View de novo Variants from PubMed ID: 21572417
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG7053 | TGM3 | 20 | 2291665 | Missense | G | A | c.430G>A | p.Val144Ile | Sanger sequencing | 0.993 | deleterious |
| AutG10319 | LAMC3 | 9 | 133914290 | Missense | A | G | c.1016A>G | p.Asp339Gly | Sanger sequencing | 0.5885 | deleterious |
| AutG4640 | MYO1A | 12 | 57422391 | 3-UTR | Sanger sequencing | ||||||
| AutG124274 | GPR139 | 16 | 20043668 | Missense | T | C | c.451A>G | p.Ser151Gly | Sanger sequencing | 0.0827 | neutral |
| AutG6323 | SCN1A | 2 | 166848071 | Missense | p.Pro1894Leu | Sanger sequencing | |||||
| AutG5333 | PLCD1 | 3 | 38058203 | Synonymous | Sanger sequencing | ||||||
| AutG23345 | SYNE1 | 6 | 152823811 | Missense | c.845A>G | p.Tyr282Cys | Sanger sequencing | ||||
| AutG138474 | TAF1L | 9 | 32629906 | 3-UTR | Sanger sequencing | ||||||
| AutG84516 | DCTN5 | 16 | 23678493 | 3-UTR | Sanger sequencing | ||||||
| AutG64924 | SLC30A5 | 5 | 68417634 | Missense | p.Ser561Arg | Sanger sequencing | 0.047 | neutral | |||
| AutG7850 | IL1R2 | 2 | 102626046 | Synonymous | Sanger sequencing | ||||||
| AutG27125 | AFF4 | 5 | 132223552 | Synonymous | Sanger sequencing | ||||||
| AutG2904 | GRIN2B | 12 | 13722953 | 3-splice | Sanger sequencing | ||||||
| AutG2051 | EPHB6 | 7 | 142564780 | Synonymous | Sanger sequencing | ||||||
| AutG55843 | ARHGAP15 | 2 | 144008169 | Synonymous | Sanger sequencing | ||||||
| AutG165904 | XIRP1 | 3 | 39229490 | Missense | p.Val483Met | Sanger sequencing | |||||
| AutG23563 | CHST5 | 16 | 75563974 | Synonymous | Sanger sequencing | ||||||
| AutG7273 | TTN | 2 | 179437710 | Synonymous | Sanger sequencing | ||||||
| AutG11011 | TLK2 | 17 | 60679466 | Missense | p.Ser595Leu | Sanger sequencing | |||||
| AutG27303 | RBMS3 | 3 | 30029683 | Missense | p.Thr383Met | Sanger sequencing | |||||
| AutG27086 | FOXP1 | 3 | 71050170 | Frameshift | p.Ala339SerfsX4 | Sanger sequencing |