View de novo Variants from PubMed ID: 24463507
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG26155 | NOC2L | 1 | 881802 | missense | C | T | c.1783GTC>ATC | p.595V>I | 0.7788 | deleterious | |
| AutG54936 | ADPRHL2 | 1 | 36557256 | missense | T | C | c.346TAT>CAT | p.116Y>H | 0.995 | deleterious | |
| AutG84251 | SGIP1 | 1 | 67154953 | missense | G | A | c.1438GAT>AAT | p.480D>N | 0.2047 | neutral | |
| AutG83872 | HMCN1 | 1 | 185985113 | silent | T | C | |||||
| AutG343450 | KCNT2 | 1 | 196395019 | missense | C | G | c.1084GGT>CGT | p.362G>R | 0.9714 | deleterious | |
| AutG4139 | MARK1 | 1 | 220835211 | silent | G | A | |||||
| AutG3790 | KCNS3 | 2 | 18113537 | frameshift | TG | T | |||||
| AutG55133 | SRBD1 | 2 | 45778322 | missense | T | A | c.1617TTA>TTT | p.539L>F | 0.5763 | deleterious | |
| AutG27332 | ZNF638 | 2 | 71577361 | frameshift | AT | A | |||||
| AutG56603 | CYP26B1 | 2 | 72362470 | missense | G | A | c.283CGC>TGC | p.95R>C | 0.8497 | deleterious | |
| AutG7840 | ALMS1 | 2 | 73800198 | missense | A | C | c.11191AAC>CAC | p.3731N>H | 0.1971 | neutral | |
| AutG6326 | SCN2A | 2 | 166183403 | frameshift | T | TA | |||||
| AutG91752 | ZNF804A | 2 | 185798420 | missense | C | T | c.346CGC>TGC | p.116R>C | 0.9886 | deleterious | |
| AutG25924 | MYRIP | 3 | 40085652 | silent | C | T | 0.0342 | neutral | |||
| AutG29072 | SETD2 | 3 | 47164140 | silent | T | C | |||||
| AutG54870 | QRICH1 | 3 | 49114314 | frameshift | TG | T | |||||
| AutG7468 | WHSC1 | 4 | 1920309 | frameshift | GC | G | |||||
| AutG55728 | N4BP2 | 4 | 40104472 | missense | C | G | c.1007ACT>AGT | p.336T>S | 0.0428 | neutral | |
| AutG287 | ANK2 | 4 | 114264189 | missense | C | G | c.4112CCC>CGC | p.1371P>R | 0.5164 | deleterious | |
| AutG57556 | SEMA6A | 5 | 115840614 | nonsense | A | T | c.27TAT>TAA | p.9Y>* | |||
| AutG51308 | REEP2 | 5 | 137781275 | silent | G | A | |||||
| AutG56104 | PCDHGB1 | 5 | 140731183 | silent | C | T | |||||
| AutG2196 | FAT2 | 5 | 150930211 | silent | C | G | |||||
| AutG6569 | SLC34A1 | 5 | 176824788 | missense | C | T | c.1421GCC>GTC | p.474A>V | 0.9993 | deleterious | |
| AutG9656 | MDC1 | 6 | 30681921 | missense | A | G | c.176ATG>ACG | p.59M>T | 0.4896 | deleterious | |
| AutG4439 | MSH5 | 6 | 31726346 | missense | G | A | c.1165GCT>ACT | p.389A>T | 0.1408 | neutral | |
| AutG23304 | UBR2 | 6 | 42627568 | missense | C | G | c.3417AAC>AAG | p.1139N>K | 0.5125 | deleterious | |
| AutG860 | RUNX2 | 6 | 45390457 | silent | G | A | |||||
| AutG57673 | BEND3 | 6 | 107391881 | missense | T | C | c.514AAT>GAT | p.172N>D | 0.0941 | neutral | |
| AutG23345 | SYNE1 | 6 | 152728223 | missense | C | T | c.6670GTT>ATT | p.2224V>I | 0.021 | neutral | |
| AutG57492 | ARID1B | 6 | 157527390 | frameshift | C | CG | |||||
| AutG219578 | ZNF804B | 7 | 88963885 | missense | A | T | c.1589GAT>GTT | p.530D>V | 0.3791 | neutral | |
