Experiment / E9HFKD5G1Episomal Plasmid MPRA

MIN6 episomal MPRA under DMSO vehicle control

Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation

The library tested 200-bp human genomic sequences centered on 6,621 candidate SNPs/indels, with reference and alternate alleles represented by barcoded GFP reporter constructs. This arm used MIN6 mouse β cells exposed to 0.025% DMSO vehicle for 24 hours after transfection, with five paired biological replicates and plasmid-DNA/RNA barcode readout.

Processed tables are specific to each experiment. Column names, units, measurements, and table structure are not standardized across the database. Check this experiment’s column definitions and quality-control notes before comparing or combining data.

Perturbation & assay details

0.025% DMSO vehicle control for 24 h

Each 200-bp human sequence was cloned upstream of a minimal TATA promoter driving GFP, and each construct carried a unique 20-bp barcode in the GFP 3′ UTR. The episomal plasmid library was transfected into MIN6 mouse β cells with Lipofectamine 2000; plasmid-DNA input and captured GFP-mRNA barcode counts were sequenced, with MPRA activity reported as log2 RNA/DNA. The DMSO arm used the second library batch and five paired biological replicates; GEO provides separate DMSO/Tg count matrices for Run1 and Run2, while this table uses the authors' consolidated SNP-level results.

Processed data

50 rows per page. Click a cell to inspect its full value.

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Filters apply to this table only. The CSV download contains the complete processed table; filtered rows are available through the API.

Column dictionary · 43 definitions
variant_id
dbSNP identifier for the tested SNP or indel.
chromosome
Human chromosome in the hg19 assembly.
position_hg19
1-based hg19 coordinate of the tested variant.
ref_allele
Reference allele used in the reporter construct; indel alleles may contain multiple bases.
alt_allele
Alternate allele used in the reporter construct; indel alleles may contain multiple bases.
maf_african
Minor-allele frequency in the African population.
maf_american
Minor-allele frequency in the American population.
maf_asian
Minor-allele frequency in the Asian population.
maf_european
Minor-allele frequency in the European population.
caqtl
Binary flag indicating an islet chromatin-accessibility QTL SNP.
not_caqtl
Binary flag indicating an islet ATAC-seq control SNP that was not a caQTL.
t2d_associated
Binary flag indicating membership in the T2D-associated SNP/indel set.
islet_atac_peak
Binary flag for overlap with a human islet ATAC-seq peak.
islet_pdx1_peak
Binary flag for overlap with a human islet PDX1 ChIP-seq peak.
islet_foxa2_peak
Binary flag for overlap with a human islet FOXA2 ChIP-seq peak.
islet_h2az_peak
Binary flag for overlap with a human islet H2A.Z ChIP-seq peak.
islet_h3k27ac_peak
Binary flag for overlap with a human islet H3K27ac ChIP-seq peak.
islet_mafb_peak
Binary flag for overlap with a human islet MAFB ChIP-seq peak.
islet_nkx61_peak
Binary flag for overlap with a human islet NKX6.1 ChIP-seq peak.
islet_ctcf_peak
Binary flag for overlap with a human islet CTCF ChIP-seq peak.
overlaps_line
Binary flag for overlap with a RepeatMasker LINE element.
overlaps_ltr
Binary flag for overlap with a RepeatMasker LTR element.
overlaps_sine
Binary flag for overlap with a RepeatMasker SINE element.
overlaps_satellite
Binary flag for overlap with a satellite repeat.
overlaps_simple_repeat
Binary flag for overlap with a simple repeat.
higher_activity_allele
Allele reported as significantly higher in the reference-versus-alternate comparison; blank when not significant or not reported.
ref_plasmid_representation_mean
Author median-normalized mean plasmid-DNA representation for the reference allele.
ref_activity_log2_rna_dna
Reference-allele log2 fold change of RNA barcode counts versus plasmid-DNA input.
ref_activity_pvalue
Reference-allele p-value for the RNA-versus-plasmid activity test.
ref_activity_padj
Reference-allele multiple-testing-adjusted activity p-value.
ref_enhancer_call
Reference-allele MPRA activity call: 1 = active at FDR < 1%, 0 = not active.
alt_plasmid_representation_mean
Author median-normalized mean plasmid-DNA representation for the alternate allele.
alt_activity_log2_rna_dna
Alternate-allele log2 fold change of RNA barcode counts versus plasmid-DNA input.
alt_activity_pvalue
Alternate-allele p-value for the RNA-versus-plasmid activity test.
alt_activity_padj
Alternate-allele multiple-testing-adjusted activity p-value.
alt_enhancer_call
Alternate-allele MPRA activity call: 1 = active at FDR < 1%, 0 = not active.
active_allele_count
Number of the two tested alleles with an MPRA activity call of 1.
allelic_effect_log2_alt_over_ref
Author log2 fold change of alternate-versus-reference MPRA activity.
allelic_effect_t_statistic
Paired t-statistic for the alternate-versus-reference log-transformed RNA/DNA comparison.
allelic_effect_pvalue
P-value for the paired alternate-versus-reference allelic comparison.
allelic_effect_fdr
FDR for the allelic comparison; blank when the source used -1 to indicate not tested.
allelic_effect_tested
1 when an allelic-skew test was reported, 0 when it was not tested.
allelic_effect_significant_fdr_10pct
Allelic-skew call: 1 = FDR < 10%, 0 = tested but not significant, blank = not tested.

Quality control

The authors discarded barcodes mapping to more than one sequence, summed barcode counts within replicates, median-normalized the counts, called sequence activity with a DESeq2 negative-binomial model at FDR < 1%, and tested reference-versus-alternate allelic skew with paired t-tests at FDR < 10%. Supplementary Figure 1 reports strong replicate correlation and PCA separation of RNA from plasmid input. For this package, 6,487 of 6,621 SNP rows were retained because both alleles had numeric plasmid representation, activity p-value/padj, and enhancer-call fields in the source table; 134 rows with no condition-level values were excluded. Non-significant measured variants remain as valid negative results; source -1 allelic-skew sentinels are represented by blank FDR with allelic_effect_tested = 0.

Curation notes

The human inserts were assayed in mouse MIN6 cells (Cellosaurus CVCL:0431); hg19 coordinates and human islet annotations are retained as reported. This DMSO vehicle arm is paired with the thapsigargin arm in the second library batch; the paper does not directly compare this batch with the separate standard-culture batch. The table is a SNP-level extraction of Supplementary Data 3 (MOESM5); both GEO DMSO/Tg count matrices and the oligo/probe FASTA are retained in raw_data.

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