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LOC126806918 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194167532-194168731 [ Homo sapiens (human) ]

Gene ID: 126806918, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806918
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194167532-194168731
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: 3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194446803..194448002)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197145316..197146515)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194089931-194090895 Neighboring gene leucine rich repeat containing 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194120825-194121378 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194121379-194121931 Neighboring gene ATPase 13A3 Neighboring gene glycoprotein V platelet Neighboring gene MPRA-validated peak4979 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194170227-194171426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21024 Neighboring gene ATP13A3 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21026 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194218672-194219871 Neighboring gene Sharpr-MPRA regulatory region 12272 Neighboring gene RNA, U6 small nuclear 1101, pseudogene

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_083239.1 

    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    194446803..194448002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    197145316..197146515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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