| AutG7589 | ZSCAN21 | 7 | 99661772 | silent | A | G | |||||
| AutG140453 | MUC17 | 7 | 100696348 | silent | G | C | |||||
| AutG7982 | ST7 | 7 | 116593742 | missense | A | C | c.148ACA>CCA | p.50T>P | 0.3325 | neutral | |
| AutG154865 | IQUB | 7 | 123109383 | missense | G | A | c.1466ACG>ATG | p.489T>M | 0.7333 | deleterious | |
| AutG10061 | ABCF2 | 7 | 150915221 | silent | C | A | |||||
| AutG64327 | LMBR1 | 7 | 156619374 | missense | T | C | c.244ATC>GTC | p.82I>V | 0.8201 | deleterious | |
| AutG94137 | RP1L1 | 8 | 10468390 | missense | C | T | c.3218CGG>CAG | p.1073R>Q | 0.2433 | neutral | |
| AutG4173 | MCM4 | 8 | 48874628 | missense | T | C | c.251TTT>TCT | p.84F>S | 0.8672 | deleterious | |
| AutG4173 | MCM4 | 8 | 48883927 | silent | G | A | |||||
| AutG65083 | NOL6 | 9 | 33468867 | nonsense | G | A | p.344Q>* | ||||
| AutG301 | ANXA1 | 9 | 75777757 | missense | G | A | c.535GCT>ACT | p.179A>T | 0.4809 | deleterious | |
| AutG158471 | PRUNE2 | 9 | 79325023 | missense | G | A | c.2167CCT>TCT | p.723P>S | 0.026 | neutral | |
| AutG11224 | RPL35 | 9 | 127620304 | missense | G | A | c.265CGT>TGT | p.89R>C | 0.8988 | deleterious | |
| AutG64072 | CDH23 | 10 | 73491982 | silent | C | T | |||||
| AutG23223 | RRP12 | 10 | 99160118 | missense | C | T | c.313GTC>ATC | p.105V>I | 0.0217 | neutral | |
| AutG1586 | CYP17A1 | 10 | 104595121 | missense | C | T | c.326CGT>CAT | p.109R>H | 0.2283 | neutral | |
| AutG171389 | NLRP6 | 11 | 284614 | missense | C | A | c.2509CAC>AAC | p.837H>N | 0.0048 | neutral | |
| AutG3784 | KCNQ1 | 11 | 2683228 | silent | C | T | |||||
| AutG401667 | OR51A2 | 11 | 4976751 | frameshift | G | GA | |||||
| AutG7762 | ZNF215 | 11 | 6977626 | missense | G | A | c.1418CGG>CAG | p.473R>Q | 0.0664 | neutral | |
| AutG55366 | LGR4 | 11 | 27390002 | silent | A | G | |||||
| AutG4041 | LRP5 | 11 | 68174018 | missense | G | A | c.1828GGG>AGG | p.610G>R | 0.8809 | deleterious | |
| AutG5519 | PPP2R1B | 11 | 111631749 | silent | C | A | |||||
| AutG54682 | MANSC1 | 12 | 12483027 | silent | T | C | |||||
| AutG283431 | GAS2L3 | 12 | 101011562 | silent | T | A | |||||
| AutG51019 | CCDC53 | 12 | 102437956 | missense | A | G | c.251GTT>GCT | p.84V>A | 0.4467 | neutral | |
| AutG79867 | TCTN2 | 12 | 124191337 | missense | C | T | c.1831CCT>TCT | p.611P>S | 0.1115 | neutral | |
| AutG114795 | TMEM132B | 12 | 126139127 | silent | C | T | |||||
| AutG8408 | ULK1 | 12 | 132400965 | missense | C | T | c.1901CCG>CTG | p.634P>L | 0.2474 | neutral | |
| AutG2262 | GPC5 | 13 | 92560202 | missense | G | A | c.1292CGT>CAT | p.431R>H | 0.1592 | neutral | |
| AutG7051 | TGM1 | 14 | 24724606 | missense | G | A | c.1609CGG>TGG | p.537R>W | 0.955 | deleterious | |
| AutG5587 | PRKD1 | 14 | 30102082 | missense | T | C | c.1385TAC>TGC | p.462Y>C | 0.8391 | deleterious | |
