AutismKB 2.0

View de novo Variants from PubMed ID: 22495306


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
AutG114815SORCS1 10 108447964 Missense C T c.1546G>A p.Val516Met Sanger sequencing 0.884 deleterious
AutG83473KATNAL2 18 44589733 Splice_Site G R Sanger sequencing
AutG1767DNAH5 5 13883123 Missense C T c.3064G>A p.Val1022Ile Sanger sequencing 0.3085 neutral
AutG64854USP46 4 53492207 Missense G R c.539C>T p.Thr180Ile Sanger sequencing
AutG10785WDR4 21 44270292 Missense G R c.1106C>T p.Thr369Ile Sanger sequencing
AutG54856GON4L 1 155736011 Silent G A c.3253C>T p.Leu1085Leu Sanger sequencing
AutG7025NR2F1 5 92929487 Missense G A c.121G>1A p.Arg404His Sanger sequencing 0.9507 deleterious
AutG83439TCF7L1 2 85529727 Missense G T c.646G>T p.Asp216Tyr Sanger sequencing 0.931 deleterious
AutG128239IQGAP3 1 156503911 Missense G S c.3763C>G p.Gln1255Glu Sanger sequencing
AutG55079FEZF2 3 62356982 Missense G R c.1030C>T p.Arg344Cys Sanger sequencing
AutG166752FREM3 4 144620325 Nonsense G R c.1504C>T p.Arg502Unk Sanger sequencing
AutG5862RAB2A 8 61484622 Nonsense C T c.136C>T p.Arg46Unk Sanger sequencing
AutG11198SUPT16H 14 21828671 Missense C T c.2078G>A p.Arg693Gln Sanger sequencing 0.9061 deleterious
AutG204801NLRP11 19 56320401 Silent C T c.1575G>A p.Ser525Ser Sanger sequencing
AutG64770CCDC14 3 123663756 Missense A R c.1304T>C p.Ile435Thr Sanger sequencing
AutG10024TROAP 12 49725038 Missense C Y c.2140C>T p.Arg714Cys Sanger sequencing
AutG2581GALC 14 88407884 Silent C Y c.1689G>A p.Lys563Lys Sanger sequencing
AutG23189KANK1 9 712508 Missense G A c.1268G>A p.Cys423Tyr Sanger sequencing 0.7109 deleterious
AutG6326SCN2A 2 166210819 Nonsense G T c.3037G>T p.Gly1013Unk Sanger sequencing
AutG2778GNAS 20 57484241 Missense C S c.510C>G p.Ile170Met Sanger sequencing
AutG696BTN1A1 6 26508728 Splice_Site G R Sanger sequencing
AutG114571SLC22A9 11 63177324 Missense C T c.1652C>T p.Thr551Met Sanger sequencing 0.9905 deleterious
AutG284254C18orf26 18 52265167 Missense G T c.424G>T p.Ala142Ser Sanger sequencing 0.0185 neutral
AutG80312TET1 10 70333978 Missense A G c.1883A>G p.Lys628Arg Sanger sequencing 0.5118 deleterious
AutG84893FBXO18 10 5963470 Missense G A c.2413G>A p.Val805Met Sanger sequencing 0.6758 deleterious
AutG414332LCN10 9 139636334 Missense G A c.256C>T p.Arg86Trp Sanger sequencing 0.0787 neutral
AutG6540SLC6A13 12 332363 Missense G A c.1073C>T p.Ala358Val Sanger sequencing 0.9896 deleterious
AutG2901GRIK5 19 42563657 Silent C A c.531G>T p.Leu177Leu Sanger sequencing
AutG4052LTBP1 2 33572486 Missense A C c.2805A>C p.E935Asp Sanger sequencing 0.0549 neutral
AutG63925ZNF335 20 44582508 Missense G A c.2522C>T p.Pro841Leu Sanger sequencing 0.0777 neutral
