AutismKB 2.0

View de novo Variants from PubMed ID: 29346770


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
AutG84069PLEKHN1 1 905674 synonymous_variant G A c.201G>A p.Glu67Glu Not_tested
AutG375790AGRN 1 955717 synonymous_variant C T c.165C>T p.Leu55Leu Not_tested
AutG375790AGRN 1 980641 frameshift_variant CCTGGCTGG C c.2359_2366delGCTGGCTG p.Ala787fs Sanger sequencing
AutG83858ATAD3B 1 1425957 missense_variant C T c.1520C>T p.Ala507Val Not_tested 0.0078 neutral
AutG261734NPHP4 1 5935138 missense_variant T C c.2840A>G p.Gln947Arg Not_tested 0.4932 neutral
AutG26038CHD5 1 6202253 synonymous_variant G T c.2371C>A p.Arg791Arg Not_tested
AutG2023ENO1 1 8931983 missense_variant G A c.148C>T p.Arg50Trp Not_tested 0.9988 deleterious
AutG2475MTOR 1 11316137 missense_variant C T c.617G>A p.Arg206His Not_tested 0.9882 deleterious
AutG23013SPEN 1 16262656 synonymous_variant G C c.9921G>C p.Arg3307Arg Not_tested
AutG1187CLCNKA 1 16352629 missense_variant A G c.385A>G p.Met129Val Not_tested 0.2619 neutral
AutG9696CROCC 1 17272061 missense_variant T C c.2096T>C p.Leu699Pro Not_tested 0.9229 deleterious
AGO4 1 36307019 missense_variant C T c.1978C>T p.Arg660Cys Not_tested 0.9944 deleterious
AGO1 1 36359358 missense_variant G T c.596G>T p.Gly199Val Not_tested 0.987 deleterious
AutG23499MACF1 1 39917969 frameshift_variant GT G c.20672delT p.Val6891fs Sanger sequencing
AutG1376CPT2 1 53676213 synonymous_variant A G c.867A>G p.Ala289Ala Not_tested
AutG148979GLIS1 1 53974866 synonymous_variant G A c.1632C>T p.Val544Val Not_tested
AutG55635DEPDC1 1 68949730 synonymous_variant A G c.813T>C p.Phe271Phe Not_tested
AutG431707LHX8 1 75602329 synonymous_variant C T c.60C>T p.Ala20Ala Not_tested
AutG55119PRPF38B 1 109242140 frameshift_variant AAGAG A c.1146_1149delAGAG p.Arg382fs Not_tested
AutG23126POGZ 1 151378393 missense_variant C T c.3118G>A p.Glu1040Lys Sanger sequencing 0.8927 deleterious
AutG6700SPRR2A 1 153029019 missense_variant A G c.193T>C p.Ser65Pro Not_tested 0.0001 neutral
AutG5087PBX1 1 164769051 missense_variant G C c.626G>C p.Ser209Thr Not_tested 0.9404 deleterious
AutG92241RCSD1 1 167654679 synonymous_variant C A c.130C>A p.Arg44Arg Not_tested
AutG6403SELP 1 169576253 missense_variant C G c.1453G>C p.Val485Leu Not_tested 0.2831 neutral
TRMT1L 1 185109103 splice_donor_variant&intron_variant AC A c.1109+1delG NA Sanger sequencing
AutG25782RAB3GAP2 1 220363844 stop_gained A C c.1506T>G p.Tyr502* Not_tested
AutG80232WDR26 1 224599157 missense_variant G C c.1130C>G p.Thr377Arg Not_tested 0.3756 neutral
AutG25909AHCTF1 1 247014152 missense_variant T C c.5261A>G p.Gln1754Arg Not_tested 0.0326 neutral
AutG348738C2orf48 2 10350638 missense_variant A C c.395A>C p.Lys132Thr Not_tested 0.0168 neutral
AutG9378NRXN1 2 51255348 missense_variant C G c.64G>C p.Gly22Arg Not_tested 0.5385 deleterious
AutG9736USP34 2 61415298 missense_variant A G c.10580T>C p.Ile3527Thr Not_tested 0.7163 deleterious
AutG23020SNRNP200 2 96944354 missense_variant C T c.5419G>A p.Glu1807Lys Not_tested 0.9195 deleterious
AutG4175MCM6 2 136626351 missense_variant G A c.445C>T p.Pro149Ser Sanger sequencing 0.9985 deleterious
AutG80731THSD7B 2 138375981 synonymous_variant G A c.3594G>A p.Leu1198Leu Not_tested
AutG90134KCNH7 2 163241305 missense_variant A C c.2855T>G p.Ile952Arg Not_tested 0.1627 neutral
AutG65977PLEKHA3 2 179358628 missense_variant G A c.362G>A p.Arg121His Not_tested 0.9107 deleterious
AutG7273TTN 2 179428473 synonymous_variant C T c.82386G>A p.Thr27462Thr Not_tested
AutG84128WDR75 2 190313139 missense_variant G A c.121G>A p.Val41Ile Not_tested 0.2043 neutral
AutG56171DNAH7 2 196891487 missense_variant T C c.664A>G p.Ile222Val Not_tested 0.0419 neutral
AutG65065NBEAL1 2 203949293 splice_donor_variant&intron_variant G T c.1098+1G>T NA Sanger sequencing
AutG2335FN1 2 216239958 missense_variant C T c.6136G>A p.Val2046Ile Not_tested 0.4875 neutral
