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LOC126861540 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:57673563-57674762 [ Homo sapiens (human) ]

Gene ID: 126861540, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861540
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:57673563-57674762
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 (57279780..57280979)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57248027..57249228)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57631624-57632226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57633295-57634200 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr12:57636011-57636914 Neighboring gene NDUFA4 mitochondrial complex associated like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6534 Neighboring gene serine hydroxymethyltransferase 2 Neighboring gene SH3 and cysteine rich domain 3 Neighboring gene Sharpr-MPRA regulatory region 5413 Neighboring gene R3H domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 11351 Neighboring gene Sharpr-MPRA regulatory region 7317 Neighboring gene MPRA-validated peak1746 silencer Neighboring gene RNA, U6 small nuclear 879, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4580 Neighboring gene R3HDM2 divergent transcript

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_086039.1 

    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
    57279780..57280979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57248027..57249228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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