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LOC126861472 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:17535474-17536673 [ Homo sapiens (human) ]

Gene ID: 126861472, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861472
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:17535474-17536673
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. [provided by RefSeq, Sep 2022]
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Genomic context

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Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (17382540..17383739)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (17258775..17259974)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 837, pseudogene Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17286714 Neighboring gene ribosomal protein L7 pseudogene 40 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17310310 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17311674 Neighboring gene VISTA enhancer hs993 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:17327941 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:17485772-17486971 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26385 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 8 Neighboring gene translocase of inner mitochondrial membrane 17B pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26433 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26470 Neighboring gene VISTA enhancer hs605 Neighboring gene long intergenic non-protein coding RNA 2378

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

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_085971.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    17382540..17383739
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    17258775..17259974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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