AutG23774BRD1 22 50167925 Missense G A c.3133C>T p.Arg1045Cys Sanger sequencing 0.6018 deleterious
AutG80000GREB1L 18 19093823 Silent C T c.4777C>T p.Leu1593Leu Sanger sequencing
AutG1797DOM3Z 6 31938187 Missense C T c.881G>A p.Arg294His Sanger sequencing 0.8336 deleterious
AutG375611SLC26A5 7 103014942 Missense G C c.2043C>G p.Ser681Arg Sanger sequencing 0.0256 neutral
AutG9899SV2B 15 91825013 Missense T A c.1429T>A p.Cys477Ser Sanger sequencing 0.503 deleterious
AutG53833IL20RB 3 136708288 Missense C G c.412C>G p.Leu138Val Sanger sequencing 0.792 deleterious
AutG93100NAPRT1 8 144659231 Splice_Site C T Sanger sequencing
AutG23167EFR3A 8 132982744 Missense T C c.1013T>C p.Phe338Ser Sanger sequencing 0.9888 deleterious
AutG8573CASK X 41524649 Missense C T c.589G>A p.Gly197Arg Sanger sequencing 0.9794 deleterious
AutG28988DBNL 7 44100380 Silent C T c.1185C>T p.Asp395Asp Sanger sequencing
AutG54861SNRK 3 43389739 Missense A G c.1988A>G p.Lys663Arg Sanger sequencing 0.0209 neutral
AutG10886NPFFR2 4 72994491 Missense G A c.489G>A p.Met163Ile Sanger sequencing 0.1006 neutral
AutG8567MADD 11 47304002 Missense C T c.1540C>T p.Arg514Cys Sanger sequencing 0.975 deleterious
AutG9870KIAA0317 14 75142520 Missense G A c.962C>T p.Ser321Phe Sanger sequencing 0.2972 neutral
AutG163351GBP6 1 89846006 Silent A G c.687A>G p.Pro229Pro Sanger sequencing
AutG81442OR6N2 1 158746730 Silent T C c.696A>G p.Ser232Ser Sanger sequencing
AutG2917GRM7 3 7620458 Missense G A c.1865G>A p.Arg622Gln Sanger sequencing 0.9921 deleterious
AutG4602MYB 6 135507151 Missense G A c.134G>A p.Arg45Gln Sanger sequencing 0.9898 deleterious
AutG5519PPP2R1B 11 111626054 Missense G A c.616C>T p.Arg206Cys Sanger sequencing 0.539 deleterious
AutG51234TMEM85 15 34520732 Missense C G c.458C>G p.Ser153Cys Sanger sequencing 0.8288 deleterious
AutG25890ABI3BP 3 100471643 Missense C T c.2977G>A p.Asp993Asn Sanger sequencing 0.9208 deleterious
AutG84059GPR98 5 89949288 Missense G A c.3897G>A p.Met1299Ile Sanger sequencing 0.6451 deleterious
AutG9126SMC3 10 112359556 Missense C T c.2413C>T p.Arg805Cys Sanger sequencing 0.9551 deleterious
AutG51111SUV420H1 11 67939039 Missense C G c.791G>C p.Trp264Ser Sanger sequencing 0.7272 deleterious
AutG343413FCRL6 1 159778750 Splice_Site G A Sanger sequencing
AutG23199KIAA0182 16 85691078 Missense G A c.1196G>A p.Arg399Gln Sanger sequencing 0.6419 deleterious
AutG288ANK3 10 61833827 Missense A G c.6812T>C p.Met2271Thr Sanger sequencing 0.9494 deleterious
AutG81050OR5AC2 3 97806680 Missense C T c.664C>T p.Arg222Cys Sanger sequencing 0.237 neutral