AutG9320TRIP12 2 230663998 splice_donor_variant&intron_variant C G c.3226+1G>C NA Sanger sequencing
AutG9320TRIP12 2 230667043 missense_variant G A c.3050C>T p.Thr1017Ile Sanger sequencing 0.0748 neutral
AutG9320TRIP12 2 230668934 frameshift_variant GA G c.2578delT p.Ser860fs Sanger sequencing
AutG23677SH3BP4 2 235951884 frameshift_variant&stop_gained&splice_region_variant T TTG c.2474_2475dupTG p.Met826fs Sanger sequencing
AutG2859GPR35 2 241569791 missense_variant G T c.515G>T p.Trp172Leu Sanger sequencing 0.9323 deleterious
AutG64090GAL3ST2 2 242743557 synonymous_variant G A c.1173G>A p.Lys391Lys Not_tested
AutG100526693ARPC4-TTLL3 3 9870992 synonymous_variant C T c.1650C>T p.Gly550Gly Not_tested
AutG491ATP2B2 3 10381972 stop_gained C T c.3191G>A p.Trp1064* Sanger sequencing
AutG491ATP2B2 3 10392130 stop_gained G T c.2268C>A p.Cys756* Sanger sequencing
AutG85443DCLK3 3 36759633 missense_variant C T c.1621G>A p.Val541Met Sanger sequencing 0.9181 deleterious
AutG165904XIRP1 3 39226658 frameshift_variant T TG c.4278dupC p.Lys1427fs Sanger sequencing
AutG1294COL7A1 3 48611123 synonymous_variant C T c.6573G>A p.Pro2191Pro Not_tested
AutG11070TMEM115 3 50396002 missense_variant G C c.493C>G p.Arg165Gly Not_tested 0.9763 deleterious
AutG55349CHDH 3 53857760 synonymous_variant C T c.276G>A p.Ala92Ala Not_tested
AutG2042EPHA3 3 89480428 missense_variant C A c.2265C>A p.Asn755Lys Sanger sequencing 0.0609 neutral
AutG79310OR5H2 3 98002470 missense_variant G A c.739G>A p.Gly247Arg Not_tested 0.0861 neutral
AutG64332NFKBIZ 3 101574022 missense_variant T G c.1560T>G p.Cys520Trp Sanger sequencing 0.0032 neutral
AutG54437SEMA5B 3 122646805 missense_variant G A c.844C>T p.Arg282Cys Sanger sequencing 0.8801 deleterious
AutG166348KBTBD12 3 127703015 missense_variant A G c.1766A>G p.Asn589Ser Not_tested 0.2359 neutral
AutG55764IFT122 3 129185800 missense_variant A G c.784A>G p.Ile262Val Not_tested 0.0052 neutral
AutG23129PLXND1 3 129289671 synonymous_variant G A c.3708C>T p.Val1236Val Not_tested
AutG10274STAG1 3 136139953 missense_variant C A c.2090G>T p.Arg697Leu Not_tested 0.2555 neutral
AutG4311MME 3 154834771 missense_variant T C c.650T>C p.Ile217Thr Not_tested 0.9997 deleterious
AutG5290PIK3CA 3 178947865 protein_protein_contact G A c.2740G>A NA Not_tested 0.9073 deleterious
AutG5290PIK3CA 3 178952088 missense_variant A G c.3143A>G p.His1048Arg Not_tested 0.9073 deleterious
AutG64110MAGEF1 3 184429025 synonymous_variant C A c.585G>T p.Arg195Arg Not_tested
AutG84179MFSD7 4 675887 missense_variant C G c.1543G>C p.Ala515Pro Not_tested 0.005 neutral
AutG91050CCDC149 4 24810027 missense_variant C T c.1574G>A p.Ser525Asn Not_tested 0.0102 neutral
AutG7345UCHL1 4 41259002 synonymous_variant C G c.9C>G p.Leu3Leu Not_tested
AutG2555GABRA2 4 46307662 missense_variant G A c.626C>T p.Ala209Val Not_tested 0.8666 deleterious
AutG2560GABRB1 4 47405626 missense_variant T C c.733T>C p.Tyr245His Sanger sequencing 0.8666 deleterious
AutG6731SRP72 4 57337973 synonymous_variant G A c.318G>A p.Gln106Gln Not_tested
AutG27306HPGDS 4 95220705 missense_variant T A c.526A>T p.Thr176Ser Not_tested 0.0369 neutral
AutG79807GSTCD 4 106640339 synonymous_variant T C c.549T>C p.Leu183Leu Not_tested
AutG79071ELOVL6 4 110980766 synonymous_variant G A c.366C>T p.Pro122Pro Not_tested
AutG8654PDE5A 4 120428769 synonymous_variant G A c.2179C>T p.Leu727Leu Not_tested
AutG57575PCDH10 4 134073761 missense_variant G C c.2466G>C p.Gln822His Sanger sequencing 0.828 deleterious
AutG80155NAA15 4 140262083 frameshift_variant CT C c.264delT p.Leu89fs Sanger sequencing
AutG27236ARFIP1 4 153750873 frameshift_variant&splice_region_variant AAT A c.90_91delTA p.Asn30fs Sanger sequencing
AutG80014WWC2 4 184182236 frameshift_variant ACTTC A c.1465_1468delCTTC p.Leu489fs Sanger sequencing
PRIMPOL 4 185587102 missense_variant G A c.440G>A p.Gly147Asp Not_tested 0.0377 neutral
