View de novo Variants from PubMed ID: 27334371
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG8831 | SYNGAP1 | 6 | 33400477 | Stopgain | C | T | C403T | R135X | |||
| AutG6326 | SCN2A | 2 | 166166923 | Nonsynonymous | C | T | C788T | A263V | 0.9996 | deleterious | |
| AutG9343 | EFTUD2 | 17 | 42931953 | Nonsynonymous | T | G | A2230C | I744L | 0.8816 | deleterious | |
| AutG9968 | MED12 | X | 70349234 | Nonsynonymous | G | A | G3646A | V1216M | 0.5537 | deleterious | |
| AutG10771 | ZMYND11 | 10 | 298399 | Nonsynonymous | C | T | C1705T | R569W | 0.5138 | neutral | |
| AutG11177 | BAZ1A | 14 | 35231162 | Nonsynonymous | A | C | T4044G | F1348L | 0.0465 | neutral | |
| AutG6578 | SLCO2A1 | 3 | 133653644 | Synonymous | C | T | G1845A | A615A |