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LOC108348020 PLEKHG1 intron CAGE-defined B cell enhancer [ Homo sapiens (human) ]

Gene ID: 108348020, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108348020
Gene description
PLEKHG1 intron CAGE-defined B cell enhancer
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 element is located in an intron of the PLEKHG1 (pleckstrin homology and RhoGEF domain containing G1) gene. It was defined as a tissue-specific transcribed enhancer based on the co-occurrence of H3K4me1, H3K27ac and DNase hypersensitive epigenetic marks with the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE) in B cells. It was validated as a functional enhancer by reporter assays in DAUDI B cells, and it also had some enhancer activity in Jurkat T cells. [provided by RefSeq, Jul 2016]
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Genomic context

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Location:
6q25.1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (150622678..150623707)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (151823197..151824226)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150943814..150944843)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene alpha-methylacyl-CoA racemase pseudogene Neighboring gene uncharacterized LOC124901429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17677 Neighboring gene Sharpr-MPRA regulatory region 13910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17679 Neighboring gene pleckstrin homology and RhoGEF domain containing G1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151037941-151038716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151038717-151039492 Neighboring gene uncharacterized LOC124901430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151063128-151063628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151063629-151064129 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:151074197-151074698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25278 Neighboring gene PDCL3 pseudogene 5

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

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

  • PLEKHG1 intron FANTOM5 blood 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_051172.1 

    Range
    101..1130
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    150622678..150623707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    151823197..151824226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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