View de novo Variants from PubMed ID: 27848077
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG9320 | TRIP12 | c.3356+1G>A | p.(Ala1061 Glufs*16) | ||||||||
| AutG9320 | TRIP12 | c.2524+3dupA | p.(Ala791 Valfs*16) | ||||||||
| AutG9320 | TRIP12 | c.460_461delAG | p.(Ser154Phefs*10) | ||||||||
| AutG9320 | TRIP12 | c.2300C>T | p.(Ala767Val) | ||||||||
| AutG9320 | TRIP12 | c.5618C>T | p.(Ser1873Leu) | ||||||||
| AutG9320 | TRIP12 | c.4883G>A | p.(Arg1628Gln) | ||||||||
| AutG9320 | TRIP12 | c.1012C>T | p.(Arg338Ter) | ||||||||
| AutG8678 | BECN1 | c.1231G>A | |||||||||
| AutG124817 | CNTD1 | c.*1347C>T | |||||||||
| AutG282973 | JAKMIP3 | 10 | 133950737 | C | T | ||||||
| AutG373 | TRIM23 | 5 | 64892348 | C | T | c.1320G>A | p.Val440Val | ||||
| AutG3441 | IFNA4 | 9 | 21187406 | G | C | c.125C>G | p.Ala42Gly | 0.012 | neutral | ||
| AutG23645 | PPP1R15A | 19 | 49376940 | A | C | c.450A>C | p.Thr150Thr | ||||
| AutG5456 | POU3F4 | X | 82764134 | A | G | c.802A>G | p.Ser268Gly |