View de novo Variants from PubMed ID: 28831199
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG57680 | CHD8 | 14 | 21862265 | Frameshift | C | T | c.5688dupA | p.Arg1897fs | Sanger sequencing | 14 | 21862296 | Frameshift | AG | C | c.5657delAG | p.Thr1886fs | Sanger sequencing |
| AutG1859 | DYRK1A | 21 | 38853069 | Stop-gain | G | T | c.457G>T | p.Glu153Unk | Sanger sequencing | ||
| AutG4204 | MECP2 | X | 153296471 | Stop-gain | G | A | c.844C>T | p.Arg282Unk | Sanger sequencing | ||
| AutG9379 | NRXN2 | 11 | 64457918 | Frameshift | C | G | c.808dupG | p.Ala270fs | Sanger sequencing | ||
| AutG23126 | POGZ | 1 | 151402109 | Stop-gain | G | A | c.379C>T | p.Gln127Unk | Sanger sequencing | ||
| AutG6326 | SCN2A | 2 | 166179813 | Stop-gain | C | T | c.1819C>T | p.Arg607Unk | Sanger sequencing | 2 | 166170189 | Missense | C | T | c.1094C>T | p.Thr365Met | Sanger sequencing |
| AutG5991 | RFX3 | 9 | 3248164 | Frameshift | TA | C | c.1835delTA | p.Leu612fs | Sanger sequencing | ||
| AutG287 | ANK2 | 4 | 114275103 | Missense | G | C | c.5329G>C | p.Val1777Leu | Sanger sequencing | 0.8702 | deleterious |
| AutG9639 | ARHGEF10 | 8 | 1877564 | Missense | G | A | c.3034G>A | p.Ala1012Thr | Sanger sequencing | 0.8669 | deleterious |
| AutG8019 | BRD3 | 9 | 136913560 | Missense | C | T | c.731G>A | p.Arg244Gln | Sanger sequencing | 0.9832 | deleterious |
| AutG22995 | CEP152 | 15 | 49048380 | Missense | T | C | c.3065?A>G | p.Gln1022Arg | Sanger sequencing | 0.6365 | deleterious |
| AutG1131 | CHRM3 | 1 | 240072174 | Missense | A | T | c.1423?A>T | p.Ile475Phe | Sanger sequencing | 0.9843 | deleterious |
| AutG1376 | CPT2 | 1 | 53676893 | Missense | T | C | c.1547?T>C | p.Phe516Ser | Sanger sequencing | 0.9995 | deleterious |
| AutG2201 | FBN2 | 5 | 127702120 | Missense | T | G | c.2252?A>C | p.Glu751Ala | Sanger sequencing | 0.7642 | deleterious |
| AutG3855 | KRT7 | 12 | 52635307 | Missense | A | G | c.745?A>G | p.Met249Val | Sanger sequencing | 0.9735 | deleterious |
| AutG5596 | MAPK4 | 18 | 48241495 | Missense | G | A | c.593G>A | p.Arg198Gln | Sanger sequencing | 0.9523 | deleterious |
| AutG57496 | MKL2 | 16 | 14340619 | Missense | C | T | c.1502C>T | p.Ser501Phe | Sanger sequencing | 0.2358 | neutral |
| AutG4627 | MYH9 | 22 | 36697021 | Missense | C | T | c.2714G>A | p.Arg905His | Sanger sequencing | 0.9657 | deleterious |
| AutG10585 | POMT1 | 9 | 134396829 | Missense | C | T | c.1444C>T | p.Arg482Trp | Sanger sequencing | 0.5125 | deleterious |
| AutG9414 | TJP2 | 9 | 71849443 | Missense | T | C | c.1772?T>C | p.Leu591Ser | Sanger sequencing | 0.4182 | neutral |