View de novo Variants from PubMed ID: 25961944
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG473 | RERE | 1 | 8421289 | STOP_GAINED | G | A | p.Gln760* | Sanger | |||
| AutG4774 | NFIA | 1 | 61818236 | NON_SYNONYMOUS_CODING | C | T | p.Thr317Met | Sanger | 0.0311 | neutral | |
| AutG284613 | CYB561D1 | 1 | 110038457 | STOP_GAINED | G | T | p.Gly124* | Sanger | |||
| AutG8799 | PEX11B | 1 | 145517271 | SPLICE_SITE_ACCEPTOR | A | G | Sanger | ||||
| AutG55870 | ASH1L | 1 | 155317482 | FRAME_SHIFT | C | CCTTG | -2589Q? | Sanger | |||
| AutG149628 | PYHIN1 | 1 | 158906752 | NON_SYNONYMOUS_CODING | A | G | p.Asn18Asp | Sanger | 0.026 | neutral | |
| AutG481 | ATP1B1 | 1 | 169094277 | NON_SYNONYMOUS_CODING | G | A | p.Asp128Asn | Sanger | 0.0101 | neutral | |
| AutG2052 | EPHX1 | 1 | 226026444 | NON_SYNONYMOUS_CODING | G | A | p.Gly152Ser | Sanger | 0.9151 | deleterious | |
| AutG51692 | CPSF3 | 2 | 9588447 | NON_SYNONYMOUS_CODING | A | C | p.Thr455Pro | Sanger | 0.9264 | deleterious | |
| AutG344167 | FOXI3 | 2 | 88751635 | STOP_LOST | C | G | *140S | Sanger | |||
| AutG57520 | HECW2 | 2 | 197084846 | NON_SYNONYMOUS_CODING | T | C | p.Asp1442Gly | Sanger | 0.5952 | deleterious | |
| AutG2335 | FN1 | 2 | 216251636 | NON_SYNONYMOUS_CODING | T | G | p.Asn1463Thr | Sanger | 0.4875 | neutral | |
| AutG26058 | GIGYF2 | 2 | 233712061 | NON_SYNONYMOUS_CODING | C | G | p.Pro1176Arg | Sanger | 0.768 | deleterious | |
| AutG165904 | XIRP1 | 3 | 39230164 | NON_SYNONYMOUS_CODING | C | T | p.Arg258Gln | Sanger | 0.9427 | deleterious | |
| AutG339122 | RAB43 | 3 | 128840285 | NON_SYNONYMOUS_CODING | A | T | p.Asp16Glu | Sanger | 0.0628 | neutral | |
| AutG132949 | AASDH | 4 | 57248651 | FRAME_SHIFT | G | GT | -14? | Sanger | |||
| AutG54790 | TET2 | 4 | 106155888 | NON_SYNONYMOUS_CODING | G | T | p.Glu263Asp | Sanger | 0.8304 | deleterious | |
| AutG1008 | CDH10 | 5 | 24492972 | FRAME_SHIFT | GA | G | -526 | Sanger | |||
| AutG5734 | PTGER4 | 5 | 40692019 | NON_SYNONYMOUS_CODING | G | T | p.Val336Leu | Sanger | 0.9813 | deleterious | |
| AutG84059 | GPR98 | 5 | 90144469 | NON_SYNONYMOUS_CODING | A | G | p.Lys5679Glu | Sanger | |||
| AutG8974 | P4HA2 | 5 | 131543433 | NON_SYNONYMOUS_CODING | T | A | p.Ile350Phe | Sanger | 0.982 | deleterious | |
| AutG10802 | SEC24A | 5 | 134059281 | NON_SYNONYMOUS_CODING | CC | AG | p.Pro1030Arg | Sanger | 0.3635 | neutral | |
| AutG10007 | GNPDA1 | 5 | 141384600 | NON_SYNONYMOUS_CODING | A | G | p.Met164Thr | Sanger | 0.3759 | neutral | |
| AutG54439 | RBM27 | 5 | 145603023 | NON_SYNONYMOUS_CODING | C | T | p.Pro79Leu | Sanger | 0.4695 | deleterious | |
| AutG3161 | HMMR | 5 | 162917425 | FRAME_SHIFT | T | TA | -665? | Sanger | |||
