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LOC126807283 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:618691-619890 [ Homo sapiens (human) ]

Gene ID: 126807283, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807283
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:618691-619890
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: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (618576..619775)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (616626..617825)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:570939-571526 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86692/86693 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86701 Neighboring gene uncharacterized LOC105374608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:602876-603376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:603377-603877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:611378-612308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:612309-613238 Neighboring gene CEP72 divergent transcript Neighboring gene centrosomal protein 72 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86736 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643172-643672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643673-644173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86745 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86749/86750 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86753 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86779 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86783 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:669166-669920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86803 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:673521-674090 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86819 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_86823 and experimental_86827 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86831 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86835 Neighboring gene tubulin polymerization promoting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86841/86842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:686929-687430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:692893-693475 Neighboring gene uncharacterized LOC101929898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:694389-695267 Neighboring gene NANOG hESC enhancer GRCh37_chr5:708729-709282 Neighboring gene zinc finger DHHC-type containing 11B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:727349-727849 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:752062-752252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:753615-754114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:758511-759354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:759355-760198 Neighboring gene bromodomain containing 9 pseudogene 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. 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_083604.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    618576..619775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187550.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    7122..8321 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    616626..617825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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