AutismKB 2.0

View Mosaic Variants from PubMed ID: 28867142


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
AutG85452 CFAP74 1 1900192 C T 0.0173 neutral Detail
AutG339448 C1orf174 1 3806547 C T 0.4511 neutral Detail
AutG55187 VPS13D 1 12428626 C T Detail
AutG7709 ZBTB17 1 16269685 C T 0.0318 neutral Detail
AutG57576 KIF17 1 21031010 G A Detail
AutG3925 STMN1 1 26228141 A G Detail
AutG5511 PPP1R8 1 28169828 G A Detail
AutG7802 DNALI1 1 38023331 A G 0.3708 neutral Detail
AutG23499 MACF1 1 39784265 C T 0.3202 neutral Detail
AutG23499 MACF1 1 39903616 G A Detail
AutG8438 RAD54L 1 46726433 G A 0.9614 deleterious Detail
AutG731 C8A 1 57347157 C T Detail
AutG55277 FGGY 1 60106970 T G 0.007 neutral Detail
AutG23032 USP33 1 78163012 C T 0.0906 neutral Detail
AutG9557 CHD1L 1 146728216 C T 0.056 neutral Detail
AutG55249 YY1AP1 1 155630566 G C 0.0929 neutral Detail
AutG4209 MEF2D 1 156452416 C T 0.9983 deleterious Detail
AutG89886 SLAMF9 1 159922117 C T 0.9552 deleterious Detail
AutG59349 KLHL12 1 202880289 C T 0.9631 deleterious Detail
AutG26750 RPS6KC1 1 213302953 C A 0.1177 neutral Detail
AutG55061 SUSD4 1 223465897 C T 0.2137 neutral Detail
AutG84288 EFCAB2 1 245250572 G T 0.1287 neutral Detail
AutG5496 PPM1G 2 27604615 T C 0.9723 deleterious Detail
AutG1329 COX5B 2 98263555 G A Detail
AutG53353 LRP1B 2 141291600 T C Detail
AutG55777 MBD5 2 149243456 A G Detail
AutG4703 NEB 2 152543981 G A Detail
AutG29994 BAZ2B 2 160239207 G A Detail
AutG6326 SCN2A 2 166211152 A T 0.889 deleterious Detail
AutG8647 ABCB11 2 169853212 T G 0.9947 deleterious Detail
AutG7273 TTN 2 179605302 G T 0.0256 neutral Detail
AutG316 AOX1 2 201464413 C T 0.5919 deleterious Detail
AutG79065 ATG9A 2 220085973 G A 0.8274 deleterious Detail
AutG116255 MOGAT1 2 223554125 T C 0.5568 deleterious Detail
AutG1285 COL4A3 2 228120751 G A 0.9964 deleterious Detail
AutG11262 SP140 2 231103053 G T 0.0166 neutral Detail
AutG547 KIF1A 2 241724471 C T 0.8586 deleterious Detail
AutG728294 D2HGDH 2 242684178 A G 0.5374 deleterious Detail
AutG10752 CHL1 3 386367 C G 0.0159 neutral Detail
AutG79885 HDAC11 3 13522828 A T 0.3631 neutral Detail
AutG152273 FGD5 3 14960293 C T Detail
AutG9940 DLEC1 3 38105382 C A 0.0718 neutral Detail
AutG9389 SLC22A14 3 38349069 C T Detail
AutG6336 SCN10A 3 38770255 C T Detail
AutG1499 CTNNB1 3 41274877 G A 0.9612 deleterious Detail
AutG1232 CCR3 3 46307288 C T Detail
AutG4134 MAP4 3 47918907 C T Detail
AutG389170 LEKR1 3 156570593 G A 0.0581 neutral Detail
AutG151827 LRRC34 3 169513985 T A 0.3347 neutral Detail
AutG1962 EHHADH 3 184910031 G A 0.0727 neutral Detail
AutG9076 CLDN1 3 190030680 A C Detail
AutG200958 MUC20 3 195456546 G C 0.1354 neutral Detail
AutG1739 DLG1 3 197023283 G A Detail
AutG84859 LRCH3 3 197562676 C T 0.9817 deleterious Detail
AutG54872 PIGG 4 499570 C T Detail
AutG5158 PDE6B 4 652788 C T Detail
AutG683 BST1 4 15707209 C A 0.9767 deleterious Detail
AutG27146 FAM184B 4 17706804 G A 0.0394 neutral Detail
AutG57495 NWD2 4 37446620 C A 0.2446 neutral Detail
AutG323 APBB2 4 40818170 C G 0.8729 deleterious Detail
