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LOC108178988 OSBP2 intron CAGE-defined high expression enhancer [ Homo sapiens (human) ]

Gene ID: 108178988, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108178988
Gene description
OSBP2 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 OSBP2 (oxysterol binding protein 2) 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. [provided by RefSeq, Jun 2016]
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Genomic context

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Location:
22q12.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30822929..30823493)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31286537..31287101)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31218916..31219480)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member E4 Neighboring gene ribosomal protein L13a pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18842 Neighboring gene dual specificity phosphatase 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13616 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:31112835-31114034 Neighboring gene oxysterol binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18844 Neighboring gene microRNA 3200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31168653-31169152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31175847-31176347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13619 Neighboring gene Sharpr-MPRA regulatory region 14933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31206089-31206590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31217603-31218510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18845 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:31225743-31226942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31259058-31259558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31259559-31260059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31264006-31264542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31264543-31265078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31268713-31269213 Neighboring gene uncharacterized LOC105372994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31273667-31274409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31274410-31275151 Neighboring gene origin of replication in OSBP2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:31281999-31282696 Neighboring gene uncharacterized LOC107985544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31288977-31289552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31289553-31290128 Neighboring gene eukaryotic translation initiation factor 4H pseudogene 2

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

  • OSBP2 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_050936.1 

    Range
    101..665
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    30822929..30823493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    31286537..31287101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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