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LOC126860783 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135229958-135231157 [ Homo sapiens (human) ]

Gene ID: 126860783, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860783
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135229958-135231157
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 (MPRA). 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 histone modification were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. This locus also includes two accessible chromatin subregions that were validated as silencers based on their 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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See LOC126860783 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132354250..132355770)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (144568724..144570242)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135004636-135005136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135005137-135005637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135011939-135012452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135029860-135030360 Neighboring gene uncharacterized LOC124902291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135044919-135045676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135045677-135046434 Neighboring gene Sharpr-MPRA regulatory region 1592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135061794-135062407 Neighboring gene netrin G2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135082729-135083404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135083405-135084080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135089048-135089792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135115111-135115628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135120407-135120912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135120913-135121418 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:135144739-135145938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135171222-135171722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135171723-135172223 Neighboring gene senataxin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29217 Neighboring gene Sharpr-MPRA regulatory region 6614 Neighboring gene uncharacterized LOC124902292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29219 Neighboring gene uncharacterized LOC105376304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20431 Neighboring gene transcription termination factor 1 Neighboring gene cilia and flagella associated protein 77

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
  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

  • ATAC-STARR-seq lymphoblastoid silent region 20429
  • ATAC-STARR-seq lymphoblastoid silent region 20430
  • H3K27ac hESC enhancer GRCh37_chr9:135229637-135230138
  • H3K27ac hESC enhancer GRCh37_chr9:135230139-135230638

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_085282.2 

    Range
    101..1621
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    132354250..132355770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    144568724..144570242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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