AutG166815 TIGD2 4 90034383 G T 0.9711 deleterious Detail
AutG22915 MMRN1 4 90874301 C T 0.7103 deleterious Detail
AutG1062 CENPE 4 104066794 C T Detail
AutG54790 TET2 4 106180819 G T 0.9332 deleterious Detail
AutG987 LRBA 4 151749715 G T 0.1394 neutral Detail
AutG2743 GLRB 4 158091801 G A 0.9857 deleterious Detail
AutG55601 DDX60 4 169195105 C G 0.103 neutral Detail
AutG90268 OTULIN 5 14693136 G T Detail
AutG29102 DROSHA 5 31406995 G A Detail
AutG23037 PDZD2 5 32074487 G A 0.0035 neutral Detail
AutG114899 C1QTNF3 5 34043091 G A 0.4003 neutral Detail
AutG5019 OXCT1 5 41850175 T C 0.9974 deleterious Detail
AutG4437 MSH3 5 80169078 G A 0.6496 deleterious Detail
AutG5066 PAM 5 102295584 C G 0.995 deleterious Detail
AutG64097 EPB41L4A 5 111506680 G A Detail
AutG84249 PSD2 5 139219740 C G 0.2056 neutral Detail
AutG83697 SLC4A9 5 139750705 G A 0.9145 deleterious Detail
AutG3340 NDST1 5 149912558 T C 0.9475 deleterious Detail
AutG2566 GABRG2 5 161524765 C T 0.8666 deleterious Detail
AutG6586 SLIT3 5 168678421 G A Detail
AutG153222 CREBRF 5 172550144 A G Detail
AutG56940 DUSP22 6 345911 G C 0.2232 neutral Detail
AutG7407 VARS 6 31749930 C G Detail
AutG117283 IP6K3 6 33694623 C T Detail
AutG3159 HMGA1 6 34208681 G A 0.0969 neutral Detail
AutG340204 CLPSL1 6 35755695 A G 0.002 neutral Detail
AutG29964 PRICKLE4 6 41751917 G C 0.0223 neutral Detail
AutG647024 C6orf132 6 42073489 C T 0.105 neutral Detail
AutG54511 HMGCLL1 6 55364076 G C Detail
AutG3617 IMPG1 6 76660802 C T Detail
AutG6885 MAP3K7 6 91226345 G A 0.868 deleterious Detail
AutG2534 FYN 6 112015899 G A Detail
AutG135250 RAET1E 6 150211107 C A 0.143 neutral Detail
AutG389434 IYD 6 150710567 G C 0.852 deleterious Detail
AutG23345 SYNE1 6 152782817 G A 0.754 deleterious Detail
AutG79683 ZDHHC14 6 158014147 C T Detail
AutG56995 TULP4 6 158735185 T C 0.9965 deleterious Detail
AutG4018 LPA 6 160998168 G A 0.0495 neutral Detail
AutG7058 THBS2 6 169628245 G A Detail
AutG221981 THSD7A 7 11485770 G A Detail
AutG10457 GPNMB 7 23296615 G A 0.8101 deleterious Detail
AutG5137 PDE1C 7 31855578 G T 0.1524 neutral Detail
AutG51314 NME8 7 37889860 A T Detail
AutG3092 HIP1 7 75177092 C T 0.6824 deleterious Detail
AutG51657 STYXL1 7 75625830 T C 0.0201 neutral Detail
AutG1021 CDK6 7 92355021 C T Detail
AutG1278 COL1A2 7 94042413 G C 0.9998 deleterious Detail
AutG4885 NPTX2 7 98256629 G T Detail
AutG7036 TFR2 7 100229477 C A 0.6617 deleterious Detail
AutG51412 ACTL6B 7 100252651 G A Detail
AutG5649 RELN 7 103130237 C T 0.9949 deleterious Detail
AutG91584 PLXNA4 7 131825445 G A 0.9916 deleterious Detail
AutG57189 KIAA1147 7 141385372 G T 0.7345 deleterious Detail
AutG7791 ZYX 7 143079777 G A 0.4064 neutral Detail
58508KMT2C 7 151836804 G C 0.6681 deleterious Detail
AutG11212 PROSC 8 37623828 C A 0.997 deleterious Detail
AutG80243 PREX2 8 69020350 C T 0.7955 deleterious Detail
AutG26986 PABPC1 8 101719145 C T 0.3885 neutral Detail
AutG2131 EXT1 8 118830706 C T 0.8884 deleterious Detail
AutG93594 TBC1D31 8 124142531 G A Detail
AutG83481 EPPK1 8 144940414 G A Detail
AutG50626 CYHR1 8 145677925 C T 0.8718 deleterious Detail
