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LOC126653399 CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:46347045-46348244 [ Homo sapiens (human) ]

Gene ID: 126653399, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126653399
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:46347045-46348244
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 includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. In HCT116 colorectal carcinoma cells, a subregion was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. Another subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44926898..44928329)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43287676..43289107)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene PTTG1 interacting protein Neighboring gene uncharacterized LOC124905039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18578 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46292726-46293226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46293227-46293727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46293885-46294562 Neighboring gene Sharpr-MPRA regulatory region 2317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46317333-46317948 Neighboring gene integrin subunit beta 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46326258-46326823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46326824-46327388 Neighboring gene uncharacterized LOC107987303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46329075-46329574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46333656-46334156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46337409-46338321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46345923-46346812 Neighboring gene ITGB2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18581 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46351267-46352146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13396 Neighboring gene long intergenic non-protein coding RNA 1547 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46359630-46360194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46369323-46369908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46369909-46370494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46371986-46372936 Neighboring gene SLX9 ribosome biogenesis factor Neighboring gene FAM207A intron CAGE-defined mid-level expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46389870-46390685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46390686-46391500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46398896-46399794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46399795-46400691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46406949-46407903 Neighboring gene long intergenic non-protein coding RNA 163

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. 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_chr21:46346813-46347700

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_081892.2 

    Range
    101..1532
    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
    44926898..44928329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43287676..43289107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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