Table 2. Statistically significant recurrently affected genes with potential driver role in pPCL.
| Gene | Gene Name | No. Cases (%) | No. Variants | No. Non-syn SNVs | No. Indels | q-value | Function |
|---|---|---|---|---|---|---|---|
| HLA-DQA1 | major histocompatibility complex, class II, DQ alpha 1 | 3 (25%) | 3 | - | 3* | 3.89E-09 | immune response |
| CIDEC | cell death-inducing DFFA-like effector c | 3 (25%) | 1 | 1* | - | 3.07E-05 | apoptosis |
| CELA1 | chymotrypsin-like elastase family, member 1 | 3 (25%) | 1 | - | 1 | 7.42E-05 | proteolysis, cell membrane and matrix organization |
| SRRM5 | serine/arginine repetitive matrix 5 | 3 (25%) | 2 | 2* | - | 7.89E-05 | unknown |
| CCDC144NL | coiled-coil domain containing 144 family, N-terminal like | 3 (25%) | 2 | - | 2 | 8.59E-05 | unknown |
| SPTB | spectrin, beta, erythrocytic | 3 (25%) | 5 | 5 | - | 0.00280 | cell membrane organization and stability |
| DIS3 | exosome catalytic subunit DIS3 | 3 (25%) | 3 | 3 | - | 0.00427 | RNA binding, RNA degradation |
| FAM166B | family with sequence similarity 166, member B | 2 (16%) | 1 | - | 1* | 0.01062 | unknown |
| RPL17 | ribosomal protein L17 | 2 (16%) | 2 | 1 | 1 | 0.01405 | RNA binding, translation |
| CMYA5 | cardiomyopathy associated 5 | 1 (8%) | 7 | 7 | - | 0.02032 | protein binding |
| UNC80 | unc-80 homolog | 4 (33%) | 4 | 4 | - | 0.02762 | ion transmembrane transport |
| SCN9A | sodium channel, voltage-gated, type IX, alpha subunit | 3 (25%) | 3 | 3 | - | 0.03008 | ion transmembrane transport |
| ZNF598 | zinc finger protein 598 | 3 (25%) | 1 | - | 1* | 0.03008 | translation repressor |
| KIF2B | kinesin family member 2B | 2 (16%) | 2 | 1 | 1 | 0.09976 | chromosome segregation, genome stability |
Note:
*
Identical recurrent variants found in unpaired pPCL samples annotated in both dbSNP and COSMIC catalogue and confirmed somatic in COSMIC website.