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LOC126806655 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:41012603-41013802 [ Homo sapiens (human) ]

Gene ID: 126806655, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806655
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:41012603-41013802
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 was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) 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. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
chromosome: 3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (40971112..40972311)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (40986464..40987663)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377043 Neighboring gene MPRA-validated peak4616 silencer Neighboring gene ribosomal protein S27 pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr3:40885161-40886029 Neighboring gene uncharacterized LOC124906230 Neighboring gene NANOG hESC enhancer GRCh37_chr3:40912794-40913474 Neighboring gene NANOG hESC enhancer GRCh37_chr3:40961458-40962007 Neighboring gene Sharpr-MPRA regulatory region 10975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:41010264-41010764 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:41037247-41037747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:41039383-41040340 Neighboring gene Sharpr-MPRA regulatory region 4350 Neighboring gene uncharacterized LOC105377045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:41137060-41138259 Neighboring gene Sharpr-MPRA regulatory region 10354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19723 Neighboring gene mitochondrial ribosomal protein S31 pseudogene 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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid silent region 14235

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_082975.1 

    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    40971112..40972311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    40986464..40987663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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