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LOC126806519 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220469784-220470983 [ Homo sapiens (human) ]

Gene ID: 126806519, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806519
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220469784-220470983
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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See LOC126806519 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219605062..219606261)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (220089792..220090991)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220441287-220441862 Neighboring gene inhibin subunit alpha Neighboring gene RN7SK pseudogene 213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17156 Neighboring gene serine/threonine kinase 11 interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220472989-220473488 Neighboring gene uncharacterized LOC124908064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220492855-220493557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220493558-220494259 Neighboring gene solute carrier family 4 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220508228-220508999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220509771-220510541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220510542-220511311 Neighboring gene CRISPRi-validated cis-regulatory element chr2.6714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220528008-220528541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220537307-220537807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:220548733-220549932 Neighboring gene DNAJB6 pseudogene 3

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_082839.1 

    Range
    101..1300
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    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
    219605062..219606261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    220089792..220090991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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