View de novo Variants from PubMed ID: 25533962
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG23389 | MED13L | 12 | 116446528 | Loss of function | G | A | |||||
| AutG57492 | ARID1B | 6 | 157527679 | Loss of function | C | T | |||||
| AutG4297 | MLL | 11 | 118373178 | Loss of function | C | T | |||||
| AutG1859 | DYRK1A | 21 | 38850535 | Frameshift | AC | A | |||||
| AutG8573 | CASK | X | 41519760 | Missense | G | A | 0.9635 | deleterious | |||
| AutG5781 | PTPN11 | 12 | 112926887 | Missense | G | A | 0.9864 | deleterious | |||
| AutG6326 | SCN2A | 2 | 166172031 | Frameshift | TG | T | |||||
| AutG6326 | SCN2A | 2 | 166179687 | Frameshift | TC | T | |||||
| AutG11152 | WDR45 | X | 48935752 | Splice variant | C | G | 0.2242 | neutral | |||
| AutG53335 | BCL11A | 2 | 60773348 | Missense | C | A | 0.9732 | deleterious | |||
| AutG23394 | ADNP | 20 | 49508751 | Frameshift | CTTTATTTA | CTTTA | |||||
| AutG57492 | ARID1B | 6 | 157222647 | Loss of function | C | A | |||||
| AutG6812 | STXBP1 | 9 | 130435529 | Loss of function | C | T | |||||
| AutG6326 | SCN2A | 2 | 166165305 | Splice variant | G | A | |||||
| AutG29123 | ANKRD11 | 16 | 89349242 | Frameshift | CTGTTT | CT |