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LOC126861441 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:8375857-8377056 [ Homo sapiens (human) ]

Gene ID: 126861441, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126861441
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:8375857-8377056
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 LOC126861441 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8223261..8224460)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8237340..8238539)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8375857..8377056)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 705A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8333169-8333668 Neighboring gene family with sequence similarity 66 member C Neighboring gene defensin beta 109F (pseudogene) Neighboring gene family with sequence similarity 90 member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5931 Neighboring gene ALG1 like 10, pseudogene Neighboring gene family with sequence similarity 86, member A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8390159-8390659 Neighboring gene long intergenic non-protein coding RNA 2449

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

See Variation Viewer (GRCh37.p13)

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_085940.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    8223261..8224460
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8237340..8238539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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