AutismKB 2.0

View Mosaic Variants from PubMed ID: 28503910


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.


Entrez ID Gene Symbol Chr Position Ref Alt iFish Probability iFish Prediction Mosaic Detail
AutG57157 PHTF2 7 77572116 G A Detail
AutG283373 ANKRD52 12 56648122 C A Detail
AutG2530 FUT8 14 66096265 C T 0.6408 deleterious Detail
AutG4363 ABCC1 16 16230394 G A Detail
AutG59269 HIVEP3 1 42046980 G A Detail
AutG79869 CPSF7 11 61187420 C T 0.173 neutral Detail
AutG54583 EGLN1 1 231506328 T C Detail
AutG284207 METRNL 17 81050796 C T Detail
AutG132612 ADAD1 4 123342540 G A 0.5706 deleterious Detail
AutG115399 LRRC56 11 551280 G A Detail
AutG2891 GRIA2 4 158262484 C T 0.5345 deleterious Detail
AutG10693 CCT6B 17 33266705 G A Detail
AutG169611 OLFML2A 9 127549361 T C Detail
AutG3614 IMPDH1 7 128040992 C T Detail
AutG5494 PPM1A 14 60712536 G T Detail
AutG7275 TUB 11 8122426 C T Detail
AutG84570 COL25A1 4 109762751 C T Detail
AutG84964 ALKBH6 19 36505106 A G Detail
AutG7392 USF2 19 35761322 G A Detail
AutG262 AMD1 6 111213267 G A Detail
AutG55610 CCDC132 7 92869270 G A Detail
AutG286238 LOC286238 9 91262282 A G Detail
23522KAT6B 10 76789588 A G 0.9811 deleterious Detail
AutG5470 PPEF2 4 76812814 G T 0.3768 neutral Detail
AutG2534 FYN 6 112015899 G A Detail
AutG169044 COL22A1 8 139833533 C T Detail
AutG2036 EPB41L1 20 34773214 C T 0.752 deleterious Detail
AutG6772 STAT1 2 191850362 C T 0.71 deleterious Detail
AutG23450 SF3B3 16 70578434 G A 0.998 deleterious Detail
AutG79663 HSPBAP1 3 122487519 C G Detail
AutG51493 RTCB 22 32804767 T A 0.8299 deleterious Detail
AutG6721 SREBF2 22 42294664 A G 0.0059 neutral Detail
AutG57719 ANO8 19 17441782 G A 0.8608 deleterious Detail
AutG26686 OR4E2 14 22133410 G A Detail
AutG7273 TTN 2 179396737 C T 0.1914 neutral Detail
AutG4281 MID1 X 10535273 G C Detail
AutG23026 MYO16 13 109817311 G A 0.9962 deleterious Detail
AutG5096 PCCB 3 136016845 G A 0.9793 deleterious Detail
AutG10181 RBM5 3 50154707 T C Detail
AutG342933 ZSCAN5B 19 56720024 G T Detail
AutG8603 FAM193A 4 2661708 G A 0.742 deleterious Detail
AutG25930 PTPN23 3 47437547 T C Detail
AutG29926 GMPPA 2 220367114 C T 0.2941 neutral Detail
AutG79809 TTC21B 2 166788316 T A Detail
AutG123283 TARSL2 15 102245954 C T Detail
AutG140775 SMCR8 17 18220895 C T 0.0406 neutral Detail
AutG6749 SSRP1 11 57099680 C G 0.9952 deleterious Detail
AutG63971 KIF13A 6 17809126 C T 0.8487 deleterious Detail
AutG51343 FZR1 19 3527699 G A 0.9992 deleterious Detail
AutG20 ABCA2 9 139905870 C T 0.2475 neutral Detail
AutG3681 ITGAD 16 31424461 G A Detail
AutG9453 GGPS1 1 235505485 G A 0.6642 deleterious Detail
AutG26013 L3MBTL1 20 42169759 T G 0.3042 deleterious Detail
AutG1634 DCN 12 91558512 G A Detail
AutG26151 NAT9 17 72769180 T G Detail
AutG79981 FRMD1 6 168462591 G A 0.0251 neutral Detail
AutG50831 TAS2R3 7 141464483 G T 0.0626 neutral Detail
AutG56907 SPIRE1 18 12496079 C T 0.0343 neutral Detail
AutG25963 TMEM87A 15 42528588 G A 0.607 deleterious Detail
AutG353299 RGSL1 1 182442891 C T Detail
AutG100616399 MIR4436A 2 89160476 C T Detail
AutG84067 FAM160A2 11 6239889 C T 0.7735 deleterious Detail
AutG84465 MEGF11 15 66198459 G A 0.4317 neutral Detail
AutG9019 MPZL1 1 167745396 C T 0.1398 neutral Detail
AutG57512 GPR158 10 25887707 A G 0.1342 neutral Detail
AutG1114 CHGB 20 5903482 G A 0.5125 deleterious Detail
AutG53904 MYO3A 10 26455055 C T 0.4409 neutral Detail