AutG116349C5orf55 5 442755 synonymous_variant G T c.183C>A p.Ser61Ser Not_tested
AutG7204TRIO 5 14143965 missense_variant C T c.131C>T p.Ala44Val Not_tested 0.1329 neutral
AutG65250C5orf42 5 37169237 frameshift_variant C CT c.6888dupA p.Glu2297fs Sanger sequencing
MROH2B 5 41064614 synonymous_variant C T c.420G>A p.Arg140Arg Not_tested
AutG23517SKIV2L2 5 54649092 stop_gained C T c.1528C>T p.Arg510* Sanger sequencing
AutG10087COL4A3BP 5 74801861 missense_variant A C c.561T>G p.Asp187Glu Not_tested 0.0206 neutral
AutG10184LHFPL2 5 77805897 missense_variant G C c.140C>G p.Ala47Gly Not_tested 0.0104 neutral
AutG64848YTHDC2 5 112878139 synonymous_variant A G c.1434A>G p.Leu478Leu Not_tested
AutG100302736TMED7-TICAM2 5 114916409 missense_variant C T c.1052G>A p.Arg351Gln Not_tested 0.0637 neutral
AutG56099PCDHGB7 5 140799782 missense_variant A C c.2356A>C p.Met786Leu Not_tested 0.0156 neutral
AutG2760GM2A 5 150646399 missense_variant G A c.351G>A p.Met117Ile Not_tested 0.0687 neutral
AutG10146G3BP1 5 151180332 missense_variant G A c.1096G>A p.Val366Met Not_tested 0.0742 neutral
AutG10569SLU7 5 159831501 synonymous_variant T C c.1527A>G p.Arg509Arg Not_tested
AutG2566GABRG2 5 161522557 missense_variant G A c.316G>A p.Ala106Thr Not_tested 0.7671 deleterious
AutG117608ZNF354B 5 178310216 missense_variant T C c.763T>C p.Ser255Pro Not_tested 0.1524 neutral
AutG2762GMDS 6 1961168 synonymous_variant G A c.378C>T p.Asp126Asp Not_tested
AutG10048RANBP9 6 13625977 missense_variant G A c.1967C>T p.Ala656Val Sanger sequencing 0.9959 deleterious
AutG8831SYNGAP1 6 33409439 stop_gained C T c.2197C>T p.Gln733* Sanger sequencing
AutG54887UHRF1BP1 6 34826068 synonymous_variant T C c.1935T>C p.His645His Not_tested
AutG4337MOCS1 6 39902097 missense_variant G C c.60C>G p.Ser20Arg Not_tested 0.4875 neutral
AutG647024C6orf132 6 42072671 missense_variant G T c.2979C>A p.Ser993Arg Not_tested 0.7684 deleterious
AutG647024C6orf132 6 42072672 missense_variant C T c.2978G>A p.Ser993Asn Not_tested 0.3952 neutral
AutG5528PPP2R5D 6 42975003 missense_variant G A c.592G>A p.Glu198Lys Sanger sequencing 0.4696 neutral
AutG860RUNX2 6 45459840 missense_variant G A c.1052G>A p.Ser351Asn Not_tested 0.0865 neutral
AutG401265KLHL31 6 53519591 synonymous_variant A G c.480T>C p.Ser160Ser Not_tested
AutG57231SNX14 6 86303351 missense_variant G C c.86C>G p.Pro29Arg Sanger sequencing 0.5207 deleterious
AutG10559SLC35A1 6 88210320 missense_variant G T c.289G>T p.Val97Leu Not_tested 0.992 deleterious
AutG57673BEND3 6 107419781 missense_variant C T c.214G>A p.Val72Met Not_tested 0.8119 deleterious
AutG93663ARHGAP18 6 129963090 stop_gained G A c.187C>T p.Arg63* Sanger sequencing
AutG154043CNKSR3 6 154727786 splice_acceptor_variant&intron_variant CCT C c.1370-2_1370-1delAG NA Sanger sequencing
AutG4301MLLT4 6 168298969 missense_variant G A c.1399G>A p.Ala467Thr Sanger sequencing 0.8756 deleterious
AutG54919HEATR2 7 801482 synonymous_variant C T c.1563C>T p.Asp521Asp Not_tested
AutG84629TNRC18 7 5348876 missense_variant T C c.8512A>G p.Ile2838Val Not_tested 0.4172 neutral
AutG392862GRID2IP 7 6550619 frameshift_variant T TG c.1474dupC p.Gln492fs Sanger sequencing
AutG30010NXPH1 7 8790890 missense_variant A G c.307A>G p.Arg103Gly Sanger sequencing 0.9909 deleterious
AutG5898RALA 7 39726339 protein_protein_contact G A c.73G>A NA Sanger sequencing 0.9998 deleterious
AutG816CAMK2B 7 44259671 missense_variant G A c.1991C>T p.Pro664Leu Sanger sequencing 0.289 neutral
AutG27445PCLO 7 82544191 missense_variant T C c.13111A>G p.Met4371Val Not_tested 0.6522 deleterious
AutG1278COL1A2 7 94039077 missense_variant C T c.979C>T p.Arg327Cys Not_tested 0.9375 deleterious
AutG3912LAMB1 7 107569954 stop_gained G A c.4720C>T p.Arg1574* Sanger sequencing
AutG4233MET 7 116398602 missense_variant G A c.2192G>A p.Arg731Gln Not_tested 0.5103 deleterious
