Table 1.
Export of Ingenuity Pathway Analysis of 229 genes with at least one damaging mutation showing the top 16 most significant Canonical Pathways across the entire dataset.
| Ingenuity Canonical Pathways | (p-value) | Ratio | No overlap with dataset | Molecules |
|---|---|---|---|---|
| Crosstalk between Dendritic Cells and Natural Killer Cells | 4,7863E-07 | 1,01E-01 | 80/89 (90%) | KIR2DL1/KIR2DL3,KIR3DL1,HLA-DRB1,HLA-A,HLA-C,KIR3DL2,KIR2DL4,MICA,HLA-DRB5 |
| IL-4 Signaling | 4,2658E-06 | 9,20E-02 | 79/87 (91%) | NRAS,HLA-DRB1,TYK2,PIK3C2G,HLA-DQB1,JAK2,HLA-DRB5,ATM |
| Synaptic Long Term Potentiation | 5,88844E-06 | 7,50E-02 | 111/120 (93%) | GRIN2A,PLCE1,NRAS,CREBBP,GRM6,CACNA1C,PRKD3,GRIA3,GRIN3A |
| Dendritic Cell Maturation | 6,76083E-06 | 5,79E-02 | 179/190 (94%) | PLCE1,HLA-DRB1,HLA-A,HLA-C,CREBBP,PIK3C2G,HLA-DQB1,JAK2,FCGR3A/FCGR3B,HLA-DRB5,ATM |
| Natural Killer Cell Signaling | 6,76083E-06 | 7,38E-02 | 113/122 (93%) | KIR2DL1/KIR2DL3,KIR3DL1,NRAS,PIK3C2G,KIR3DL2,KIR2DL4,PRKD3,FCGR3A/FCGR3B,ATM |
| Autoimmune Thyroid Disease Signaling | 1,04713E-05 | 1,28E-01 | 41/47 (87%) | HLA-DRB1,HLA-A,HLA-C,HLA-DQB1,HLA-DRB5,TG |
| Graft-versus-Host Disease Signaling | 1,1749E-05 | 1,25E-01 | 42/48 (88%) | KIR2DL1/KIR2DL3,HLA-DRB1,HLA-A,HLA-C,HLA-DQB1,HLA-DRB5 |
| Amyotrophic Lateral Sclerosis Signaling | 2,63027E-05 | 7,21E-02 | 103/111 (93%) | GRIN2A,PIK3C2G,CACNA1C,NEFH,GRIA3,ATM,GRIK1,GRIN3A |
| CREB Signaling in Neurons | 3,01995E-05 | 5,43E-02 | 174/184 (95%) | GRIN2A,PLCE1,NRAS,CREBBP,PIK3C2G,GRM6,PRKD3,GRIA3,ATM,GRIK1 |
| Neuropathic Pain Signaling In Dorsal Horn Neurons | 3,16228E-05 | 7,02E-02 | 106/114 (93%) | GRIN2A,PLCE1,PIK3C2G,GRM6,PRKD3,GRIA3,ATM,GRIN3A |
| Glutamate Receptor Signaling | 3,23594E-05 | 1,05E-01 | 51/57 (89%) | GRIN2A,GRM6,SLC1A1,GRIA3,GRIK1,GRIN3A |
| Antigen Presentation Pathway | 4,46684E-05 | 1,35E-01 | 32/37 (86%) | HLA-DRB1,HLA-A,HLA-C,HLA-DPB1,HLA-DRB5 |
| Production of Nitric Oxide and Reactive Oxygen Species in Macrophages | 4,57088E-05 | 5,18E-02 | 183/193 (95%) | NCF1,APOB,MPO,TYK2,CREBBP,PIK3C2G,NCF4,JAK2,PRKD3,ATM |
| CNTF Signaling | 5,7544E-05 | 9,52E-02 | 57/63 (90%) | LIFR,NRAS,TYK2,PIK3C2G,JAK2,ATM |
| Virus Entry via Endocytic Pathways | 0,000114815 | 6,86E-02 | 95/102 (93%) | NRAS,HLA-A,HLA-C,CLTCL1,PIK3C2G,PRKD3,ATM |
| Mouse Embryonic Stem Cell Pluripotency | 0,000144544 | 6,60E-02 | 99/106 (93%) | LIFR,NRAS,TYK2,CREBBP,PIK3C2G,JAK2,ATM |
The significant values for the canonical pathways are calculated by Fisher’s exact test right-tailed. The ratio is calculated by the number of genes from the analysis list (229) in the given pathway, divided by the total number of genes that make up that pathway. All molecules involved are shown in the last column.