Table 2.
A summary of the Hallmark Enrichment Signatures of 19 ASD molecular datasets, highlighting canonical pathways that were most consistently implicated in ASD proteomic, transcriptomic, and DNAm datasets from blood and brain tissue. Each independent dataset was annotated with respect to the top ten significantly enriched Hallmark canonical pathways (FDR < 0.5); data indicate the number of enrichment signatures implicating each canonical pathway. Pathways in bold = strongly supported using all three molecular approaches; pathways in italicised = supported by two (of three) molecular datasets.
| No. of Enrichment Signatures | |||||
|---|---|---|---|---|---|
| Proteomic | Transcriptomic | DNAm | |||
| Hallmark Canonical Pathways | Blood/Brain | Hallmark Canonical Pathways | Blood/Brain | Hallmark Canonical Pathways | Blood/Brain/Buccal |
| COAGULATION | 3/2 | INTERFERON GAMMA RESPONSE | 3/6 | OXIDATIVE PHOSPHORYLATION | 0/2/1 |
| COMPLEMENT | 3/0 | COMPLEMENT | 4/4 | P53 PATHWAY | 1/1/1 |
| OXIDATIVE PHOSPHORYLATION | 1/2 | MTORC1 SIGNALING | 3/3 | MITOTIC SPINDLE | 1/1/1 |
| MTORC1 SIGNALING | 1/2 | P53 PATHWAY | 2/5 | MTORC1 SIGNALING | 0/1/1 |
| XENOBIOTIC METABOLISM | 1/2 | ALLOGRAFT REJECTION | 3/3 | XENOBIOTIC METABOLISM | 1/0/1 |
| ADIPOGENESIS | 1/2 | INTERFERON ALPHA RESPONSE | 4/4 | UV RESPONSE UP | 1/1/0 |
| UNFOLDED PROTEIN RESPONSE | 1/1 | TNFA SIGNALING VIA NFKB | 4/3 |
UNFOLDED PROTEIN
RESPONSE |
0/2/0 |
| MYOGENESIS | 1/1 | HYPOXIA | 2/3 | ESTROGEN RESPONSE EARLY | 1/1/0 |
| FATTY ACID METABOLISM | 1/1 | INFLAMMATORY RESPONSE |
3/4 | E2F TARGETS | 0/1/1 |
| MYC TARGETS V1 | 1/1 | APOPTOSIS | 3/4 | DNA REPAIR | 0/1/1 |
| ANGIOGENESIS | 2/0 | OXIDATIVE PHOSPHORYLATION | 1/3 | PEROXISOME | 0/2/0 |
| EPITHELIAL MESENCHYMAL TRANSITION | 1/4 | ||||
| KRAS SIGNALING UP | 0/4 | ||||