View de novo Variants from PubMed ID: 26352270
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.
| Gene ID | Gene Symbol | Chr | Position | Effect | Ref | Alt | Coding Change | Protein Change | Validation | iFish Probability | iFish Prediction |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG220 | ALDH1A3 | 15 | 101454953 | T | C | p.Ile505Thr | Sanger | 0.7137 | deleterious | ||
| AutG8456 | FOXN1 | 17 | 26851543 | C | T | p.Ser49Leu | Sanger | 0.8526 | deleterious | ||
| AutG4929 | NR4A2 | 2 | 157186342 | C | A | p.Ser119 | Sanger | GAS8-AS1 | 16 | 90095617 | G | GCTGCGGGGCAGC | Sanger |