Experiment / E4C2OZW6XIntegrated lentiMPRA

Allelic variant lentiMPRA in primary human mid-gestation cortical cells

Massively parallel characterization of regulatory elements in the developing human cortex

A 270-bp variant library centered on brain QTLs and psychiatric-disorder-associated variants was tested in GW18 primary human cortical cells with reference and alternative alleles. Allelic enhancer activity is represented by the alternative/reference RNA/DNA ratio and limma differential-activity statistics.

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

Basal / Untreated; GW18 primary human cortical cells

The variant library used 270-bp inserts centered on each variant, a 31-bp minimal promoter, and a 15-bp random barcode in a lentiviral reporter. Reference and alternative alleles were assayed after genomic integration; allele-specific activity is reported as the alternative/reference RNA/DNA ratio, with limma logFC, P value, and adjusted P value supplied by the source analysis.

Processed data

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

Visible columns (35 of 35)
Row
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50

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

Column dictionary · 35 definitions
variant_id
Variant rsID from the source library.
variant_chromosome
Chromosome of the variant in GRCh38.
variant_position
GRCh38 position of the variant.
insert_id
Source identifier for the 270-bp reporter insert containing the variant.
insert_start
Source start coordinate of the reporter insert.
insert_end
Source end coordinate of the reporter insert.
insert_length_bp
Derived insert length in base pairs, calculated as insert_end minus insert_start.
alt_ref_ratio
Source alternative-allele activity divided by reference-allele activity.
log2_alt_ref_ratio
Derived base-2 logarithm of alt_ref_ratio.
alt_activity_rna_dna_ratio
Source CPM-normalized RNA/DNA activity for the alternative allele.
ref_activity_rna_dna_ratio
Source CPM-normalized RNA/DNA activity for the reference allele.
alt_is_active
Source active/inactive call for the alternative allele.
ref_is_active
Source active/inactive call for the reference allele.
limma_logFC
Source limma log2 fold-change for the alternative allele relative to the reference allele.
limma_p_value
Source limma nominal P value for the allelic activity test.
limma_adjusted_p_value
Source multiple-testing-adjusted limma P value.
effect_direction
Derived direction of the limma effect: increased, decreased, or no_effect.
reported_da_1pct
Derived 1% FDR differential-activity flag: adjusted P <0.01 and absolute limma logFC >0.5.
reported_da_10pct
Derived 10% FDR differential-activity flag: adjusted P <0.10 and absolute limma logFC >0.5.
atac_cell_types
Semicolon-separated cell types whose ATAC-seq annotations overlap the variant insert.
da_cell_types
Semicolon-separated cell types whose differentially accessible annotations overlap the variant insert.
qtl_sources
Semicolon-separated QTL datasets in which the variant or linked variant is annotated.
gwas_ld_traits
Semicolon-separated psychiatric or neurological GWAS traits linked by LD in the source annotations.
closest_cross_disorder_gene
Closest cross-disorder differentially expressed gene name from the source annotation.
closest_cross_disorder_distance_bp
Distance in base pairs to the closest cross-disorder differentially expressed gene.
qtl_target_id
Source identifier of a predicted QTL target gene.
qtl_target_name
Source name of a predicted QTL target gene.
qtl_target_tpm_mean
Source mean TPM expression for the predicted QTL target gene.
loop_target_genes
Unique promoter target genes aggregated from source chromatin-loop annotations.
abc_target_genes
Unique target gene names from Activity-by-Contact annotations.
motifbreakr_gene
Transcription-factor gene whose motif is predicted to be altered by the allele, from motifbreakR.
motifbreakr_effect_size
Source motifbreakR effect-size annotation.
motifbreakr_effect
Source motifbreakR qualitative effect annotation.
qtl_conservation
Source conservation score for the variant/QTL annotation.
insert_conservation_mean
Source mean evolutionary conservation score for the full reporter insert.

Quality control

The supplemental methods required merged reads with a 270M CIGAR, base quality >=30, barcode Shannon entropy >0.5, barcode observation >=3 times with >=90% assignment to the same insert, >=10 unique barcodes per insert, and >=40 total DNA barcodes. DNA/RNA counts were CPM-normalized; variant activity was computed from alternative and reference RNA/DNA ratios, and allelic effects were tested with limma including batch terms. Data S2 contains 15,911 primary variant rows; 15,335 rows with finite alternative/reference activity and limma statistics were retained, while 576 rows missing one or more required numeric values were excluded. The processed reported_da flags use adjusted P <0.01 or <0.10 and absolute limma logFC >0.5; this reproducibly gives 132 primary variants at 1% FDR and 163 at 10% FDR, consistent with the reported directional totals.

Curation notes

This table contains the QC-passed allelic reporter results, not the upstream GWAS/QTL candidate list. The biosample is represented at the cerebral-cortex tissue level because the primary assay contains mixed cortical cell types. Source rows lacking finite allele activities or limma statistics were excluded. The paper describes a fold-change cutoff in prose; the supplied source logFC and the reported primary-cell counts are reproduced with absolute limma logFC >0.5, so that explicit reproducible rule is used for reported_da_1pct and reported_da_10pct.

Cite OpenMPRA

Cite the OpenMPRA database. Include your access date because the collection changes over time.

Please also cite the source studies when using their data.