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LOC126807540 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:145407216-145408415 [ Homo sapiens (human) ]

Gene ID: 126807540, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807540
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:145407216-145408415
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: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (146027653..146028852)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (146562054..146563214)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene glutaredoxin and cysteine rich domain containing 2 Neighboring gene uncharacterized LOC107986458 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145315879-145316456 Neighboring gene MPRA-validated peak5514 silencer Neighboring gene SH3 domain containing ring finger 2 Neighboring gene Sharpr-MPRA regulatory region 2549 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80964 Neighboring gene apolipoprotein O like pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80983 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145405605-145406400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:145406401-145407194 Neighboring gene uncharacterized LOC107986459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:145428236-145428736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23358 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:145452250-145453204 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:145453205-145454157 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81045 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81119 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:145481092-145481650 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81180 Neighboring gene MPRA-validated peak5518 silencer Neighboring gene PLAC8 like 1

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_083854.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    146027653..146028852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    146562054..146563214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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