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LOC126806249 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:72057331-72058530 [ Homo sapiens (human) ]

Gene ID: 126806249, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806249
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:72057331-72058530
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: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (71830201..71831400)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (71842944..71844143)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71680549-71681398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71681399-71682247 Neighboring gene VISTA enhancer hs2170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71727399-71728077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71730437-71730936 Neighboring gene Sharpr-MPRA regulatory region 7639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71733683-71734184 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71734185-71734684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71739143-71739642 Neighboring gene dysferlin Neighboring gene NANOG hESC enhancer GRCh37_chr2:71754884-71755402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71779877-71780378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71780379-71780878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71787253-71787780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71813506-71814014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71814015-71814523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71815560-71816140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71821207-71821706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71825151-71825652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71825653-71826152 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:71829831-71831030 Neighboring gene VISTA enhancer hs1479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71920591-71921090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71921091-71922090 Neighboring gene uncharacterized LOC124907827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72018477-72019464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72021448-72022059 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72070213-72070395 Neighboring gene Sharpr-MPRA regulatory region 1897 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:72107588-72108787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72120471-72120972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72120973-72121472 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72124986-72125167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72157000-72157500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72159067-72159946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72237860-72238360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72238361-72238861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72239996-72240496 Neighboring gene uncharacterized LOC105374798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72240497-72240997 Neighboring gene ribosomal protein S20 pseudogene 10 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:72248010-72248658 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:72248659-72249307 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:72258545-72259744

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_082573.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    71830201..71831400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    71842944..71844143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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