| AutG9820 | CUL7 | 6 | 43011218 | NON_SYNONYMOUS_CODING | G | A | p.Ala1192Val | Sanger | 0.1183 | neutral | |
| AutG5314 | PKHD1 | 6 | 51618094 | NON_SYNONYMOUS_CODING | A | G | p.Leu2952Pro | Sanger | 0.9919 | deleterious | |
| AutG23469 | PHF3 | 6 | 64423108 | NON_SYNONYMOUS_CODING | C | T | p.Ala1875Val | Sanger | 0.0188 | neutral | |
| AutG23089 | PEG10 | 7 | 94293229 | NON_SYNONYMOUS_CODING | G | A | p.Val197Met | Sanger | 0.3664 | neutral | |
| AutG64599 | GIGYF1 | 7 | 100279943 | SPLICE_SITE_DONOR | A | G | Sanger | ||||
| AutG23145 | SSPO | 7 | 149519648 | NON_SYNONYMOUS_CODING | C | T | p.Arg4380Trp | Sanger | 0.0647 | neutral | TBC1D31 | 8 | 124113166 | NON_SYNONYMOUS_CODING | T | A | p.His317Gln | Sanger | 0.3109 | neutral |
| AutG58499 | ZNF462 | 9 | 109691619 | NON_SYNONYMOUS_CODING | C | T | p.Ala1809Val | Sanger | 0.4106 | neutral | |
| AutG3688 | ITGB1 | 10 | 33200439 | NON_SYNONYMOUS_CODING | G | A | p.Pro623Leu | Sanger | 0.637 | deleterious | |
| AutG118461 | C10orf71 | 10 | 50534797 | NON_SYNONYMOUS_CODING | G | A | p.Gly1403Ser | Sanger | 0.2199 | neutral | |
| AutG57661 | PHRF1 | 11 | 610966 | NON_SYNONYMOUS_CODING | C | G | p.Leu1564Val | Sanger | 0.0079 | neutral | GALNT18 | 11 | 11314679 | CODON_CHANGE_PLUS_CODON_DELETION | TCATCCACGGTG | TGT | TVDD522N | Sanger |
| AutG10992 | SF3B2 | 11 | 65822676 | NON_SYNONYMOUS_CODING | C | T | p.Pro130Ser | Sanger | 0.8841 | deleterious | |
| AutG219899 | TBCEL | 11 | 120926018 | SPLICE_SITE_DONOR | G | T | Sanger | ||||
| AutG89795 | NAV3 | 12 | 78511923 | NON_SYNONYMOUS_CODING | G | T | p.Lys962Asn | Sanger | 0.2031 | neutral | |
| AutG196385 | DNAH10 | 12 | 124303750 | NON_SYNONYMOUS_CODING | G | A | p.Arg1200His | Sanger | 0.0825 | neutral | |
| AutG64328 | XPO4 | 13 | 21370323 | STOP_GAINED | G | A | p.Gln897* | Sanger | |||
| AutG283635 | FAM177A1 | 14 | 35548132 | SPLICE_SITE_ACCEPTOR | G | A | Sanger | ||||
| AutG440193 | CCDC88C | 14 | 91744403 | NON_SYNONYMOUS_CODING | G | C | p.Leu1641Val | Sanger | 0.0868 | neutral | |
| AutG1778 | DYNC1H1 | 14 | 102446851 | NON_SYNONYMOUS_CODING | C | T | p.Arg309Cys | Sanger | 0.9772 | deleterious | |
| AutG9578 | CDC42BPB | 14 | 103405969 | NON_SYNONYMOUS_CODING | T | C | p.Gln1602Arg | Sanger | 0.9787 | deleterious | |
| AutG23312 | DMXL2 | 15 | 51766611 | NON_SYNONYMOUS_CODING | C | T | p.Met2381Ile | Sanger | 0.1997 | neutral | |
| AutG84952 | CGNL1 | 15 | 57815788 | NON_SYNONYMOUS_CODING | G | T | p.Met939Ile | Sanger | 0.3128 | neutral | |
| AutG390594 | KBTBD13 | 15 | 65369229 | NON_SYNONYMOUS_CODING | G | A | p.Val26Met | Sanger | 0.5444 | deleterious | |
| AutG8125 | ANP32A | 15 | 69080207 | FRAME_SHIFT | CTTCGAGTTTGCCTTCA | C | -30 | Sanger | |||
