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LOC126088095 CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45626388-45627587 [ Homo sapiens (human) ]

Gene ID: 126088095, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126088095
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45626388-45627587
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 predicted to be an enhancer based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. A subregion 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, 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. Three overlapping subregions were validated as positively-acting cis-regulatory elements for the ICOSLG (inducible T cell costimulator ligand) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in either GM12878 lymphoblastoid cells, THP-1 monocytic cells, or anti-CD40- and anti-IgM-stimulated BJAB lymphoma cells. [provided by RefSeq, Apr 2023]
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Genomic context

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Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44206505..44207877)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42560603..42561975)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905035 Neighboring gene uncharacterized LOC105377139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45595498-45596144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45596145-45596790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45600775-45601276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45601277-45601776 Neighboring gene CRISPRi-FlowFISH-validated ICOSLG regulatory elements GRCh37_chr21:45616066-45616566 to GRCh37_chr21:45616069-45616569 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45616946-45617124 Neighboring gene uncharacterized LOC105372832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45621734-45622497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45622498-45623260 Neighboring gene uncharacterized LOC102725065 Neighboring gene CRISPRi-FlowFISH-validated ICOSLG regulatory elements GRCh37_chr21:45627759-45628259 and GRCh37_chr21:45627787-45628287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45628433-45629348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45633361-45633860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45642723-45643224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45643225-45643724 Neighboring gene inducible T cell costimulator ligand Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45645682-45646182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45646183-45646683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45659303-45660081 Neighboring gene CRISPRi-FlowFISH-validated ICOSLG and IFNGR2 regulatory element GRCh37_chr21:45660637-45661636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45662586-45663124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45667417-45668358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45669258-45669773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45669774-45670290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45670291-45670805 Neighboring gene DNMT3L antisense RNA 1 Neighboring gene DNA methyltransferase 3 like

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. Genome-wide enhancer maps link risk variants to disease genes. Nasser J, et al. Nature, 2021 May. PMID 33828297, Free PMC Article
  2. 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

General gene information

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Other Names

  • CRISPRi-FlowFISH-validated ICOSLG regulatory element GRCh37_chr21:45626561-45627626
  • CRISPRi-FlowFISH-validated ICOSLG regulatory element GRCh37_chr21:45626602-45627102
  • CRISPRi-FlowFISH-validated ICOSLG regulatory element GRCh37_chr21:45626711-45627760

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_081667.2 

    Range
    101..1473
    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    44206505..44207877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    42560603..42561975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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