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LOC126861417 MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 [ Homo sapiens (human) ]

Gene ID: 126861417, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861417
Gene description
MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309
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 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. [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 (2519944..2521143)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (2521053..2523170)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 C Neighboring gene CACNA1C antisense RNA 4 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:2364607-2365108 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:2365109-2365608 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2379570-2379768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2382663-2383258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2383259-2383852 Neighboring gene CACNA1C intronic transcript 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2446628-2447128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2456839-2457346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2460511-2461011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2462368-2462964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2462965-2463559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2485885-2486488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2486489-2487090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2518831-2519593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2524749-2525248 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2534057-2534597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2601921-2602422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2602423-2602923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2616670-2617170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2617171-2617671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2642317-2642824 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:2660049-2661248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2664536-2665036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2720576-2721076 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2721501-2721653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2736099-2736770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2736771-2737440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2747711-2748212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2760867-2761740 Neighboring gene CACNA1C antisense RNA 2 Neighboring gene ribosomal protein S6 pseudogene 18

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_085916.1 

    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
    2519944..2521143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654718.1 Reference GRCh38.p14 PATCHES

    Range
    868060..869259
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    2521053..2523170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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