AutG2318FLNC 7 128478444 missense_variant G T c.1171G>T p.Val391Leu Not_tested 0.7819 deleterious
AutG23008KLHDC10 7 129736794 missense_variant G A c.200G>A p.Arg67Lys Not_tested 0.7239 deleterious
AutG90459ERI1 8 8873831 splice_acceptor_variant&intron_variant G A c.499-1G>A NA Sanger sequencing
AutG55636CHD7 8 61774804 missense_variant G A c.7880G>A p.Arg2627Gln Not_tested 0.9801 deleterious
AutG85444LRRCC1 8 86048065 synonymous_variant G A c.2196G>A p.Lys732Lys Not_tested
AutG389677RBM12B 8 94746964 stop_gained G A c.1675C>T p.Arg559* Sanger sequencing
AutG4147MATN2 8 98991194 missense_variant C T c.1039C>T p.His347Tyr Not_tested 0.1068 neutral
AutG114788CSMD3 8 113649210 missense_variant T A c.3551A>T p.Asp1184Val Sanger sequencing 0.9865 deleterious
AutG8667EIF3H 8 117669454 missense_variant&splice_region_variant G A c.599C>T p.Ala200Val Not_tested 0.785 deleterious
AutG7373COL14A1 8 121211702 synonymous_variant A C c.774A>C p.Gly258Gly Not_tested
AutG22898DENND3 8 142170768 missense_variant G A c.1234G>A p.Ala412Thr Not_tested 0.018 neutral
AutG575BAI1 8 143592361 missense_variant A G c.2744A>G p.Asp915Gly Not_tested
AutG5339PLEC 8 144995036 missense_variant C G c.9364G>C p.Glu3122Gln Sanger sequencing 0.0855 neutral
AutG90990KIFC2 8 145693250 synonymous_variant G A c.690G>A p.Thr230Thr Not_tested
AutG25769SLC24A2 9 19619608 missense_variant A T c.1052T>A p.Ile351Lys Not_tested 0.9997 deleterious
FAM219A 9 34401083 missense_variant T A c.437A>T p.Asp146Val Sanger sequencing 0.9849 deleterious
AutG79269DCAF10 9 37860178 missense_variant T G c.1299T>G p.Ser433Arg Not_tested 0.0017 neutral
AutG5727PTCH1 9 98239927 missense_variant C T c.1405G>A p.Val469Met Sanger sequencing 0.4747 deleterious
AutG9568GABBR2 9 101133817 missense_variant C T c.1699G>A p.Ala567Thr Sanger sequencing 0.8621 deleterious
AutG8518IKBKAP 9 111681091 missense_variant&splice_region_variant T C c.740A>G p.Lys247Arg Not_tested 0.3369 neutral
AutG153090DAB2IP 9 124530734 missense_variant T C c.1721T>C p.Met574Thr Not_tested 0.723 deleterious
AutG5742PTGS1 9 125154742 synonymous_variant C A c.1719C>A p.Thr573Thr Not_tested
AutG5090PBX3 9 128509871 missense_variant G A c.139G>A p.Gly47Ser Not_tested 0.4332 neutral
MVB12B 9 129184210 missense_variant A T c.740A>T p.Asn247Ile Not_tested 0.9405 deleterious
AutG158248TTC16 9 130487112 missense_variant G A c.1195G>A p.Glu399Lys Not_tested 0.0204 neutral
AutG1025CDK9 9 130549061 splice_region_variant&synonymous_variant G C c.525G>C p.Gly175Gly Not_tested
AutG2022ENG 9 130578257 missense_variant A G c.1817T>C p.Leu606Pro Sanger sequencing 0.9386 deleterious
AutG2801GOLGA2 9 131020733 splice_donor_variant&intron_variant C T c.2208+1G>A NA Not_tested
AutG10444ZER1 9 131503896 stop_gained C T c.1655G>A p.Trp552* Sanger sequencing
AutG2021ENDOG 9 131584651 missense_variant G A c.656G>A p.Gly219Asp Not_tested 0.9451 deleterious
AutG84628NTNG2 9 135073659 missense_variant G T c.520G>T p.Ala174Ser Sanger sequencing 0.9502 deleterious
AutG6838SURF6 9 136201373 frameshift_variant CTT C c.157_158delAA p.Lys53fs Sanger sequencing
AutG169714QSOX2 9 139108459 missense_variant T C c.1196A>G p.Asn399Ser Not_tested 0.685 deleterious
AutG23203PMPCA 9 139313507 missense_variant G C c.1212G>C p.Met404Ile Not_tested 0.6124 deleterious
AutG54461FBXW5 9 139836869 frameshift_variant TG T c.724delC p.Gln242fs Sanger sequencing
AutG283078MKX 10 28030357 missense_variant G A c.265C>T p.Leu89Phe Sanger sequencing 0.8964 deleterious
AutG57705WDFY4 10 50155005 synonymous_variant C T c.7968C>T p.Cys2656Cys Not_tested
AutG1305COL13A1 10 71648062 frameshift_variant TC T c.528delC p.Ile177fs Sanger sequencing
AutG6229RPS24 10 79814442 missense_variant T A c.544T>A p.Leu182Met Not_tested 0.0052 neutral
AutG57559STAMBPL1 10 90668462 missense_variant A T c.252A>T p.Leu84Phe Sanger sequencing 0.3455 neutral
AutG387700SLC16A12 10 91198564 synonymous_variant G A c.825C>T p.Tyr275Tyr Not_tested
