- Mar 2021
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 70; 0.08 µM: 50; 0.8 µM: 40; 8 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
-
Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 50; 0.08 µM: 35; 0.8 µM: 25; 8 µM: 10
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
-
Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 60; 0.08 µM: 55; 0.8 µM: 40; 8 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
Comment: This variant was used as an abnormal control in other assays in this publication, but it was not specifically designated as a control in this assay.
-
Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 65; 0.08 µM: 50; 0.8 µM: 30; 8 µM: 20
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
-
Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 50; 0.08 µM: 40; 0.8 µM: 20; 8 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
-
Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 90; 0.08 µM: 80; 0.8 µM: 75; 8 µM: 35
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
-
Viability assayPALB2 variants were introduced into B400 cells using mCherry-pOZC expression vector and flow cytometry for Cherry-red was performed to select for cells expressing PALB2. Sorted cells were plated in 96-well plates and exposed to increasing amounts of Olaparib or cisplatin and incubated for a period of 5 days. Presto Blue (Invitrogen) was added and incubated for 1–2 hours before measuring fluorescence intensity on a Cytation 3 microplate reader (BioTek).
AssayGeneralClass: BAO:0003009 cell viability assay
AssayMaterialUsed: CLO:0036938 tumor-derived cell line
AssayDescription: Transient expression of wild type and variant mCherry-tagged PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line; exposure to increasing concentrations of PARP inhibitor Olaparib for 5 days inhibits end-joining mediated by PARP and sensitizes cells to DNA damage; cell survival is determined by measuring fluorescence intensity after staining with a cell viability reagent.
AssayReadOutDescription: Percent cell survival after treatment with Olaparib
AssayRange: %
AssayNormalRange: Olaparib resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given
AssayAbnormalRange: Not reported
AssayIndeterminateRange: Not reported
ValidationControlPathogenic: 0
ValidationControlBenign: 0
Replication: Not reported
StatisticalAnalysisDescription: Not reported
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.58
Tags
- CAID:CA10580054
- CAID:CA923726356
- ClinVarID:187262
- Variant:3
- ClinVarID:21675
- ValidationControl:WildType
- Variant:92
- CAID:CA279502031
- HGNC:26144
- AssayRangeType:Quantitative
- CAID:CA164933
- Variant:4
- BAO:0003009
- Variant:56
- FuncAssay:3
- ClinVarID:230588
- CAID:CA197176
- CGType:FunctionalAssay
- CG:BulkAnnotation
- CGType:FunctionalAssayResult
- Variant:85
- ClinVarID:657328
- CAID:CA339433
- CLO:0036938
- ClinVarID:141256
- MONDO:0016419
- AssayControl:Normal
- Variant:42
- FuncAssay:1
- UO:0000187
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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CRISPR-LMNA HDR assayU2OS were seeded in 6-well plates at 200 000 cells per well. Knockdown of PALB2 was performed 6–8 h later with 50 nM siRNA using Lipofectamine RNAiMAX (Invitrogen). Twenty-four hours post-transfection, 1.5 × 106 cells were pelleted for each condition and resuspended in 100 μL complete nucleofector solution (SE Cell Line 4D-Nucleofector™ X Kit, Lonza) to which 1μg of pCR2.1-mRuby2LMNAdonor, 1 μg of pX330-LMNAgRNA2, 1 μg of the peYFP-C1 empty vector or the indicated siRNA-resistant YFP-PALB2 construct, and 150 ρmol siRNA was added. Once transferred to a 100 ul Lonza certified cuvette, cells were transfected using the 4D-Nucleofector X-unit, program CM-104, resuspended in culture media and split into 2 60-mm dishes. One dish was harvested 24 h later for protein expression analysis as described above while cells from the other were trypsinised after 48 h for plating onto glass coverslips. Coverslips were fixed with 4% paraformaldehyde and cells analyzed for expression of mRuby2-LMNA (indicative of successful HR) by fluorescence microscopy (63×) a total of 72 h post-nucleofection. Data are represented as mean relative percentages ± SD of mRuby2-positive cells over the YFP-positive population from 3 independent experiments (total n >300 YFP-positive cells per condition).