AutG23195MDN1 6 90402347 Missense G C c.10402C>G p.L3468Val Sanger sequencing 0.22 neutral
AutG9117SEC22C 3 42610365 Silent A G c.174T>C p.Phe58Phe Sanger sequencing
AutG79730NSUN7 4 40762471 Missense A C c.319A>C p.Ile107Leu Sanger sequencing 0.8135 deleterious
AutG23526HMHA1 19 1079991 Missense T Y c.1577T>C p.Met526Thr Sanger sequencing
AutG148741ANKRD35 1 145561197 Silent G A c.885G>A p.Ser295Ser Sanger sequencing
AutG6342SCP2 1 53416506 Frameshift * D:TG *207+TG Sanger sequencing
AutG27134TJP3 19 3743971 Silent C T c.1977C>T p.Pro659Pro Sanger sequencing
AutG7846TUBA1A 12 49579631 Missense G A c.518C>T p.Pro173Leu Sanger sequencing 0.6438 deleterious
AutG51111SUV420H1 11 67926275 Missense G A c.1538C>T p.Ala513Val Sanger sequencing 0.5290 neutral
AutG1144CHRND 2 233396326 Missense G A c.1007G>A p.Arg336Gln Sanger sequencing 0.1232 neutral
AutG2802GOLGA3 12 133381371 Missense C S c.1528G>C p.Glu510Gln Sanger sequencing 0.3708 neutral
AutG26523EIF2C1 1 36367118 Missense C T c.1064C>T p.Thr355Ile Sanger sequencing 0.9177 deleterious
AutG9703KIAA0100 17 26961787 Missense G A c.2818C>T p.Arg940Cys Sanger sequencing 0.9129 deleterious
AutG50618ITSN2 2 24518595 Missense C T c.1573G>A p.Val525Ile Sanger sequencing 0.0927 neutral
AutG4763NF1 17 29677317 Missense C M c.7375C>A p.His2459Asn Sanger sequencing
AutG8985PLOD3 7 100856461 Missense C Y c.704G>A p.Arg235Gln Sanger sequencing
AutG54980C2orf42 2 70392261 Missense T C c.1316A>G p.Asn439Ser Sanger sequencing 0.2899 neutral
AutG22859LPHN1 19 14268081 Silent G A c.2742C>T p.Ile914Ile Sanger sequencing
AutG8220DGCR14 22 19127459 Missense T C c.479A>G p.Asn160Ser Sanger sequencing 0.9738 deleterious
AutG4627MYH9 22 36684831 Missense C T c.4712G>A p.Arg1571Gln Sanger sequencing 0.9995 deleterious
AutG9166EBAG9 8 110576670 Missense A T c.524A>T p.Gln175Leu Sanger sequencing 0.7527 deleterious
AutG8295TRRAP 7 98506430 Missense G A c.1195G>A p.Val399Ile Sanger sequencing 0.9956 deleterious
AutG6326SCN2A 2 166201379 Nonsense C A c.2877C>A p.Cys959Unk Sanger sequencing
AutG58986TMEM8A 16 426580 Missense C T c.868G>A p.Gly290Arg Sanger sequencing 0.0876 neutral
AutG54822TRPM7 15 50923683 Missense T C c.1135A>G p.Thr379Ala Sanger sequencing 0.297 neutral
AutG731220RFX8 2 102083246 Missense A C c.65G>T p.Phe22Cys Sanger sequencing 0.148 neutral
AutG253782LASS6 2 169417831 Missense A G c.406A>G p.Met136Val Sanger sequencing
AutG26013L3MBTL1 20 42169759 Missense T G c.2514T>G p.Ser838Arg Sanger sequencing 0.3042 deleterious
AutG84465MEGF11 15 66198459 Missense G A c.2731C>T p.Arg911Cys Sanger sequencing 0.4317 neutral
AutG152006RNF38 9 36375929 Splice_Site A G Sanger sequencing
AutG64091POPDC2 3 119367114 Silent G A c.1002C>T p.Gly334Gly Sanger sequencing