AutG81603TRIM8 10 104416554 frameshift_variant T TG c.1100dupG p.Cys367fs Sanger sequencing
AutG57678GPAM 10 113941493 missense_variant G A c.50C>T p.Pro17Leu Not_tested 0.3733 neutral
AutG57700FAM160B1 10 116620601 missense_variant G A c.2041G>A p.Val681Met Not_tested 0.0709 neutral
AutG119587CPXM2 10 125521594 missense_variant G A c.1571C>T p.Ala524Val Not_tested 0.0953 neutral
AutG256536TCERG1L 10 133109867 missense_variant C T c.32G>A p.Arg11Gln Not_tested 0.0236 neutral
AutG3047HBG1 11 5269621 missense_variant C T c.412G>A p.Val138Met Not_tested 0.0178 neutral
AutG390075OR52N5 11 5799207 missense_variant T C c.658A>G p.Ile220Val Not_tested 0.0057 neutral
AutG887CCKBR 11 6281224 synonymous_variant C T c.66C>T p.Cys22Cys Not_tested
AutG6833ABCC8 11 17436882 frameshift_variant C CT c.2262dupA p.Glu755fs Sanger sequencing
AutG159963SLC5A12 11 26732893 missense_variant C T c.418G>A p.Gly140Arg Sanger sequencing 0.9995 deleterious
AutG7490WT1 11 32410678 missense_variant C G c.1480G>C p.Ala494Pro Not_tested 0.9963 deleterious
AutG4005LMO2 11 33890952 missense_variant C T c.188G>A p.Gly63Asp Not_tested 0.4973 deleterious
AutG119749OR4C46 11 51515545 missense_variant G C c.264G>C p.Lys88Asn Not_tested 0.01 neutral
AutG10938EHD1 11 64622239 missense_variant C T c.1171G>A p.Ala391Thr Not_tested 0.8576 deleterious
AutG5977DPF2 11 65111483 missense_variant C T c.580C>T p.Arg194Cys Not_tested 0.6562 deleterious
AutG10992SF3B2 11 65826778 missense_variant A G c.1289A>G p.Asp430Gly Not_tested 0.5989 deleterious
AutG156ADRBK1 11 67051346 missense_variant C T c.1417C>T p.Pro473Ser Not_tested 0.7064 deleterious
AutG338692ANKRD13D 11 67056954 missense_variant T C c.23T>C p.Phe8Ser Not_tested 0.0351 neutral
AutG6199RPS6KB2 11 67198951 missense_variant G A c.422G>A p.Gly141Asp Not_tested 0.4501 neutral
AutG408ARRB1 11 74994486 missense_variant C A c.199G>T p.Asp67Tyr Not_tested 0.9898 deleterious
AutG7450VWF 12 6121251 splice_donor_variant&intron_variant A G c.5664+2T>C NA Sanger sequencing
AutG7167TPI1 12 6976676 synonymous_variant G A c.57G>A p.Gly19Gly Not_tested
AutG2A2M 12 9230450 synonymous_variant G A c.3123C>T p.Leu1041Leu Not_tested
AutG8082SSPN 12 26377307 missense_variant A G c.361A>G p.Met121Val Not_tested 0.6884 deleterious
AutG51290ERGIC2 12 29496095 frameshift_variant C CA c.945dupT p.Val316fs Sanger sequencing
AutG23519ANP32D 12 48866524 frameshift_variant ACAGT A c.84_87delGTCA p.Ser29fs Sanger sequencing
AutG6602SMARCD1 12 50480605 stop_gained C T c.475C>T p.Gln159* Sanger sequencing
AutG3891KRT85 12 52754716 missense_variant G A c.1445C>T p.Ala482Val Not_tested 0.0687 neutral
AutG3875KRT18 12 53343125 synonymous_variant C T c.168C>T p.Gly56Gly Not_tested
AutG552AVPR1A 12 63544381 missense_variant G A c.236C>T p.Thr79Met Sanger sequencing 0.3727 neutral
AutG5781PTPN11 12 112926270 missense_variant C T c.1403C>T p.Thr468Met Not_tested 0.9864 deleterious
AutG23389MED13L 12 116403994 missense_variant G A c.6280C>T p.Pro2094Ser Not_tested 0.9469 deleterious
AutG121665SPPL3 12 121206844 frameshift_variant C CAGAG c.517_520dupCTCT p.Cys174fs Sanger sequencing
AutG10795ZNF268 12 133779856 missense_variant T G c.1584T>G p.His528Gln Not_tested 0.0155 neutral
AutG26278SACS 13 23905698 missense_variant A G c.12317T>C p.Leu4106Pro Not_tested 0.8908 deleterious
AutG23111SPG20 13 36909888 missense_variant A G c.80T>C p.Val27Ala Not_tested 0.7416 deleterious
KIAA0226L 13 46933633 missense_variant T G c.1253A>C p.His418Pro Not_tested 0.8344 deleterious
AutG85416ZIC5 13 100623117 synonymous_variant G T c.813C>A p.Gly271Gly Not_tested
AutG259232NALCN 13 101795438 missense_variant T G c.2111A>C p.Asp704Ala Sanger sequencing 0.5666 deleterious
AutG259232NALCN 13 101944423 missense_variant A G c.965T>C p.Ile322Thr Sanger sequencing 0.7969 deleterious