AssayGeneralClass: BAO:0003061 reporter protein
AssayMaterialUsed: CLO:0009454 U-2 OS cell
AssayDescription: U2OS cells were treated with PALB2 siRNA and synchronized to G1/S phase by double thymidine block. Cells were then co-transfected with peYFP-PALB2 expressing PALB2 variants (or empty vector), pCR2.1-mRuby2LMNAdonor, and pX330-LMNAgRNA, which generates mRuby2-Lamin A/C fusion if HDR is successful.
AssayReadOutDescription: Mean relative percentages of mRuby2-positive cells over the YFP-positive population relative to the wild type condition.
AssayRange: %
AssayNormalRange: Not reported
AssayAbnormalRange: <40%
AssayIndeterminateRange: 41%-77%
ValidationControlPathogenic: 1
ValidationControlBenign: 3
Replication: Three independent experiments, each with n > 300 YFP-positive cells per condition
StatisticalAnalysisDescription: One-way ANOVA followed by Dunnett's post hoc analysis
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SUPPLEMENTARY DATA
AssayResult: 5
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
ControlType: Abnormal; empty vector
-
SUPPLEMENTARY DATA
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
-
SUPPLEMENTARY DATA
AssayResult: 34
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 68
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 90
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 46
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 23.6
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 82
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 53
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 41
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 95
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 90
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 83
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 77
AssayResultAssertion: Indeterminate
PValue: < 0.01
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 81
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 38
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 5
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 36
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 85
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 58
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 86.74
AssayResultAssertion: Not reported
PValue: 0.1836
Comment: Exact values reported in Table S3.
Tags
- Variant:10
- ClinVarID:126774
- ClinVarID:657666
- CAID:CA186642
- Variant:14
- CAID:CA151242
- CAID:CA279502031
- Variant:41
- AssayRangeType:Quantitative
- ClinVarID:126758
- CAID:CA395139336
- ValidationControl:Benign
- CAID:CA288392
- CAID:CA299799
- Variant:31
- CAID:CA331796
- Variant:27
- Variant:1
- ClinVarID:126755
- ClinVarID:183828
- CG:BulkAnnotation
- CAID:CA299750
- Variant:22
- Variant:37
- ClinVarID:126652
- ClinVarID:126593
- BAO:0003061
- ClinVarID:182774
- MONDO:0016419
- AssayControl:Normal
- CAID:CA151236
- ClinVarID:126738
- CAID:CA269636
- FuncAssay:1
- ClinVarID:126782
- ClinVarID:241553
- Variant:18
- Variant:11
- ClinVarID:126682
- Variant:45
- CAID:CA288386
- ClinVarID:126669
- AssayControl:Abnormal
- Variant:32
- ValidationControl:WildType
- CAID:CA269654
- CAID:CA395144524
- Variant:3
- HGNC:26144
- ClinVarID:126699
- ValidationControl:Pathogenic
- CAID:CA161315
- Variant:38
- CLO:0009454
- ClinVarID:126716
- Variant:4
- FuncAssay:3
- Variant:24
- ClinVarID:232977
- Variant:15
- CGType:FunctionalAssay
- CAID:CA269666
- Variant:2
- CGType:FunctionalAssayResult
- ClinVarID:126590
- Variant:8
- ClinVarID:657328
- CAID:CA7963465
- CAID:CA10579934
- CAID:CA151233
- CAID:CA168501
- UO:0000187
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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analyzed several PALB2 variants in their response to the ICL-inducing agent cisplatin
AssayGeneralClass: BAO:0002805 cell proliferation assay
AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line
AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; exposure to cisplatin for 48 h induces interstrand-crosslink DNA damage; cell survival is measured by FACS 24 h after cisplatin washout
AssayReadOutDescription: Relative resistance to cisplatin represented as cell survival relative to wild type, which was set to 100%
AssayRange: %
AssayNormalRange: Cisplatin resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given
AssayAbnormalRange: Cisplatin resistance levels comparable to that of cells expressing empty vector; no numeric threshold given
AssayIndeterminateRange: Not reported
ValidationControlPathogenic: 2
ValidationControlBenign: 2
Replication: 2 independent experiments
StatisticalAnalysisDescription: Not reported
-
Source Data
AssayResult: 128.59
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 14.72
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 19.43
AssayResultAssertion: Abnormal
ReplicateCount: 5
StandardErrorMean: 4.42
ControlType: Abnormal; empty vector
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 100
AssayResultAssertion: Normal
ReplicateCount: 6
StandardErrorMean: 0
ControlType: Normal; wild type PALB2 cDNA
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 84.05
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 16.48
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 97.73
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 5.41
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 19.53
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 8.56
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 119.03
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.12
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 37.28
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.28
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 111.51
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.63
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 80.44
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 9.06
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 27.29
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.53
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.2
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 12.81
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 112.08
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 4.1
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 87.4
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.88
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 100.97
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.27
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 20.08
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.84
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 89.72
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.95
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 93.33
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 83.16
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.2
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 26.03
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.42
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 72.7
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardErrorMean: 9.73
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 97.61
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.97
StandardErrorMean: 0.68
Comment: Exact values reported in “Source Data” file.
