Table 1 Selected genes with greatest LOEUF difference between values calculated with either DoS or pLoF variation
Gene | Length (nt) | Transcript | Missense DoF | GnomAD pLoF | OMIM Phenotype-Genotype (MIM numbers) | ||||
---|---|---|---|---|---|---|---|---|---|
Observed Variants | Expected Varaints | LOEUF | Observed Variants | Expected Variants | LOEUF | ||||
HLA genes - high missense variants, antigenic diversity | |||||||||
 HLA-DRB1 | 798 | ENST00000360004 | 78 | 31.00 | 2 | 6 | 10.24 | 1.16 |  |
 HLA-B | 1086 | ENST00000412585 | 128 | 60.05 | 2 | 10 | 18.59 | 0.91 |  |
Appear constrained in GnomAD, due to very few observed LoF | |||||||||
 RGS1 | 627 | ENST00000367459 | 43 | 29.25 | 1.86 | 1 | 9.39 | 0.51 |  |
 AQP9 | 885 | ENST00000219919 | 139 | 81.23 | 1.94 | 3 | 11.72 | 0.66 |  |
 RAD23B | 1227 | ENST00000358015 | 84 | 67.79 | 1.48 | 1 | 20.92 | 0.23 |  |
 PRPS1L1 | 954 | ENST00000506618 | 103 | 29.87 | 2 | 2 | 8.01 | 0.79 |  |
 LAMTOR3 | 372 | ENST00000499666 | 31 | 23.53 | 1.76 | 1 | 8.66 | 0.55 |  |
Appear unconstrained in GnomAD, but with penetrant mutant phenotypes | |||||||||
 KLLN | 534 | ENST00000445946 | 22 | 52.18 | 0.6 | 3 | 2.62 | 1.89 | 615107, 612105 |
 SDHAF1 | 345 | ENST00000378887 | 28 | 66.18 | 0.58 | 1 | 0.91 | 1.90 | 619166, 612848 |