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LOC108192211 MGLL intron CAGE-defined high expression enhancer [ Homo sapiens (human) ]

Gene ID: 108192211, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108192211
Gene description
MGLL intron CAGE-defined high expression enhancer
Gene type
biological region
Feature type(s)
misc_feature: CAGE_cluster
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 is located in an intron of the MGLL (monoglyceride lipase) gene. It was defined as a high expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in HeLa cells. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its 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) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
3q21.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (127746653..127747164)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (130481217..130481728)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127465496..127466007)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127357688-127358188 Neighboring gene podocalyxin like 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127386638-127386819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127401604-127402139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127408045-127408550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127408551-127409056 Neighboring gene ankyrin repeat and BTB domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127420713-127421460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127421461-127422206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127425278-127425778 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127425995-127426138 Neighboring gene monoglyceride lipase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127452841-127453756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127456818-127457380 Neighboring gene uncharacterized LOC107986127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20464 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:127472805-127474004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127509215-127509818 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:127509819-127510421 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:127536190-127537389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14697 Neighboring gene uncharacterized LOC107986129 Neighboring gene uncharacterized LOC105374096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20475 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127616018-127616222 Neighboring gene uncharacterized LOC124909427

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. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 20462
  • MGLL intron high CAGE FANTOM5 enhancer

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_050961.1 

    Range
    101..612
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    127746653..127747164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    130481217..130481728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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