Table 3.
Number of cases and controls with high impact variants within a gene (as identified by Ensembl’s Variant Effect Predictor)
| Gene Name | Cases (N = 74) | Controls (N = 93) | P Value |
|---|---|---|---|
| ADCK5 | 52 | 2 | 3.29E-13 |
| AKR1C3 | 67 | 8 | 2.63E-13 |
| ALDH3B2 | 2 | 27 | 6.55E-07 |
| ANKDD1B | 58 | 6 | 3.12E-12 |
| ANKRD36 | 70 | 17 | 8.24E-10 |
| B3GNT6 | 70 | 31 | 1.73E-05 |
| C4orf50 | 31 | 1 | 1.39E-08 |
| CASP12 | 70 | 4 | 2.10E-16 |
| CCDC30 | 22 | 2 | 1.20E-05 |
| CLDN5 | 57 | 22 | 1.57E-05 |
| CNTNAP3 | 22 | 2 | 1.20E-05 |
| CNTNAP3B | 53 | 18 | 5.95E-06 |
| COL6A5 | 66 | 4 | 2.08E-15 |
| EPB41L4A | 22 | 1 | 2.77E-06 |
| FAM157A | 30 | 2 | 1.14E-07 |
| FAM182B | 53 | 6 | 5.18E-11 |
| FOXD4L3 | 52 | 2 | 3.29E-13 |
| GALNT9 | 33 | 1 | 4.30E-09 |
| GOLGA6L2 | 70 | 31 | 1.73E-05 |
| HERC2 | 61 | 14 | 4.65E-09 |
| IGHV3-64 | 28 | 1 | 8.07E-08 |
| LENG9 | 63 | 5 | 4.79E-14 |
| LTN1 | 36 | 8 | 5.24E-06 |
| MAL2 | 70 | 7 | 1.36E-14 |
| MUC5B | 32 | 2 | 3.58E-08 |
| NOTCH2 | 31 | 3 | 2.61E-07 |
| NPIPB15 | 65 | 18 | 2.28E-08 |
| OPLAH | 70 | 11 | 1.81E-12 |
| OR10D3 | 57 | 10 | 6.45E-10 |
| OR11H7 | 47 | 4 | 1.09E-10 |
| OR4C5 | 70 | 30 | 9.98E-06 |
| OR5G3 | 53 | 15 | 5.87E-07 |
| PLK5 | 31 | 2 | 6.40E-08 |
| PRAMEF2 | 55 | 12 | 1.45E-08 |
| SIX1 | 69 | 3 | 8.38E-17 |
| SLC9B1 | 68 | 28 | 6.94E-06 |
| TRAJ37 | 70 | 19 | 4.78E-09 |
| TRAV19 | 30 | 5 | 5.48E-06 |
| TRBV10-1 | 70 | 29 | 5.64E-06 |
| TRBV30 | 40 | 8 | 6.45E-07 |
| TRBV5-5 | 70 | 23 | 1.12E-07 |
| TRBV6-5 | 70 | 21 | 2.45E-08 |
| TRBV6-7 | 53 | 13 | 1.03E-07 |
| TRBV7-1 | 43 | 10 | 9.84E-07 |
| TRBV7-3 | 70 | 22 | 5.30E-08 |
| TRBV7-6 | 70 | 12 | 5.53E-12 |
| TRBV7-7 | 70 | 3 | 7.22E-19 |
| TRBV7-8 | 34 | 1 | 2.40E-09 |
| UBXN11 | 69 | 7 | 2.39E-14 |
| UNKL | 57 | 21 | 8.21E-06 |
| USP17L10 | 41 | 12 | 1.55E-05 |
| ZFPM1 | 70 | 23 | 1.12E-07 |
| ZNF211 | 55 | 16 | 5.14E-07 |
| ZNF598 | 70 | 12 | 5.53E-12 |
We included only genes where the difference between affected cases and controls have a p value <4.47E-05. P values are Bonferroni-corrected significantly different affected genes. From a total of 1,119 genes with high impact variants in both cases and controls, 60 official gene names were identified as harboring high impact mutations in cases and controls. Within this list of differentially affected genes 12/60 (20%) are T cell receptors, shown ordered alphabetically for easier interpretation.