U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC126805699 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36929292-36930491 [ Homo sapiens (human) ]

Gene ID: 126805699, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC126805699
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36929292-36930491
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). 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 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]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC126805699 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36463392..36465197)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (36326249..36328077)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36886839-36887338 Neighboring gene small nucleolar RNA, H/ACA box 63C Neighboring gene uncharacterized LOC107984940 Neighboring gene organic solute carrier partner 1 Neighboring gene Sharpr-MPRA regulatory region 11440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 669 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36931829-36932691 Neighboring gene mitochondrial ribosomal protein S15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36946417-36947202 Neighboring gene colony stimulating factor 3 receptor Neighboring gene Sharpr-MPRA regulatory region 4345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 757 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:36989208-36989708 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:36989709-36990209 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36999986-37000486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:37000487-37000987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 759 Neighboring gene Sharpr-MPRA regulatory region 1123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:37054575-37055075 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7558 Neighboring gene ferritin light chain pseudogene 18

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

General gene information

Go to the top of the page Help

Other Names

  • ATAC-STARR-seq lymphoblastoid active region 755
  • H3K27ac hESC enhancer GRCh37_chr1:36928993-36929896
  • H3K27ac hESC enhancer GRCh37_chr1:36929897-36930798

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_082023.2 

    Range
    101..1906
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    36463392..36465197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    36326249..36328077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases