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LOC126862570 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:41149993-41151192 [ Homo sapiens (human) ]

Gene ID: 126862570, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862570
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:41149993-41151192
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 (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 three accessible chromatin subregions that were validated as enhancers based on their ability to activate 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: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42997976..42999175)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43855259..43856457)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene PTGES3L-AARSD1 readthrough Neighboring gene MPRA-validated peak2851 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41124646-41125212 Neighboring gene prostaglandin E synthase 3 like Neighboring gene MPRA-validated peak2852 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8549 Neighboring gene RUN domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41142673-41143174 Neighboring gene uncharacterized LOC124904006 Neighboring gene ribosomal protein L27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12233 Neighboring gene interferon induced protein 35 Neighboring gene vesicle amine transport 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 active region 12230
  • ATAC-STARR-seq lymphoblastoid active region 12231
  • ATAC-STARR-seq lymphoblastoid active region 12232

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_087067.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42997976..42999175
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43855259..43856457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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