AutG89846FGD3 9 95782633 Missense A G c.1421A>G p.Asn474Ser Sanger sequencing 0.5565 deleterious
AutG54737MPHOSPH8 13 20235898 Nonsense C T c.1852C>T p.Arg618Unk Sanger sequencing
AutG4051CYP4F3 19 15763419 Missense C T c.959C>T p.Ala320Val Sanger sequencing 0.8051 deleterious
AutG344752AADACL2 3 151451960 Missense C T c.137C>T p.Thr46Met Sanger sequencing 0.3821 neutral
AutG89797NAV2 11 20139742 Missense G A c.7228G>A p.Asp2410N Sanger sequencing 0.558 deleterious
AutG9569GTF2IRD1 7 73969529 Missense A G c.1942A>G p.Lys648Glu Sanger sequencing 0.4939 deleterious
AutG3996LLGL1 17 18140835 Missense C T c.1652C>T p.Ala551Val Sanger sequencing 0.002 neutral
AutG493ATP2B4 1 203652386 Missense G A c.53G>A p.Arg18His Sanger sequencing 0.0068 neutral
AutG9918NCAPD2 12 6630268 Missense T C c.1706T>C p.Ile569Thr Sanger sequencing 0.4953 neutral
AutG124274GPR139 16 20043668 Missense T C c.451A>G p.Ser151Gly Sanger sequencing 0.0827 neutral
AutG8493PPM1D 17 58740376 Nonsense G A c.1281G>A p.Trp427Unk Sanger sequencing
AutG63035BCORL1 X 129149138 Missense G A c.2390G>A p.Cys797Tyr Sanger sequencing 0.3901 deleterious
AutG27185DISC1 1 231829616 Missense C T c.112C>T p.Arg38Trp Sanger sequencing 0.0601 neutral
AutG192286HIGD2A 5 175816383 Missense G A c.206G>A p.Arg69Gln Sanger sequencing 0.1176 neutral
AutG259308C9orf144B 9 34728650 Missense C G c.146G>C p.Cys49Ser Sanger sequencing
AutG22941SHANK2 11 70332092 Frameshift * D:TG *2542+CA Sanger sequencing
AutG1770DNAH9 17 11806196 Missense C T c.11567C>T p.Ala3856Val Sanger sequencing 0.0434 neutral
AutG1788DNMT3A 2 25464520 Missense C A c.1993G>T p.Val665Leu Sanger sequencing 0.1703 neutral
AutG4317MMP8 11 102593283 Missense G A c.224C>T p.Thr75Met Sanger sequencing 0.2405 neutral
AutG66036MTMR9 8 11172535 Missense C A c.1075C>A p.Arg359Ser Sanger sequencing 0.8122 deleterious
AutG7760ZNF213 16 3190740 Missense C S c.772C>G p.P258Ala Sanger sequencing
AutG23247KIAA0556 16 27692808 Silent C M c.897C>A p.Pro299Pro Sanger sequencing
AutG79671NLRX1 11 119045475 Missense C Y c.1163C>T p.Thr388Met Sanger sequencing
AutG80332ADAM33 20 3655475 Nonsense G R c.355C>T p.Arg119Unk Sanger sequencing
AutG64924SLC30A5 5 68417634 Missense C G c.1683C>G p.Ser561Arg Sanger sequencing 0.047 neutral
AutG8532CPZ 4 8620162 Missense C T c.1477C>T p.Arg493Trp Sanger sequencing 0.0953 neutral
AutG339559ZNF642 1 40961433 Missense A G c.1283A>G p.His428Arg Sanger sequencing 0.0802 neutral
AutG9901SRGAP3 3 9089078 Missense C T c.1405G>A p.Glu469Lys Sanger sequencing 0.9457 deleterious
AutG7850IL1R2 2 102626046 Silent T C c.90T>C p.Phe30Phe Sanger sequencing
