Table 5.
Confirmed de novo variants in sJIA/MAS patients
| ID | Gene | Chr/Position | Classification | HGVS coding | HGVS protein | Function | Expression pattern |
|---|---|---|---|---|---|---|---|
| 53 | C7orf70 | 7:6370406 | Nonsyn SNV | c.380G>A | Arg127Gln | ||
| 53 | ACIN1 | 14:23548787 | Sub | c.1931delins GTTCACG | 644delinsArg SerArg | Apoptotic chromatin condensation inducer | ↑in CD8+ T cells and monomyelocyto id lineage |
| 327 | NIPBL | 5:37006499 | Del | c.3896_3898 delTTA | 1299_1300de linsLeu | Contains HEAT repeats | ↑in CD8+ T cells |
| 327 | ZIK1 | 19:58101966 | Frameshift Del | c.787delG | 263fs | Docking platform for protein interactions | |
| 7431 | WDR66 | 12:122359408 | Nonsyn SNV | c.197G>A | Gly66Glu | WD repeat-containing family of proteins | |
| 7437 | KIF24 | 9:34256529 | Nonsyn SNV | c.3076G>A | Gly1026Ser | Kinesin family, microtubule-dependent ATPases | Ubiquitous expression |
| 7437 | GPR132 | 14:105518013 | Nonsyn SNV | c.461G>A | Arg154His | may react to LPS at sites of inflammation to limit the expansion of tissue-infiltrating cells | ↑in CD8+ T cells and monomyelocyto id lineage |
| 72575 | CAMK1, OGG1 | 3:9807532 | Nonsyn SNV | c.988C>T | Arg330Cys | DNA repair | Ubiquitous expression |