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LOC126862414 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:80078510-80079709 [ Homo sapiens (human) ]

Gene ID: 126862414, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862414
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:80078510-80079709
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 in HCT116 colorectal carcinoma cells. This sequence 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 genetic variant at this locus, rs16952191, may be associated with coronavirus disease 2019 (COVID-19) susceptibility. [provided by RefSeq, Dec 2022]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
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Genomic context

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See LOC126862414 in Genome Data Viewer
Location:
chromosome: 16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (80044613..80045812)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (86105611..86106810)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371356 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:79804516-79804714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11161 Neighboring gene MAF transcriptional regulator RNA Neighboring gene long intergenic non-protein coding RNA 1229 Neighboring gene long intergenic non-protein coding RNA 1228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11164 Neighboring gene HNF4 motif-containing MPRA enhancer 204/205 Neighboring gene Sharpr-MPRA regulatory region 4834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11165 Neighboring gene NFE2L2 motif-containing MPRA enhancer 24 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:80006081-80006287 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:80060683-80061882 Neighboring gene uncharacterized LOC105371357 Neighboring gene uncharacterized LOC105371358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7739 Neighboring gene DYNLRB2 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:80231288-80232487 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:80255087-80255329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7740 Neighboring gene Sharpr-MPRA regulatory region 10203 Neighboring gene Sharpr-MPRA regulatory region 10573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:80351553-80352053 Neighboring gene VISTA enhancer hs4 Neighboring gene HNF1 motif-containing MPRA enhancer 101 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:80499762-80500344 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:80500345-80500926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11167 Neighboring gene dynein light chain roadblock-type 2

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. Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severity. Shelton JF, et al. Nat Genet, 2021 Jun. PMID 33888907
  2. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, 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

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_086912.1 

    Range
    101..1300
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    80044613..80045812
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    86105611..86106810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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