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LOC126653394 MED14-independent group 3 enhancer GRCh37_chr21:44784578-44785777 [ Homo sapiens (human) ]

Gene ID: 126653394, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126653394
Gene description
MED14-independent group 3 enhancer GRCh37_chr21:44784578-44785777
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, Aug 2022]
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Genomic context

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Location:
chromosome: 21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43364698..43365897)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41719940..41721139)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 322 Neighboring gene putative uncharacterized protein encoded by LINC00322 Neighboring gene MPRA-validated peak4418 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44748650-44749536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44752021-44752551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44752552-44753081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44770223-44770882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44779591-44780148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44780149-44780705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18542 Neighboring gene long intergenic non-protein coding RNA 1679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44783485-44784024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44786021-44786699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44786700-44787379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44788731-44789288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44789289-44789846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44793172-44793672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44794790-44795323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44805422-44806000 Neighboring gene MPRA-validated peak4419 silencer Neighboring gene long intergenic non-protein coding RNA 3039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44817000-44817548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44817549-44818097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44818515-44819191 Neighboring gene uncharacterized LOC124905028

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_081887.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    43364698..43365897
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    41719940..41721139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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