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LOC126861413 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:1224566-1225765 [ Homo sapiens (human) ]

Gene ID: 126861413, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861413
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:1224566-1225765
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: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (1115400..1116599)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (1109316..1110515)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5791 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:917646-918146 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:918147-918647 Neighboring gene WNK lysine deficient protein kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5792 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:1023012-1024211 Neighboring gene uncharacterized LOC124902855 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1058032-1058690 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1058691-1059349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1067429-1067930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1067931-1068430 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:1083331-1083878 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:1092618-1092819 Neighboring gene RAD52 homolog, DNA repair protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:1099220-1099782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:1100344-1100905 Neighboring gene Sharpr-MPRA regulatory region 6010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1115216-1115716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1115717-1116217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1181067-1181567 Neighboring gene ELKS/RAB6-interacting/CAST family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5795 Neighboring gene uncharacterized LOC124902857 Neighboring gene 5-hydroxytryptamine receptor 1D pseudogene 1 Neighboring gene uncharacterized LOC124902854

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_085912.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    1115400..1116599
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_013171809.1 Reference GRCh38.p14 PATCHES

    Range
    88799..89998
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    1109316..1110515
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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