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LOC126806581 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240667929-240669128 [ Homo sapiens (human) ]

Gene ID: 126806581, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806581
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240667929-240669128
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 primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (239746235..239748057)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240238878..240240700)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2991 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240565957-240566484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240566485-240567010 Neighboring gene uncharacterized LOC105373966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240582179-240582678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240644837-240645402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240645403-240645968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240671487-240672397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240674643-240675212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240678616-240679552 Neighboring gene uncharacterized LOC150935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240739699-240740285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240741003-240741503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240753063-240753578 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:240835310-240835810 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:240835811-240836311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240842953-240843860 Neighboring gene NADH:ubiquinone oxidoreductase subunit A10 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:240868321-240868542 Neighboring gene microRNA 4786

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_chr2:240669027-240669751

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_082901.2 

    Range
    101..1923
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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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    239746235..239748057
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332689.1 Reference GRCh38.p14 PATCHES

    Range
    49332..51154
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    240238878..240240700
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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