Tags
- CAID:CA395141224
- ClinVarID:1245
- Variant:40
- CAID:CA279530867
- AssayRangeType:Quantitative
- ClinVarID:126758
- ValidationControl:Benign
- Variant:13
- ClinVarID:420826
- Variant:34
- Variant:7
- ClinVarID:182773
- ClinVarID:186824
- CAID:CA16620118
- FuncAssay:1
- AssayControl:Abnormal
- ClinVarID:126670
- CAID:CA151239
- HGNC:26144
- ClinVarID:1243
- ClinVarID:530038
- Variant:4
- FuncAssay:2
- ClinVarID:186840
- CAID:CA163622
- Variant:30
- ClinVarID:126749
- CAID:CA269551
- CGType:FunctionalAssayResult
- ClinVarID:126590
- CAID:CA151222
- ClinVarID:657328
- ClinVarID:126594
- CG:BulkAnnotation
- CAID:CA294407
- CAID:CA151242
- CAID:CA279502031
- ClinVarID:142468
- Variant:63
- Variant:62
- Variant:49
- CAID:CA299747
- BAO:0002805
- ClinVarID:922719
- Variant:28
- CAID:CA151250
- Variant:46
- MONDO:0016419
- AssayControl:Normal
- Variant:20
- Variant:65
- CAID:CA288386
- Variant:38
- Variant:3
- CLO:0037317
- ValidationControl:WildType
- CAID:CA196017
- ClinVarID:126699
- ValidationControl:Pathogenic
- CAID:CA161315
- CAID:CA195974
- Variant:5
- FuncAssay:3
- Variant:24
- CAID:CA395125757
- CAID:CA395139401
- CGType:FunctionalAssay
- Variant:2
- ClinVarID:126683
- Variant:48
- CAID:CA251717
- UO:0000187
Annotators
URL
-
-
www.cell.com www.cell.com
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 28.5
AssayResultAssertion: Abnormal
ReplicateCount: 21
StandardErrorMean: 7.6
Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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-
jmg.bmj.com jmg.bmj.com
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We then applied the p53 functional assay on blood samples sent to our laboratory for TP53 molecular analysis (NGS screening of the 11 exons complemented by QMPSF). Molecular and functional analyses were performed in parallel, in double blind conditions.
AssayGeneralClass: BAOCL:20:0010044 targeted transcriptional assay
AssayMaterialUsed: CL:2000001 peripheral blood mononuclear cell from patients
AssayDescription: Comparative transcriptomic analysis using reverse transcription to compare peripheral blood mononuclear cells of patients with wild type or pathogenic TP53 variants in the context of genotoxic stress induced by doxorubicin treatment. Ten biomarkers corresponding to p53 targets were measured to determine a functionality score.