AutG152518 NFXL1 4 47900786 C A 0.9502 deleterious Detail
AutG9775 EIF4A3 17 78113792 G C Detail
AutG117283 IP6K3 6 33694623 C T Detail
AutG53630 BCO1 16 81295822 C T Detail
AutG55187 VPS13D 1 12428626 C T Detail
AutG126969 SLC44A3 1 95356667 C T Detail
AutG1826 DSCAM 21 41684236 G A 0.9051 deleterious Detail
AutG4035 LRP1 12 57605019 G A 0.2656 neutral Detail
AutG91584 PLXNA4 7 131913232 G A Detail
AutG23054 NCOA6 20 33330216 C T 0.7473 deleterious Detail
AutG90853 SPOCD1 1 32280023 G A Detail
AutG26271 FBXO5 6 153295985 C T Detail
AutG9651 PLCH2 1 2411622 G A Detail
AutG51253 MRPL37 1 54670919 G A Detail
AutG55255 WDR41 5 76728978 G A Detail
AutG22983 MAST1 19 12977649 G A Detail
AutG63035 BCORL1 X 129149138 G A 0.3901 deleterious Detail
AutG348180 CTU2 16 88779854 C T 0.7748 deleterious Detail
AutG2778 GNAS 20 57480424 G A Detail
AutG10324 KLHL41 2 170377387 G A 0.9882 deleterious Detail
AutG23304 UBR2 6 42613210 G A 0.5125 deleterious Detail
AutG83872 HMCN1 1 185833720 C T 0.0529 neutral Detail
AutG128077 LIX1L 1 145498680 C T Detail
AutG343171 OR2W3 1 248059630 G A 0.452 neutral Detail
AutG153469 JAKMIP2-AS1 5 147021187 A T Detail
AutG56265 CPXM1 20 2775267 C T 0.0953 neutral Detail
AutG23241 PACS2 14 105846133 C T Detail
AutG731 C8A 1 57347157 C T Detail
AutG84932 RAB2B 14 21943117 G T Detail
AutG84059 ADGRV1 5 90074209 G A Detail
AutG2638 GC 4 72629236 A G Detail
AutG57467 HHATL 3 42735111 C T 0.2226 neutral Detail
AutG4018 LPA 6 160998168 G A 0.0495 neutral Detail
AutG79065 ATG9A 2 220085973 G A 0.8274 deleterious Detail
AutG166793 ZBTB49 4 4303826 A T 0.9987 deleterious Detail
AutG10403 NDC80 18 2595619 C T 0.0975 neutral Detail
AutG84986 ARHGAP19 10 99024633 G A 0.5524 deleterious Detail
AutG101927973 LOC101927973 21 29615646 G A Detail
AutG10457 GPNMB 7 23296615 G A 0.8101 deleterious Detail
AutG2670 GFAP 17 42988056 C T Detail
AutG114780 PKD1L2 16 81134671 G A Detail
AutG2984 GUCY2C 12 14805939 C T 0.6226 deleterious Detail
AutG3720 JARID2 6 15374368 G A Detail
AutG25925 ZNF521 18 22807228 G A Detail
AutG11169 WDHD1 14 55467613 C T 0.0031 neutral Detail
AutG55218 EXD2 14 69701564 G C 0.9877 deleterious Detail
AutG84249 PSD2 5 139219740 C G 0.2056 neutral Detail
AutG4921 DDR2 1 162740230 C T 0.2952 neutral Detail
AutG7798 LUZP1 1 23419554 G A Detail
AutG90317 ZNF616 19 52633785 C A Detail
AutG7352 UCP3 11 73717289 G A Detail
AutG64816 CYP3A43 7 99457566 G A 0.0087 neutral Detail
AutG26091 HERC4 10 69718925 G A Detail
AutG84795 PYROXD2 10 100155122 G C Detail
AutG114792 KLHL32 6 97561801 C T 0.6898 deleterious Detail
AutG3781 KCNN2 5 113698851 C T Detail
AutG2735 GLI1 12 57865430 A G Detail
AutG2200 FBN1 15 48717681 G A Detail
AutG114899 C1QTNF3 5 34028963 G A 0.9493 deleterious Detail
AutG7915 ALDH5A1 6 24505151 G A 0.4536 neutral Detail
AutG309 ANXA6 5 150509024 C T 0.1034 neutral Detail
AutG221981 THSD7A 7 11485770 G A Detail
AutG3098 HK1 10 71158430 G A 0.0065 neutral Detail
AutG440993 LINC00969 3 195426077 T A Detail
AutG221060 C10orf111 10 15138814 G A Detail
AutG154796 AMOT X 112021879 G A Detail
AutG4281 MID1 X 10535432 G A Detail
AutG51434 ANAPC7 12 110820727 G A 0.3236 neutral Detail
AutG25942 SIN3A 15 75706487 C T Detail
AutG2103 ESRRB 14 76928944 C T 0.9775 deleterious Detail
AutG5339 PLEC 8 145008533 G A Detail
AutG2566 GABRG2 5 161522685 G A Detail
AutG100996295 DNAH17-AS1 17 76498818 G A Detail
AutG79784 MYH14 19 50783305 G T 0.4875 neutral Detail