| AutG9623 | TCL1B | 14 | 96152831 | silent | A | G | |||||
| AutG7127 | TNFAIP2 | 14 | 103598072 | silent | G | A | |||||
| AutG113146 | AHNAK2 | 14 | 105423814 | missense | C | T | c.146CGA>CAA | p.49R>Q | 0.3307 | neutral | |
| AutG9318 | COPS2 | 15 | 49429353 | silent | C | T | |||||
| AutG5604 | MAP2K1 | 15 | 66729163 | missense | C | T | c.371CCG>CTG | p.124P>L | 0.9638 | deleterious | |
| AutG342132 | ZNF774 | 15 | 90904162 | missense | A | G | c.1099AGA>GGA | p.367R>G | 0.9342 | deleterious | |
| AutG6340 | SCNN1G | 16 | 23224460 | missense | G | A | c.1469CGG>CAG | p.490R>Q | 0.2753 | deleterious | |
| AutG27327 | TNRC6A | 16 | 24835108 | missense | G | T | c.5869GGG>TGG | p.1957G>W | 0.998 | deleterious | |
| AutG5595 | MAPK3 | 16 | 30128162 | missense | G | A | c.1070ACG>ATG | p.357T>M | 0.0055 | neutral | |
| AutG23090 | ZNF423 | 16 | 49670329 | missense | G | A | c.2554CGG>TGG | p.852R>W | 0.2223 | neutral | |
| AutG23090 | ZNF423 | 16 | 49671585 | missense | T | C | c.1298AAT>AGT | p.433N>S | 0.6674 | deleterious | METTL16 | 17 | 2371131 | missense | A | G | c.509CTT>CCT | p.170L>P | 0.9988 | deleterious |
| AutG51168 | MYO15A | 17 | 18047280 | missense | A | G | c.6143TAT>TGT | p.2048Y>C | 0.8078 | deleterious | |
| AutG254272 | TBC1D28 | 17 | 18541660 | missense | T | A | c.353GAC>GTC | p.118D>V | 0.3298 | neutral | |
| AutG3993 | LLGL2 | 17 | 73539565 | silent | C | T | SOGA2 | 18 | 8783786 | missense | G | A | c.676GTG>ATG | p.226V>M | NMRK2 | 19 | 3938710 | silent | G | A |
| AutG23474 | ETHE1 | 19 | 44015690 | missense | T | C | c.404CAC>CGC | p.135H>R | 0.9987 | deleterious | |
| AutG27243 | CHMP2A | 19 | 59063080 | missense | G | C | c.605GCC>GGC | p.202A>G | 0.1403 | neutral | |
| AutG83959 | SLC4A11 | 20 | 3218211 | missense | T | C | c.67AAT>GAT | p.23N>D | 0.0068 | neutral | |
| AutG9777 | TM9SF4 | 20 | 30738473 | missense | T | A | c.1136ATG>AAG | p.379M>K | 0.9985 | deleterious | |
| AutG284827 | KRTAP13-4 | 21 | 31802727 | missense | C | T | c.134TCC>TTC | p.45S>F | 0.6051 | deleterious | |
| AutG1859 | DYRK1A | 21 | 38877655 | nonsense | C | T | c.1309CGA>TGA | p.437R>* | |||
| AutG164592 | CCDC116 | 22 | 21989210 | silent | C | T | |||||
| AutG140883 | ZNF280B | 22 | 22842831 | missense | T | C | c.893CAG>CGG | p.298Q>R | 0.157 | neutral | |
| AutG80115 | BAIAP2L2 | 22 | 38483172 | silent | G | T | |||||
| AutG10343 | PKDREJ | 22 | 46652879 | missense | T | C | c.6341CAT>CGT | p.2114H>R | 0.6196 | deleterious | |
| AutG51284 | TLR7 | X | 12905843 | missense | C | T | c.2216ACG>ATG | p.739T>M | 0.8122 | deleterious | |
| AutG9203 | ZMYM3 | X | 70470552 | missense | T | C | c.803GAT>GGT | p.268D>G | 0.8472 | deleterious | |
| AutG79057 | PRRG3 | X | 150868627 | missense | C | T | c.167ACG>ATG | p.56T>M | 0.4438 | neutral |