AutG6595 SMARCA2 9 2076312 T A 0.0831 neutral Detail
AutG6194 RPS6 9 19378427 G A Detail
AutG768 CA9 9 35680802 G A Detail
AutG138199 C9orf41 9 77599844 C T Detail
AutG5998 RGS3 9 116267745 C T Detail
AutG2022 ENG 9 130587537 G A Detail
AutG54461 FBXW5 9 139835997 G A Detail
AutG774 CACNA1B 9 140777199 G T 0.9905 deleterious Detail
AutG57512 GPR158 10 25510055 G T 0.995 deleterious Detail
AutG53904 MYO3A 10 26455055 C T 0.4409 neutral Detail
AutG29119 CTNNA3 10 69366755 C G 0.9818 deleterious Detail
AutG3778 KCNMA1 10 78870005 C T 0.2286 neutral Detail
AutG84986 ARHGAP19 10 99024633 G A 0.5524 deleterious Detail
AutG1244 ABCC2 10 101594216 T C 0.9195 deleterious Detail
AutG120 ADD3 10 111872568 G A 0.9657 deleterious Detail
AutG1755 DMBT1 10 124345854 T A 0.0054 neutral Detail
AutG1755 DMBT1 10 124351801 T C Detail
AutG56547 MMP26 11 5011021 C A 0.2405 neutral Detail
AutG3746 KCNC1 11 17793358 C T Detail
AutG259249 MRGPRX1 11 18956116 G C 0.9342 deleterious Detail
AutG55226 NAT10 11 34154632 T C Detail
AutG960 CD44 11 35227734 T C 0.0127 neutral Detail
AutG390168 OR5M1 11 56380550 A C 0.0132 neutral Detail
AutG6749 SSRP1 11 57102018 C T Detail
AutG9789 SPCS2 11 74660408 C A Detail
AutG28971 AAMDC 11 77580840 C T Detail
AutG24145 PANX1 11 93913089 C T Detail
AutG143884 CWF19L2 11 107300102 G T Detail
AutG23085 ERC1 12 1345953 T C Detail
AutG1108 CHD4 12 6710567 C T Detail
AutG359787 DPPA3 12 7864175 A C Detail
AutG144195 SLC2A14 12 7970433 A G Detail
AutG2984 GUCY2C 12 14805939 C T 0.6226 deleterious Detail
AutG54477 PLEKHA5 12 19522658 G A Detail
AutG338821 SLCO1B7 12 21200105 G A Detail
AutG80070 ADAMTS20 12 43770053 C A Detail
AutG8085 KMT2D 12 49433800 C G 0.9886 deleterious Detail
41ASIC1 12 50471866 G A 0.9997 deleterious Detail
AutG3889 KRT83 12 52710275 C T 0.7289 deleterious Detail
AutG3071 NCKAP1L 12 54929978 C T 0.3345 neutral Detail
AutG506 ATP5B 12 57033938 G A Detail
AutG9958 USP15 12 62749154 T G Detail
AutG3034 HAL 12 96374614 C A 0.2694 neutral Detail
AutG57634 EP400 12 132516561 C T 0.421 neutral Detail
221154MICU2 13 22077136 G A 0.7658 deleterious Detail
AutG56163 RNF17 13 25373552 C A 0.0319 neutral Detail
AutG4093 SMAD9 13 37447001 C A 0.9718 deleterious Detail
AutG55901 THSD1 13 52952708 T C 0.2958 neutral Detail
AutG27253 PCDH17 13 58240856 G A 0.9463 deleterious Detail
AutG81624 DIAPH3 13 60548519 C T Detail
AutG55757 UGGT2 13 96506641 T A 0.8323 deleterious Detail
AutG23250 ATP11A 13 113516804 C T 0.68 deleterious Detail
AutG390431 OR4K2 14 20344642 T G Detail
AutG9472 AKAP6 14 33201692 G A Detail
AutG253959 RALGAPA1 14 36207803 G A Detail
AutG10175 CNIH1 14 54897061 C T 0.8409 deleterious Detail
AutG23002 DAAM1 14 59791152 C T Detail
AutG55218 EXD2 14 69701564 G C 0.9877 deleterious Detail
AutG55640 FLVCR2 14 76045663 C T Detail
AutG9369 NRXN3 14 79434627 G A 0.9232 deleterious Detail
AutG79890 RIN3 14 93081784 G A 0.8916 deleterious Detail
AutG5641 LGMN 14 93170685 G A Detail
AutG57578 UNC79 14 94129046 C T Detail
AutG5330 PLCB2 15 40590077 C T Detail
