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LOC126860490 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123874507-123875706 [ Homo sapiens (human) ]

Gene ID: 126860490, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860490
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123874507-123875706
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in naive and primed human embryonic stem cells. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in K562 erythroleukemia cells. [provided by RefSeq, Jun 2023]
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (122861715..122863467)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (123992891..123994644)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902012 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:123792337-123792838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:123792839-123793338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19486 Neighboring gene NANOG hESC enhancer GRCh37_chr8:123795211-123795745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27854 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:123799669-123800426 Neighboring gene cyclin dependent kinase 5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27857 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:123809400-123810599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123814233-123815192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123815193-123816150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:123817802-123819001 Neighboring gene zinc fingers and homeoboxes 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123848010-123849209 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:123849857-123850688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123869217-123869717 Neighboring gene uncharacterized LOC124902011 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:123927788-123928344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:123960147-123960646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19492 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:124000413-124001612 Neighboring gene uncharacterized LOC124902013 Neighboring gene derlin 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. Systematic identification of silencers in human cells. Pang B, et al. Nat Genet, 2020 Mar. PMID 32094911, 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
  3. 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-H3K4me1 hESC enhancer GRCh37_chr8:123873954-123874578
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:123874579-123875203
  • ReSE screen-validated silencer GRCh37_chr8:123874186-123874383

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_084990.2 

    Range
    101..1853
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    122861715..122863467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    123992891..123994644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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