AutG8874ARHGEF7 13 111927885 missense_variant T C c.1342T>C p.Cys448Arg Sanger sequencing 0.8751 deleterious
AutG26020LRP10 14 23346233 missense_variant C T c.1639C>T p.Arg547Cys Sanger sequencing 0.7903 deleterious
AutG161253REM2 14 23355292 synonymous_variant C T c.579C>T p.Ile193Ile Not_tested
AutG64806IL25 14 23845075 missense_variant C T c.520C>T p.Arg174Cys Sanger sequencing 0.5378 deleterious
AutG122830NAA30 14 57857680 missense_variant C T c.5C>T p.Ala2Val Not_tested 0.8505 deleterious
AutG387990TOMM20L 14 58869468 missense_variant G T c.251G>T p.Trp84Leu Not_tested 0.4849 deleterious
AutG9786KIAA0586 14 58965637 missense_variant G A c.4286G>A p.Cys1429Tyr Not_tested 0.0196 neutral
AutG6710SPTB 14 65220412 missense_variant T C c.6445A>G p.Thr2149Ala Not_tested 0.4051 neutral
AutG122453PLEKHD1 14 69988999 splice_acceptor_variant&intron_variant G T c.556-1G>T NA Sanger sequencing
AutG23768FLRT2 14 86089107 frameshift_variant GT G c.1250delT p.Val417fs Sanger sequencing
AutG54207KCNK10 14 88652413 synonymous_variant C T c.1098G>A p.Glu366Glu Not_tested
AutG440193CCDC88C 14 91766302 missense_variant C T c.3748G>A p.Glu1250Lys Not_tested 0.7641 deleterious
NUTM1 15 34649615 stop_gained C T c.3406C>T p.Arg1136* Not_tested
AutG56924PAK6 15 40566347 missense_variant A G c.1748A>G p.Asp583Gly Not_tested 0.9871 deleterious
AutG23269MGA 15 42058538 missense_variant G A c.8258G>A p.Gly2753Glu Not_tested 0.1557 neutral
AutG51332SPTBN5 15 42142103 missense_variant C T c.10976G>A p.Cys3659Tyr Not_tested 0.0629 neutral
AutG50506DUOX2 15 45403691 synonymous_variant C T c.606G>A p.Gln202Gln Not_tested
AutG84952CGNL1 15 57810657 missense_variant G C c.2677G>C p.Ala893Pro Not_tested 0.8076 deleterious
AutG8925HERC1 15 64039940 synonymous_variant G A c.2337C>T p.Leu779Leu Not_tested
AutG8925HERC1 15 64047525 splice_acceptor_variant&intron_variant C T c.1534-1G>A NA Sanger sequencing
AutG10021HCN4 15 73614963 synonymous_variant G C c.3471C>G p.Ser1157Ser Not_tested
AutG49855SCAPER 15 76726486 missense_variant T C c.3244A>G p.Thr1082Ala Not_tested 0.0225 neutral
AutG1136CHRNA3 15 78909435 missense_variant T C c.308A>G p.Tyr103Cys Not_tested 0.9234 deleterious
AutG374655ZNF710 15 90611437 missense_variant C G c.1068C>G p.Cys356Trp Not_tested 0.9981 deleterious
AutG1106CHD2 15 93485051 splice_acceptor_variant&intron_variant G T c.693-1G>T NA Sanger sequencing
AutG1106CHD2 15 93510727 stop_gained C T c.2173C>T p.Gln725* Sanger sequencing
AutG401827MSLNL 16 820594 missense_variant C T c.2632G>A p.Ala878Thr Not_tested
AutG401827MSLNL 16 820596 missense_variant A G c.2630T>C p.Leu877Pro Not_tested
AutG8912CACNA1H 16 1259233 missense_variant C T c.3565C>T p.Arg1189Cys Not_tested 0.6523 deleterious
AutG3029HAGH 16 1866933 synonymous_variant G A c.708C>T p.Pro236Pro Not_tested 0.0124 neutral
AutG146310RNF151 16 2018652 missense_variant G A c.464G>A p.Arg155His Not_tested 0.0476 neutral
AutG23524SRRM2 16 2814953 missense_variant G A c.4424G>A p.Arg1475Lys Not_tested 0.6385 deleterious
AutG4992OR1F1 16 3255016 missense_variant C T c.770C>T p.Ala257Val Not_tested 0.3053 neutral
AutG9093DNAJA3 16 4493080 synonymous_variant C G c.846C>G p.Gly282Gly Not_tested
AutG2072ERCC4 16 14041797 missense_variant A C c.2344A>C p.Asn782His Not_tested 0.3946 neutral
AutG1339COX6A2 16 31439149 synonymous_variant A G c.240T>C p.Thr80Thr Not_tested
AutG10294DNAJA2 16 47007418 synonymous_variant G A c.66C>T p.Asn22Asn Not_tested
AutG221184CPNE2 16 57157358 missense_variant C G c.900C>G p.Ile300Met Sanger sequencing 0.9408 deleterious
AutG25894PLEKHG4 16 67315085 stop_gained&splice_region_variant C T c.811C>T p.Gln271* Not_tested
AutG23644EDC4 16 67915593 stop_gained G A c.2849G>A p.Trp950* Not_tested
DUS2 16 68100248 missense_variant G A c.446G>A p.Arg149His Not_tested 0.0081 neutral
AutG197259MLKL 16 74709283 protein_protein_contact C G c.1210G>C NA Not_tested 0.0597 neutral