AutG23005 MAPKBP1 15 42116026 G T 0.0027 neutral Detail
AutG2200 FBN1 15 48717681 G A Detail
AutG23312 DMXL2 15 51791966 T C 0.1888 neutral Detail
AutG1106 CHD2 15 93467760 A G 0.9189 deleterious Detail
AutG123283 TARSL2 15 102242560 G A 0.7918 deleterious Detail
AutG10921 RNPS1 16 2312406 G C Detail
AutG23524 SRRM2 16 2818164 T A Detail
AutG29066 ZC3H7A 16 11876164 T A 0.9057 deleterious Detail
AutG4629 MYH11 16 15835377 C T Detail
AutG112755 STX1B 16 31004756 G A 0.4223 neutral Detail
AutG79801 SHCBP1 16 46615744 G A 0.149 neutral Detail
AutG55066 PDPR 16 70190680 A G Detail
AutG53630 BCO1 16 81295822 C T Detail
AutG55720 TSR1 17 2227665 G A 0.9884 deleterious Detail
AutG51168 MYO15A 17 18039050 T C 0.9305 deleterious Detail
AutG10693 CCT6B 17 33266705 G A Detail
AutG26574 AATF 17 35413915 G A 0.8094 deleterious Detail
AutG8396 PIP4K2B 17 36927464 C T 0.8624 deleterious Detail
AutG3881 KRT31 17 39551197 G A 0.9348 deleterious Detail
AutG124535 HSF5 17 56536222 C T 0.1291 neutral Detail
AutG85302 FBF1 17 73906883 C G 0.5485 deleterious Detail
AutG3607 FOXK2 17 80559225 G A Detail
AutG7525 YES1 18 756622 G A 0.784 deleterious Detail
AutG4729 NDUFV2 18 9122553 G A 0.8098 deleterious Detail
AutG29919 C18orf8 18 21100180 C A 0.1291 neutral Detail
AutG57724 EPG5 18 43535061 G A 0.0562 neutral Detail
AutG498 ATP5A1 18 43669564 C T Detail
AutG10892 MALT1 18 56400687 C T Detail
AutG54531 MIER2 19 326548 C T 0.2443 neutral Detail
AutG51343 FZR1 19 3527699 G A 0.9992 deleterious Detail
AutG55702 CCDC94 19 4251122 G A 0.965 deleterious Detail
AutG50509 COL5A3 19 10087238 G A 0.1874 neutral Detail
AutG50509 COL5A3 19 10092741 C T Detail
AutG57719 ANO8 19 17441782 G A 0.8608 deleterious Detail
AutG23025 UNC13A 19 17720779 C T Detail
AutG23025 UNC13A 19 17768899 C G 0.4526 neutral Detail
AutG933 CD22 19 35832660 G A Detail
AutG339324 ZNF260 19 37005943 T G Detail
AutG83889 WDR87 19 38379997 T C Detail
AutG79934 ADCK4 19 41206317 G A Detail
AutG23211 ZC3H4 19 47584864 T A 0.9553 deleterious Detail
AutG56344 CABP5 19 48542567 G A Detail
AutG79784 MYH14 19 50753076 G A 0.5125 deleterious Detail
AutG79784 MYH14 19 50783305 G T 0.4875 neutral Detail
AutG255043 TMEM86B 19 55739655 A G 0.0217 neutral Detail
AutG342933 ZSCAN5B 19 56701754 C G 0.0104 neutral Detail
AutG57573 ZNF471 19 57035824 C A 0.0381 neutral Detail
AutG56265 CPXM1 20 2775947 G A Detail
AutG65992 DDRGK1 20 3181055 G A 0.4348 neutral Detail
AutG58495 OVOL2 20 18005484 C A 0.08 neutral Detail
AutG23054 NCOA6 20 33330216 C T 0.7473 deleterious Detail
AutG57468 SLC12A5 20 44681697 G A 0.9941 deleterious Detail
AutG6874 TAF4 20 60589640 G C 0.6841 deleterious Detail
AutG26164 MTG2 20 60772988 T A 0.2602 neutral Detail
AutG4047 LSS 21 47628169 C T 0.0266 neutral Detail
AutG4627 MYH9 22 36716407 G A Detail
AutG1756 DMD X 32383221 C T Detail
AutG1184 CLCN5 X 49834668 C T 0.831 deleterious Detail
AutG5456 POU3F4 X 82764282 T C 0.9532 deleterious Detail
10178TENM1 X 123517756 T C 0.3672 neutral Detail
AutG3547 IGSF1 X 130419865 C A 0.2587 neutral 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