regulatory element chr2.599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:12856972-12857611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11182 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:12858891-12859528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:12909653-12910503 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:12956433-12957632 Neighboring gene microRNA 3125 Neighboring gene tribbles pseudokinase 2 Neighboring gene CRISPR/Cas9-targeted silencer 9 Neighboring gene uncharacterized LOC100506474 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:13120952-13121455 Neighboring gene uncharacterized LOC105373436

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

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

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_082473.1 

    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
    12726283..12727482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    12755348..12756547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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