AdditionalDocument: PMID: 23172776
AssayReadOutDescription: In the treated condition, the peak height of each of the 10 p53 target genes was measured and divided by the sum of the heights of the three control genes. This value was then divided by the same ratio calculated in the untreated condition. In the assay, the mean of the 10 values defines the p53 functionality score. The final p53 functionality score is the mean of the scores obtained in RT-MLPA and RT-QMPSF assays.
AssayRange: An arbitrary functionality score was calculated from the induction score of the 10 p53 targets.
AssayNormalRange: >7.5
AssayAbnormalRange: <5.5
AssayIndeterminateRange: Between 5.5 and 7.5 is associated with an intermediate effect.
AssayNormalControl: wild type TP53
AssayAbnormalControl: LFS patient cells
ValidationControlPathogenic: 8 individuals had seven distinct TP53 variants which could be considered as likely pathogenic or pathogenic based on their ClinVar classification or their truncating nature.
ValidationControlBenign: 51 individuals had no detectable germline TP53 variant
Replication: at least two wells were seeded per patient (treated and untreated) and duplicates or triplicates were performed whenever possible.
StatisticalAnalysisDescription: Differentially expressed genes between doxorubicin-treated and untreated cells were arbitrarily defined using, as filters, a P<0.01 and fold-change cutoffs >2 or <2, for up and down regulation, respectively. The resultant signal information was analyzed using one-way analysis of variance (ANOVA, P= 0.001), assuming normality but not equal variances with a Benjamani–Hochberg correction for multiple comparisons using three groups: controls, null, and missense mutations.
SignificanceThreshold: P=0.001
Comment: statistical analysis and P value from previous publication.
-
- Feb 2021
-
jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 8.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 6.4
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.
-
Supplemental material
AssayResult: 5.5, 5.7
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
-
Supplemental material
AssayResult: 20.5
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.4
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 2.6, 4.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).
-
Supplemental material
AssayResult: 4, 5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.8, 6.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.3
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 17.1
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.2
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 2.9
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 6.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.9
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.7
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 7.1, 6.0
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.2
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 16
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 16.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 19.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 9.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 9.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 17.2
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 19.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 17.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.2
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 18.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 11.7
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 9.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.9
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 13
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 15.4
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 13
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 22.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.6
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 16.5
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10.3
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 7.5
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 7.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 14.6
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10.6
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 8.9
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.1
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 10.6
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.5
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 58
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
Tags
- Variant:10
- CAID:CA000343
- Variant:23
- ClinVarID:127812
- CAID:CA000225
- ClinVarID:142320
- ClinVarID:127816
- CAID:CA10584593
- CAID:CA000123
- Variant:41
- CAID:CA000454
- Variant:36
- ValidationControl:Benign
- CAID:CA397842793
- CAID:CA397832401
- Variant:25
- CAID:CA497717451
- CAID:CA1139768485
- ClinVarID:127808
- Variant:1
- Variant:7
- Variant:26
- ClinVarID:246343
- Variant:46
- CAID:CA000049
- CAID:CA16603061
- CAID:CA1139768486
- CAID:CA000259
- AssayControl:Normal
- ClinVarID:185120
- Variant:35
- Variant:20
- Variant:16
- ClinVarID:12379
- FuncAssay:1
- Variant:17
- Variant:12
- Variant:18
- Variant:45
- CAID:CA397832246
- ClinVarID:12374
- ClinVarID:141114
- CAID:CA1139768484
- Variant:3
- ValidationControl:WildType
- CAID:CA000102
- CAID:CA000013
- ValidationControl:Pathogenic
- Variant:6
- CAID:CA000071
- ClinVarID:127821
- CAID:CA000144
- CAID:CA000251
- Variant:4
- FuncAssay:2
- ClinVarID:127824
- FuncAssay:3
- Variant:15
- Variant:5
- CAID:CA000457
- ClinVarID:12364
- ClinVarID:177825
- CGType:FunctionalAssayResult
- Variant:8
- Variant:48
- CAID:CA645588451
- CAID:CA000272
- ClinVarID:481148
- ClinVarID:376644
- ClinVarID:35555
- Variant:42
Annotators
URL
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