View de novo Variants from PubMed ID: 28628100
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG55690 | PACS1 | p.Arg203 | |||||||||
| AutG5528 | PPP2R5D | p.Glu198 | |||||||||
| AutG6326 | SCN2A | p.Arg937 | |||||||||
| AutG10522 | DEAF1 | p.Gln264 | |||||||||
| AutG79868 | ALG13 | p.Asn107 | |||||||||
| AutG2890 | GRIA1 | p.Ala636 | |||||||||
| AutG10087 | COL4A3BP | p.Ser260 | |||||||||
| AutG6334 | SCN8A | p.Gly214-p.Asn215 | |||||||||
| AutG10522 | DEAF1 | p.Leu219-p.Gly220 | |||||||||
| AutG23314 | SATB2 | p.Arg399-p.Glu402 | |||||||||
| AutG5518 | PPP2R1A | p.Arg182 | |||||||||
| AutG6334 | SCN8A | p.Arg1617-p.Gly1625 | |||||||||
| AutG5781 | PTPN11 | p.Gly503 | |||||||||
| AutG6812 | STXBP1 | p.Gly544 | |||||||||
| AutG53335 | BCL11A | p.Thr47-p.Cys48 | |||||||||
| AutG3786 | KCNQ3 | p.Arg230 | |||||||||
| AutG8295 | TRRAP | p.Trp1848 | |||||||||
| AutG8218 | CLTCL1 | p.Val641-p.Asn647 | |||||||||
| AutG54822 | TRPM7 | p.Thr379-p.Glu387 | |||||||||
| AutG6326 | SCN2A | p.Arg853 | |||||||||
| AutG128853 | DUSP15 | p.Thr4 | |||||||||
| AutG6326 | SCN2A | p.Arg379 | |||||||||
| AutG23314 | SATB2 | p.Val381-p.Arg389 | |||||||||
| AutG4089 | SMAD4 | p.Ile500 | |||||||||
| AutG51006 | SLC35C2 | p.Ser173-p.Gly176 | |||||||||
| AutG1183 | CLCN4 | p.Arg718 | |||||||||
| AutG7703 | PCGF2 | p.Pro65 | KAT6B | p.Ser1380-p.Glu1389 | |||||||
| AutG7204 | TRIO | p.Pro1461 | |||||||||
| AutG1463 | NCAN | p.Pro1219-p.Val1221 | |||||||||
| AutG3708 | ITPR1 | p.Thr267-p.Arg269 | |||||||||
| AutG23316 | CUX2 | p.Glu590 | |||||||||
| AutG7762 | ZNF215 | p.Arg473 | |||||||||
| AutG6595 | SMARCA2 | p.Arg525 | |||||||||
| AutG10716 | TBR1 | p.Trp271 | |||||||||
| AutG22984 | PDCD11 | p.Arg964 |