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LOC126806453 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:192428730-192429929 [ Homo sapiens (human) ]

Gene ID: 126806453, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806453
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:192428730-192429929
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 LOC126806453 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191564004..191565203)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (192052891..192054090)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (192428730..192429929)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene myosin IB Neighboring gene Sharpr-MPRA regulatory region 10229 Neighboring gene RNA, U6 small nuclear 1045, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192310324-192310491 Neighboring gene NANOG hESC enhancer GRCh37_chr2:192320787-192321298 Neighboring gene NANOG hESC enhancer GRCh37_chr2:192343668-192344568 Neighboring gene uncharacterized LOC107985833 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192406286-192406448 Neighboring gene Sharpr-MPRA regulatory region 3391 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5925 Neighboring gene uncharacterized LOC124905959 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192510916-192511055 Neighboring gene Sharpr-MPRA regulatory region 14503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16883 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:192542703-192543205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12197 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:192544033-192545232 Neighboring gene nucleic acid binding protein 1

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_082773.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    191564004..191565203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    192052891..192054090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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