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LOC126805581 MED14-independent group 3 enhancer GRCh37_chr1:2481723-2482922 [ Homo sapiens (human) ]

Gene ID: 126805581, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126805581
Gene description
MED14-independent group 3 enhancer GRCh37_chr1:2481723-2482922
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: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2550284..2551483)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1991928..1993127)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pantothenate kinase 4 (inactive) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2454755-2455542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2458062-2458782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2459504-2460224 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:2460225-2460944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2461459-2461962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2463669-2464169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2465753-2466256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2466257-2466760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2466761-2467264 Neighboring gene hes family bHLH transcription factor 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2474412-2475282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2476154-2477024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2479637-2480506 Neighboring gene TNFRSF14 antisense RNA 1 Neighboring gene TNF receptor superfamily member 14 Neighboring gene uncharacterized LOC100996583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2498904-2499776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2508969-2509605

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_081906.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    2550284..2551483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    101474..102673
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    1991928..1993127
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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