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LOC126860486 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123705641-123706840 [ Homo sapiens (human) ]

Gene ID: 126860486, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860486
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123705641-123706840
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. 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 associates with the NANOG transcription factor and is marked by the H3K27ac histone modification. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (122693402..122694922)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (123824599..123826119)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene smooth muscle induced lncRNA, enhancer of proliferation Neighboring gene uncharacterized LOC107986972 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:123501108-123501994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19485 Neighboring gene Sharpr-MPRA regulatory region 11925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27851 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 1583 Neighboring gene long intergenic non-protein coding RNA 1151 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:123701812-123703011 Neighboring gene uncharacterized LOC107986904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27852 Neighboring gene Sharpr-MPRA regulatory region 2746 Neighboring gene hESC enhancers GRCh37_chr8:123770608-123771162 and GRCh37_chr8:123771163-123771718 Neighboring gene cyclin dependent kinase 5 pseudogene 1

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. 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

  • NANOG-H3K27ac hESC enhancer GRCh37_chr8:123706661-123707161

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_084986.2 

    Range
    101..1621
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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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    122693402..122694922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    123824599..123826119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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