AutG170692ADAMTS18 16 77325261 frameshift_variant G GTTTC c.3300_3303dupGAAA p.Pro1102fs Sanger sequencing
AutG161931ADAD2 16 84229845 synonymous_variant C T c.1641C>T p.His547His Not_tested
AutG339145FAM92B 16 85133773 missense_variant G A c.725C>T p.Pro242Leu Not_tested 0.1362 neutral
AutG29123ANKRD11 16 89341340 missense_variant T G c.7595A>C p.Gln2532Pro Sanger sequencing 0.9304 deleterious
AutG10594PRPF8 17 1561966 missense_variant G A c.5230C>T p.Arg1744Cys Sanger sequencing 0.9927 deleterious
AutG8387OR1E1 17 3301128 stop_gained G A c.577C>T p.Arg193* Sanger sequencing
AutG9423NTN1 17 9143210 synonymous_variant G A c.1740G>A p.Gln580Gln Not_tested
AutG6416MAP2K4 17 11924221 synonymous_variant G A c.18G>A p.Pro6Pro Not_tested
AutG6416MAP2K4 17 11924226 missense_variant G A c.23G>A p.Gly8Asp Not_tested 0.0683 neutral
AutG6416MAP2K4 17 11924235 missense_variant G A c.32G>A p.Gly11Asp Not_tested 0.0256 neutral
AutG147166TRIM16L 17 18638245 synonymous_variant G A c.681G>A p.Gln227Gln Not_tested
AutG339184CCDC144NL 17 20799169 synonymous_variant C T c.165G>A p.Lys55Lys Not_tested
AutG4843NOS2 17 26096003 frameshift_variant&splice_region_variant CT C c.2033delA p.Lys678fs Sanger sequencing
AutG284086NEK8 17 27064851 missense_variant C T c.904C>T p.Pro302Ser Not_tested 0.0092 neutral
AutG146857SLFN13 17 33768288 missense_variant G A c.2020C>T p.Arg674Cys Not_tested 0.2182 neutral
AutG79893GGNBP2 17 34934444 stop_gained C T c.673C>T p.Arg225* Sanger sequencing
AutG31ACACA 17 35487135 missense_variant G A c.5689C>T p.Arg1897Trp Sanger sequencing 0.3605 neutral
AutG535ATP6V0A1 17 40666450 missense_variant G A c.2395G>A p.Ala799Thr Sanger sequencing 0.9242 deleterious
AutG146923RUNDC1 17 41141433 missense_variant C T c.733C>T p.Leu245Phe Not_tested 0.7575 deleterious
AutG9842PLEKHM1 17 43535724 missense_variant T C c.1390A>G p.Ile464Val Not_tested 0.0013 neutral
AutG996CDC27 17 45219311 missense_variant T C c.1477A>G p.Ile493Val Not_tested 0.0257 neutral
AutG6442SGCA 17 48247675 synonymous_variant C T c.919C>T p.Leu307Leu Not_tested
AutG80221ACSF2 17 48539642 missense_variant C T c.680C>T p.Pro227Leu Not_tested 0.1823 neutral
AutG10040TOM1L1 17 52978235 frameshift_variant TG T c.11delG p.Gly4fs Sanger sequencing
AutG11011TLK2 17 60655885 missense_variant A C c.1302A>C p.Arg434Ser Sanger sequencing 0.1607 neutral
AutG63893UBE2O 17 74392872 missense_variant C G c.2146G>C p.Glu716Gln Not_tested 0.8323 deleterious
AutG83882TSPAN10 17 79612099 missense_variant G T c.118G>T p.Ala40Ser Not_tested
AutG23253ANKRD12 18 9221974 disruptive_inframe_deletion CTGA C c.930_932delTGA p.Asp310del Sanger sequencing
AutG57534MIB1 18 19444568 missense_variant C T c.2962C>T p.Arg988Cys Not_tested 0.8913 deleterious
AutG1000CDH2 18 25589713 missense_variant G A c.670C>T p.Pro224Ser Not_tested 0.2473 neutral
AutG80206FHOD3 18 33877804 synonymous_variant C T c.6C>T p.Ala2Ala Not_tested
AutG30827CXXC1 18 47810914 missense_variant G A c.1051C>T p.Arg351Trp Sanger sequencing 0.5118 deleterious
AutG8943AP3D1 19 2137725 splice_donor_variant&intron_variant C A c.273+1G>T NA Not_tested
AutG10362HMG20B 19 3573739 missense_variant G A c.88G>A p.Val30Ile Not_tested 0.1028 neutral
19 8495673 synonymous_variant G T c.504G>T p.Arg168Arg Not_tested
AutG94025MUC16 19 8976388 inframe_insertion G GTGC c.42437_42439dupGCA p.Cys14146_Thr14147insSer Sanger sequencing
AutG79088ZNF426 19 9640036 missense_variant A G c.685T>C p.Cys229Arg Not_tested 0.0433 neutral
AutG126070ZNF440 19 11941128 missense_variant A T c.34A>T p.Asn12Tyr Not_tested 0.5384 deleterious
AutG5731PTGER1 19 14584644 synonymous_variant C A c.489G>T p.Ala163Ala Not_tested
AutG4854NOTCH3 19 15290891 missense_variant T C c.3319A>G p.Met1107Val Not_tested 0.0098 neutral
AutG57834CYP4F11 19 16045146 missense_variant C G c.73G>C p.Val25Leu Not_tested 0.0367 neutral
AutG10523CHERP 19 16630447 missense_variant T C c.2575A>G p.Met859Val Not_tested 0.9175 deleterious
