Table 1.
ALS-associated genes investigated in this study, and their basic characteristics.
| Gene | Chromosome locus | Genetic effect | Transcript length (kbp) | Putative pathway/function |
|---|---|---|---|---|
| ALS2 | 2q33.1 | AR | 6.68 | Vesicular trafficking |
| ANG | 14q11.2 | AD | 1.22 | Angiogenesis |
| ANXA11 | 10q22.3 | AD | 6.97 | Proteostasis |
| ATXN2 | 12q24.12 | AD, RF | 4.7 | Ribostasis; endocytosis |
| C21orf2/CFAP410 | 21q22.3 | AD, RF | 2.21 | Cytoskeletal organisation; cilia formation |
| C9orf72 | 9p21.2 | AD | 3.34 | Autophagy; intracellular trafficking; proteostasis; nucleocytoplasmic transport |
| CAPN14 | 2p23.1 | RF | 3.79 | Apoptosis; cytoskeletal dynamics |
| CCNF | 16p13.3 | AD | 4.23 | Proteostasis |
| CHCHD10 | 22q11.23 | AD | 1.17 | Autophagy; neuroinflammation |
| CHMP2B | 3p11.2 | AD | 2.59 | Vesicular trafficking; proteostasis |
| CYLD | 16q12.1 | AD | 8.5 | Deubiquitinase activity |
| DAO | 12q24.11 | AD | 1.69 | D-serine regulation |
| DCTN1 | 2p13.1 | AD | 4.5 | Vesicular trafficking; proteostasis |
| DDX20 | 1p13.2 | RF | 3.6 | Ribostasis |
| DNAJC7 | 17q21.2 | AD | 1.81 | Proteostasis |
| ELP3 | 8p21.1 | RF | 3.15 | Ribostasis; cytoskeletal integrity |
| ERBB4 | 2q34 | AD | 12.1 | Cell signalling |
| EWSR1 | 22q12.2 | AD | 2.65 | Ribostasis |
| FIG4 | 6q21 | AD | 3.01 | Vesicular trafficking |
| FUS | 16p11.2 | AD | 5.12 | Ribostasis |
| GGNBP2 | 17q12 | RF | 2.82 | Cell signalling |
| GLE1 | 9q34.11 | AR | 3.32 | Ribostasis |
| GLT8D1 | 3p21.1 | AD | 1.85 | Proteostasis |
| GPX3 | 5q33.1 | RF | 1.6 | Oxidative stress |
| GRN | 17q21.31 | AD | 2.13 | Cell growth |
| HNRNPA1 | 12q13.13 | AD | 1.84 | Ribostasis |
| HNRNPA2B1 | 7p15.2 | AD | 3.66 | Ribostasis |
| KIF5A | 12q13.3 | AD | 5.78 | Vesicular trafficking |
| MAPT | 17q21.31 | AD | 6.82 | Cytoskeletal organisation |
| MATR3 | 5q31.2 | AD | 4.84 | Ribostasis |
| MOBP | 3p22.1 | RF | 1.34 | Structural constituent of myelin sheath |
| NEFH | 22q12.2 | AD | 3.78 | Axonal transport |
| NEK1 | 4q33 | AD | 5.65 | DNA damage repair |
| NIPA1 | 15q11.2 | RF | 6.55 | Vesicular trafficking |
| OPTN | 10p13 | AD, AR | 3.52 | NfkB signal transduction; autophagy |
| PFN1 | 17p13.2 | AD | 1.29 | Cytoskeletal organisation; axonal growth and transport |
| PRPH | 12q13.12 | AD | 1.8 | Cytoskeletal organisation |
| SARM1 | 17q11.2 | RF | 10.27 | Cell signalling |
| SCFD1 | 14q12 | RF | 2.36 | Vesicular trafficking |
| SETX | 9q34.13 | AD | 11.1 | Ribostasis |
| SIGMAR1 | 9p13.3 | AR | 1.67 | Signal transduction amplification |
| SMN1 | 5q13.2 | RF | 1.55 | Ribostasis |
| SMN2 | 5q13.2 | RF | 1.55 | Ribostasis |
| SOD1 | 21q22.11 | AR, AD | 0.97 | Oxidative stress; proteostasis |
| SPAST | 2p22.3 | AD | 5.28 | Endocytosis |
| SPG11 | 15q14 | AR | 7.77 | Cytoskeletal organisation; vesicular transport |
| SQSTM1 | 5q35.3 | AD | 2.84 | Autophagy; neuroinflammation |
| SS18L1 | 20q13.33 | AD | 4.55 | Ribostasis |
| TAF15 | 17q12 | AR, AD | 2.16 | Ribostasis |
| TARDBP | 1p36.22 | AD | 5.37 | Ribostasis |
| TBK1 | 12q14.2 | AD | 3.02 | Autophagy, inflammation |
| TIA1 | 2p13.3 | AD | 4.63 | Ribostasis |
| TNIP1 | 5q33.1 | RF | 2.79 | NfκB signal transduction |
| TUBA4A | 2q35 | AD | 2.05 | Cytoskeletal organisation; axonal transport |
| UBQLN2 | Xp11.21 | XD | 4.23 | Proteostasis |
| UNC13A | 19p13.11 | RF | 9.84 | Neurotransmitter release regulation |
| VAPB | 20q13.32 | AD | 7.94 | Proteostasis |
| VCP | 9p13.3 | AD | 3.75 | Proteostasis |