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LOC126807148 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123707239-123708438 [ Homo sapiens (human) ]

Gene ID: 126807148, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807148
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123707239-123708438
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 (MPRA). 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 naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. 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 LOC126807148 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122786084..122787481)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (126090182..126091579)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Bardet-Biedl syndrome 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21875 Neighboring gene centrin 4, pseudogene Neighboring gene DNA damage regulated autophagy modulator 1 pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr4.2649 Neighboring gene Sharpr-MPRA regulatory region 2230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:123705471-123706466 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:123709565-123710492 Neighboring gene Sharpr-MPRA regulatory region 4773 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:123719262-123720461 Neighboring gene FGF2 promoter region Neighboring gene ribosomal protein L34 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21877 Neighboring gene Sharpr-MPRA regulatory region 10032 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:123749417-123749942 Neighboring gene fibroblast growth factor 2 Neighboring gene ribosomal protein S26 pseudogene 23

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 active region 21876
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:123707709-123708636

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_083469.2 

    Range
    101..1498
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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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    122786084..122787481
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    126090182..126091579
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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