| AutG64410 | KLHL25 | 15 | 86311780 | NON_SYNONYMOUS_CODING | G | A | p.Ala421Val | Sanger | 0.1766 | neutral | |
| AutG145748 | LYSMD4 | 15 | 100272044 | NON_SYNONYMOUS_CODING | T | C | p.Glu54Gly | Sanger | 0.4239 | neutral | |
| AutG9351 | SLC9A3R2 | 16 | 2086460 | NON_SYNONYMOUS_CODING | C | T | p.Pro73Ser | Sanger | 0.6155 | deleterious | |
| AutG80004 | ESRP2 | 16 | 68267733 | FRAME_SHIFT | AAT | A | -164 | Sanger | |||
| AutG11060 | WWP2 | 16 | 69922119 | NON_SYNONYMOUS_CODING | C | T | p.Ala294Val | Sanger | 0.023 | neutral | |
| AutG339145 | FAM92B | 16 | 85143894 | NON_SYNONYMOUS_CODING | G | A | p.Arg65Trp | Sanger | 0.9544 | deleterious | |
| AutG124245 | ZC3H18 | 16 | 88691091 | FRAME_SHIFT | C | CAAGCCAGGAGACCCTCGGG | -661KPGDPR? | Sanger | |||
| AutG750 | C16orf3 | 16 | 90095511 | NON_SYNONYMOUS_CODING | TG | AT | p.Pro80His | Sanger | |||
| AutG57555 | NLGN2 | 17 | 7318418 | NON_SYNONYMOUS_CODING | C | T | p.Arg330Cys | Sanger | 0.9824 | deleterious | |
| AutG6329 | SCN4A | 17 | 62049125 | NON_SYNONYMOUS_CODING | G | A | p.Arg190Trp | Sanger | 0.9999 | deleterious | |
| AutG57674 | RNF213 | 17 | 78263533 | NON_SYNONYMOUS_CODING | G | A | p.Glu337Lys | Sanger | 0.1434 | neutral | |
| AutG56853 | CELF4 | 18 | 34855162 | STOP_GAINED | C | A | p.Glu165* | Sanger | |||
| AutG4772 | NFATC1 | 18 | 77160481 | SPLICE_SITE_DONOR | T | G | Sanger | ||||
| AutG6209 | RPS15 | 19 | 1438831 | NON_SYNONYMOUS_CODING | G | T | p.Arg10Leu | Sanger | 0.9483 | deleterious | |
| AutG23476 | BRD4 | 19 | 15353791 | NON_SYNONYMOUS_CODING | G | A | p.Pro1030Leu | Sanger | 0.3034 | neutral | |
| AutG23476 | BRD4 | 19 | 15375549 | NON_SYNONYMOUS_CODING | T | C | p.Asp293Gly | Sanger | 0.9625 | deleterious | |
| AutG2901 | GRIK5 | 19 | 42546852 | NON_SYNONYMOUS_CODING | C | T | p.Arg442His | Sanger | 0.3877 | neutral | |
| AutG7769 | ZNF226 | 19 | 44679683 | STOP_GAINED | C | T | p.Gln90* | Sanger | |||
| AutG50944 | SHANK1 | 19 | 51169513 | NON_SYNONYMOUS_CODING | C | T | p.Gly1902Arg | Sanger | 0.0388 | neutral | |
| AutG84446 | BRSK1 | 19 | 55805700 | FRAME_SHIFT | GA | G | -205 | Sanger | |||
| AutG84878 | ZBTB45 | 19 | 59028431 | FRAME_SHIFT | CAG | C | -203 | Sanger | |||
| AutG85449 | KIAA1755 | 20 | 36869368 | NON_SYNONYMOUS_CODING | C | T | p.Ala389Thr | Sanger | 0.0673 | neutral | |
| AutG4605 | MYBL2 | 20 | 42343883 | FRAME_SHIFT | TG | T | -645 | Sanger | |||
| AutG468 | ATF4 | 22 | 39917832 | FRAME_SHIFT | TC | T | -94 | Sanger | |||
| AutG8481 | OFD1 | X | 13774696 | SPLICE_SITE_ACCEPTOR | G | T | Sanger | ||||
| AutG1538 | CYLC1 | X | 83128308 | STOP_GAINED | A | T | p.Lys198* | Sanger | |||
| AutG55558 | PLXNA3 | X | 153692845 | SPLICE_SITE_DONOR | G | A | Sanger |