Table 5. Biological functions and phenotypes associated with the top differentially expressed proteins in ASD with severe language impairment.
| Proteins | Description | GeneCards Functions/Phenotypes | AutismKB Databases |
|---|---|---|---|
| AHSG | Alpha-2-HS-glycoprotein | Present in the cortical plate of the immature cerebral cortex, brain development | / |
| ANXA5 | Annexin A5 | Calcium channel activity, inflammation, placental anticoagulation | / |
| CALM1 | Calmodulin-1 | Calcium-modulated protein | - |
| CCT5 | T-complex protein 1 subunit epsilon | Hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP), Increased circadian period length | / |
| CLTA | Clathrin light chain A | Component of coated vesicles and synaptic vesicles | / |
| COX5A | Cytochrome c oxidase subunit 5A, mitochondrial | Mitochondrial respiratory chain | / |
| DBI | Diazepam-binding inhibitor | Diazepam-binding inhibitor via GABAA receptor binding, behavior/neurological phenotype, mortality/aging | - |
| DLD | Dihydrolipoyl dehydrogenase, mitochondrial | Global/neurodevelopmental delay, cerebellar ataxia, seizure, etc. | / |
| ENO1 | Alpha-enolase | Activator of plasminogen on the cell surface of several cell types, such as leukocytes and neurons | / |
| ERH | Enhancer of rudimentary homolog | A component of the methylosome, targeting proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein (snRNP) core particles | - |
| GSTP1 | Glutathione S-transferase P | Detoxification, decreased NANOG and OCT4 protein expression | / |
| H3F3C | Peptidyl-prolyl cis-trans isomerase A | Chromatin/nucleosome remodeling | / |
| HNRNPA1 | 40S ribosomal protein SA | Pre-mRNA processing, early-onset Paget disease, frontotemporal dementia | / |
| IDH2 | Isocitrate dehydrogenase [NADP], mitochondrial | Global/neurodevelopmental delay, seizure, etc. | / |
| LGALS1 | Galectin-1 | Expressed in brain endothelial cells, immune tolerance in pregnancy, enhanced apoptosis, autophagy | / |
| PGAM1 | Phosphoglycerate mutase 1 (brain isoform) | Corticobasal degeneration | - |
| TPT1 | Translationally controlled tumor protein | Allergic hypersensitivity disease, paraneoplastic cerebellar degeneration | / |
| TUBB | Tubulin beta chain | Mutations in this gene cause complex cortical dysplasia, with other brain malformations | / |
Biological functions and phenotypes associated with each protein were obtained from the GeneCards Database and AutismKB (/ = present in the database).