AutG10523CHERP 19 16643425 missense_variant C G c.658G>C p.Asp220His Sanger sequencing 0.9896 deleterious
AutG80726KIAA1683 19 18377276 synonymous_variant C T c.1074G>A p.Thr358Thr Not_tested
AutG8178ELL 19 18557559 missense_variant&splice_region_variant G C c.1531C>G p.Leu511Val Not_tested 0.1647 neutral
AutG4099MAG 19 35791072 missense_variant G A c.735G>A p.Met245Ile Not_tested 0.0279 neutral
AutG112398EGLN2 19 41306763 missense_variant G A c.286G>A p.Ala96Thr Not_tested 0.1523 neutral
AutG478ATP1A3 19 42474692 missense_variant&splice_region_variant G A c.2266C>T p.Arg756Cys Sanger sequencing 1 deleterious
AutG1209CLPTM1 19 45490617 missense_variant C G c.974C>G p.Ser325Trp Sanger sequencing 0.1256 neutral
AutG2696GIPR 19 46180216 missense_variant G A c.643G>A p.Ala215Thr Not_tested 0.0252 neutral
AutG114783LMTK3 19 48997119 synonymous_variant T A c.4011A>T p.Ala1337Ala Not_tested
AutG114783LMTK3 19 48997134 synonymous_variant G A c.3996C>T p.Pro1332Pro Not_tested
AutG57030SLC17A7 19 49937906 stop_gained C T c.590G>A p.Trp197* Sanger sequencing
AutG284371ZNF841 19 52569251 synonymous_variant G A c.1884C>T p.Asn628Asn Not_tested
AutG147798TMC4 19 54666461 missense_variant G T c.1465C>A p.Leu489Ile Not_tested 0.1176 neutral
AutG11027LILRA2 19 55098764 missense_variant T C c.1403T>C p.Phe468Ser Not_tested 0.0079 neutral
AutG57663USP29 19 57641305 missense_variant T C c.1262T>C p.Val421Ala Not_tested 0.3085 neutral
AutG23054NCOA6 20 33345644 stop_gained G A c.907C>T p.Arg303* Sanger sequencing
AutG6406SEMG1 20 43837010 missense_variant C T c.1072C>T p.Leu358Phe Not_tested 0.1097 neutral
AutG7022TFAP2C 20 55209316 stop_gained T G c.914T>G p.Leu305* Sanger sequencing
GID8 20 61572950 synonymous_variant C T c.96C>T p.Leu32Leu Not_tested
AutG1137CHRNA4 20 61981908 synonymous_variant G A c.855C>T p.Leu285Leu Not_tested
AutG84619ZGPAT 20 62366534 missense_variant C T c.1075C>T p.Arg359Trp Not_tested 0.5363 deleterious
AutG56731SLC2A4RG 20 62373543 missense_variant G A c.640G>A p.Ala214Thr Not_tested 0.3243 neutral
AutG100131902KRTAP25-1 21 31661638 frameshift_variant ACC A c.169_170delGG p.Gly57fs Sanger sequencing
AutG6651SON 21 34945653 missense_variant G A c.6925G>A p.Gly2309Arg Sanger sequencing 1 deleterious
AutG51227PIGP 21 38441914 synonymous_variant G A c.165C>T p.Leu55Leu Not_tested
AutG128954GAB4 22 17469020 synonymous_variant G A c.516C>T p.Leu172Leu Not_tested
AutG29801ZDHHC8 22 20130777 missense_variant G A c.1624G>A p.Asp542Asn Not_tested 0.9562 deleterious
AutG8216LZTR1 22 21345975 missense_variant C T c.850C>T p.Arg284Cys Sanger sequencing 0.8702 deleterious
AutG10634GAS2L1 22 29706675 synonymous_variant G A c.789G>A p.Thr263Thr Not_tested
AutG10766TOB2 22 41832929 missense_variant C T c.421G>A p.Val141Met Not_tested 0.3149 neutral
AutG113730KLHDC7B 22 50987405 synonymous_variant C T c.810C>T p.Arg270Arg Not_tested
AutG59272ACE2 X 15607569 synonymous_variant G A c.594C>T p.Asp198Asp Not_tested
AutG5160PDHA1 X 19373601 synonymous_variant C T c.852C>T p.Gly284Gly Not_tested
AutG1654DDX3X X 41203604 missense_variant G A c.977G>A p.Arg326His Sanger sequencing 0.4004 neutral
AutG23096IQSEC2 X 53268427 missense_variant C T c.3065G>A p.Arg1022His Not_tested 0.6895 deleterious
AutG1349COX7B X 77158235 missense_variant G A c.136G>A p.Ala46Thr Not_tested 0.0515 neutral
AutG1349COX7B X 77158244 missense_variant T C c.145T>C p.Cys49Arg Not_tested 0.6116 deleterious
AutG3188HNRNPH2 X 100667398 missense_variant T A c.422T>A p.Met141Lys Not_tested 0.0608 neutral
AutG6748SSR4 X 153062005 stop_gained&splice_region_variant C T c.184C>T p.Gln62* Sanger sequencing
AutG2316FLNA X 153580387 missense_variant&splice_region_variant C T c.6772G>A p.Glu2258Lys Not_tested 0.4562 neutral

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


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