AutG23705 CADM1 11 115102167 C T Detail
AutG23380 SRGAP2 1 206610355 G A Detail
AutG4627 MYH9 22 36716407 G A Detail
AutG157680 VPS13B 8 100791009 G A 0.0804 neutral Detail
AutG6336 SCN10A 3 38770255 C T Detail
576ADGRB2 1 32206984 A T 0.4455 neutral Detail
AutG23511 NUP188 9 131756681 C T 0.836 deleterious Detail
AutG2549 GAB1 4 144258315 C G Detail
AutG1571 CYP2E1 10 135345665 G A Detail
AutG4588 MUC6 11 1016288 G C 0.0062 neutral Detail
AutG7450 VWF 12 6094774 C T 0.4329 neutral Detail
AutG8755 ADAM6 14 106539261 G A Detail
AutG51031 GLOD4 17 663411 C T Detail
AutG2335 FN1 2 216235029 C G 0.4875 neutral Detail
AutG1826 DSCAM 21 41550838 G A Detail
AutG604 BCL6 3 187446290 T G Detail
AutG246175 CNOT6L 4 78665893 G A Detail
AutG8471 IRS4 X 107977583 C G Detail
AutG118429 ANTXR2 4 80954694 C T 0.1046 neutral Detail
AutG339745 SPOPL 2 139316934 G T Detail
AutG9900 SV2A 1 149881028 C G 0.6833 deleterious Detail
AutG5092 PCBD1 10 72645520 G A Detail
AutG2975 GTF3C1 16 27483259 G A Detail
AutG23457 ABCB9 12 123414608 G A Detail
AutG10594 PRPF8 17 1582562 G A Detail
AutG7402 UTRN 6 144783895 A G 0.642 deleterious Detail
AutG145942 TMCO5A 15 38233837 C T Detail
AutG138724 C9orf131 9 35042438 C T Detail
AutG23513 SCRIB 8 144895053 C G 0.9229 deleterious Detail
AutG56146 PCDHA2 5 140175208 C A 0.9993 deleterious Detail
AutG25844 YIPF3 6 43479853 C T Detail
AutG7058 THBS2 6 169621605 G A Detail
AutG54986 ULK4 3 41961295 G A 0.6235 deleterious Detail
AutG5858 PZP 12 9345317 T C 0.0777 neutral Detail
AutG8085 KMT2D 12 49433800 C G 0.9886 deleterious Detail
AutG9235 IL32 16 3117636 C T 0.111 neutral Detail
AutG83889 WDR87 19 38379997 T C Detail
AutG1786 DNMT1 19 10250926 G A 0.5125 deleterious Detail
AutG8499 PPFIA2 12 81769536 C T Detail
AutG2869 GRK5 10 121212266 C T Detail
AutG9810 RNF40 16 30776827 G T Detail
AutG2946 GSTM2 1 110210239 G A Detail
AutG10847 SRCAP 16 30740318 G A 0.1752 neutral Detail
AutG131450 CD200R1 3 112647684 G C 0.5995 deleterious Detail
AutG9627 SNCAIP 5 121761186 G A 0.8989 deleterious Detail
AutG210 ALAD 9 116151738 C T 0.2356 neutral Detail
AutG11212 PROSC 8 37632819 C T Detail
AutG22901 ARSG 17 66303587 G C Detail
AutG83394 PITPNM3 17 6387531 C T Detail
AutG10735 STAG2 X 123156440 A G Detail
AutG128272 ARHGEF19 1 16525147 G C 0.9777 deleterious Detail
AutG1131 CHRM3 1 240136378 G A Detail
AutG1213 CLTC 17 57743556 T A Detail
AutG2131 EXT1 8 118830706 C T 0.8884 deleterious Detail
AutG3157 HMGCS1 5 43298925 G A 0.9761 deleterious Detail
AutG154810 AMOTL1 11 94603879 G A Detail
AutG1756 DMD X 32509609 G A Detail
AutG114788 CSMD3 8 114449093 G C Detail
2 169853212 T G Detail
9 131599143 A G Detail
8 25364646 G T Detail
19 10250926 G A Detail
12 49937116 C T Detail
17 10354727 T G Detail
14 79434627 G A Detail
14 20389721 G A Detail
6 43109472 G A Detail
2 166788316 T A Detail
11 57466083 G A Detail
1 10402235 C G Detail
2 32690189 A G Detail
2 109961258 A G Detail
2 191302072 C T Detail
3 14960293 C T Detail
3 102196241 A G Detail
3 151150462 G A Detail
3 197748355 G A Detail
5 135369385 G A Detail
6 102247525 T C Detail
7 124290632 A G Detail
8 38107393 G A Detail
8 142148158 C T Detail
10 124350983 T G Detail
11 43861493 A G Detail
15 75122518 G A Detail
16 34739717 C G Detail
17 1561694 C T Detail
19 47844626 C T Detail
19 54734002 T C Detail

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018