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LOC126860567 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5509079-5510278 [ Homo sapiens (human) ]

Gene ID: 126860567, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126860567
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5509079-5510278
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 an enhancer that was validated 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 an enhancer based on its 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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See LOC126860567 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (5509079..5510299)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (5514196..5515416)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5509079..5510299)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene plasminogen receptor with a C-terminal lysine Neighboring gene ReSE screen-validated silencer GRCh37_chr9:5418516-5418928 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:5437227-5438426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28159 Neighboring gene ring finger protein 152 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28161 Neighboring gene uncharacterized LOC124902114 Neighboring gene Sharpr-MPRA regulatory region 9164 Neighboring gene OCT4 hESC enhancer GRCh37_chr9:5482138-5482639 Neighboring gene CD274 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28165 Neighboring gene Sharpr-MPRA regulatory region 6415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:5501887-5502388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28170 Neighboring gene programmed cell death 1 ligand 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:5629427-5629927 Neighboring gene RIC1 homolog, RAB6A GEF complex partner 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28176 Neighboring gene uncharacterized LOC124902115

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 within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 28166

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_085067.2 

    Range
    101..1321
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    5509079..5510299
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    5514196..5515416
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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