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LOC126805750 MED14-independent group 3 enhancer GRCh37_chr1:66866019-66867218 [ Homo sapiens (human) ]

Gene ID: 126805750, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126805750
Gene description
MED14-independent group 3 enhancer GRCh37_chr1:66866019-66867218
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 (MPRA) in HCT116 colorectal carcinoma cells, where it 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. This locus also includes three accessible chromatin subregions that were validated as enhancers based on their ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC126805750 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (66400336..66401535)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (66277783..66279055)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 4B Neighboring gene PDE4B antisense RNA 1 Neighboring gene RNA, U4 small nuclear 88, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:66694092-66694275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1152 Neighboring gene Sharpr-MPRA regulatory region 6178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1155 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:66820269-66820769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1160 Neighboring gene uncharacterized LOC105378776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66946325-66946955 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66946956-66947585 Neighboring gene uncharacterized LOC124904196 Neighboring gene SH3GL interacting endocytic adaptor 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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 1161
  • ATAC-STARR-seq lymphoblastoid active region 1162
  • ATAC-STARR-seq lymphoblastoid active region 1163

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_082074.1 

    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
    66400336..66401535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    66277783..66279055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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