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LOC126862832 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:77330216-77331415 [ Homo sapiens (human) ]

Gene ID: 126862832, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862832
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:77330216-77331415
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 was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors in HCT116 colorectal carcinoma cells, with strong dependence on CDK7. Two subregions marked by the H3K4me1 histone modification were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (79570216..79571415)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (79826075..79827274)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene nuclear factor of activated T cells 1 Neighboring gene uncharacterized LOC107985162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77230027-77230530 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13544 Neighboring gene uncharacterized LOC102723506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77336029-77336528 Neighboring gene uncharacterized LOC124904335 Neighboring gene uncharacterized LOC284240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77350417-77351256 Neighboring gene CRISPR/Cas9-targeted silencer 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77358253-77359146 Neighboring gene uncharacterized LOC105372228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77371029-77371622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77371623-77372215

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

  • H3K4me1 hESC enhancer GRCh37_chr18:77330274-77330830
  • H3K4me1 hESC enhancer GRCh37_chr18:77330831-77331386

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_087329.1 

    Range
    101..1300
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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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    79570216..79571415
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187617.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    7095..8294
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    79826075..79827274
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Molecular Biology Databases