U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC112577511 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:169082217-169083416 [ Homo sapiens (human) ]

Gene ID: 112577511, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC112577511
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:169082217-169083416
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. A subregion was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay 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. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). The same subregion also displayed weak repressive activity in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 6:EnhF, candidate strong enhancer, flanking open chromatin). Another subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169112979..169114573)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (168468460..168470054)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169082869..169083163)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 970 Neighboring gene RNA, 5S ribosomal pseudogene 66 Neighboring gene uncharacterized LOC101928596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169074345-169074918 Neighboring gene Sharpr-MPRA regulatory region 5967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169076065-169076637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169085415-169086034 Neighboring gene ATPase Na+/K+ transporting subunit beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2070 Neighboring gene NME/NM23 family member 7 Neighboring gene NANOG hESC enhancer GRCh37_chr1:169185155-169185723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169225944-169226549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169226550-169227154 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:169336872-169338071 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169083169-169083811
  • Sharpr-MPRA regulatory region 11596

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_060227.3 

    Range
    101..1695
    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
    169112979..169114573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    168468460..168470054
    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