AutG27125AFF4 5 132223552 Silent C T c.2919G>A p.Thr973Thr Sanger sequencing
AutG3140MR1 1 181021601 Missense C T c.700C>T p.His234Tyr Sanger sequencing 0.0337 neutral
AutG57715SEMA4G 10 102740667 Missense T C c.1556T>C p.Leu519Ser Sanger sequencing 0.9984 deleterious
AutG51439FAM8A1 6 17606162 Nonsense C T c.1015C>T p.Arg339Unk Sanger sequencing
AutG3012HIST1H2AE 6 26217336 Missense G S c.134G>C p.Gly45Ala Sanger sequencing
AutG55197RPRD1A 18 33606959 Silent C T c.693G>A p.Ala231Ala Sanger sequencing
AutG8898MTMR2 11 95580994 Missense T C c.847A>G p.Asn283Asp Sanger sequencing 0.2632 neutral
AutG5547PRCP 11 82536081 Missense C A c.1358G>T p.Gly453Val Sanger sequencing 0.7626 deleterious
AutG65065NBEAL1 2 203972384 Silent A G p.Gln445Gln Sanger sequencing
AutG2A2M 12 9225335 Missense G A p.Arg1297Cys Sanger sequencing 0.7415 deleterious
AutG53919SLCO1C1 12 20890190 Missense G T p.Arg393Met Sanger sequencing 0.0905 neutral
AutG4648MYO7B 2 128388847 Missense G C p.Trp1642Cys Sanger sequencing 0.999 deleterious
AutG64478CSMD1 8 2965314 Missense T C p.Gln2254Arg Sanger sequencing 0.004 neutral
AutG10786SLC17A3 6 25862544 Missense A G p.Ser74Pro Sanger sequencing 0.0475 neutral
AutG27010TPK1 7 144150703 Missense C T p.G223Arg Sanger sequencing 0.2719 neutral
AutG26233FBXL6 8 145580321 Missense C T p.Arg311His Sanger sequencing 0.1084 neutral
AutG2048EPHB2 1 23236941 Nonsense C T p.Gln858Unk Sanger sequencing
AutG84125LRRIQ1 12 85626531 Silent T K p.Leu1671Leu Sanger sequencing
AutG4035LRP1 12 57594563 Missense A G p.Asn3397Ser Sanger sequencing 0.9687 deleterious
AutG950SCARB2 4 77100764 Missense A G p.Val173Ala Sanger sequencing 0.7276 deleterious
AutG85453TSPYL5 8 98289514 InFrame * D:CTT Sanger sequencing
AutG57608KIAA1462 10 30317090 Missense C T p.Asp663Asn Sanger sequencing 0.4902 deleterious
AutG85451UNK 17 73780743 Silent C Y p.Ser21Ser Sanger sequencing
AutG7812CSDE1 1 115280664 Nonsense G R p.Arg123Unk Sanger sequencing
AutG7007TECTA 11 121039453 Missense G A p.Ala1940Thr Sanger sequencing 0.9648 deleterious
AutG6547SLC8A3 14 70517735 Silent G A p.Thr701Thr Sanger sequencing
AutG7204TRIO 5 14394220 Missense A T p.Lys1431Met Sanger sequencing 0.9999 deleterious
AutG6098ROS1 6 117725523 Missense T K p.Lys120Gln Sanger sequencing 0.1384 neutral
AutG57589KIAA1432 9 5769178 Missense A R p.Lys1037Glu Sanger sequencing 0.3451 neutral
AutG5990RFX2 19 6044241 Missense G A p.Pro48Leu Sanger sequencing 0.058 neutral
AutG256536TCERG1L 10 132915185 Silent G A p.Cys424Cys Sanger sequencing
AutG23405DICER1 14 95574729 Missense G A p.Arg790Trp Sanger sequencing 0.8581 deleterious
AutG977CD151 11 837476 Missense G C p.Ser158Thr Sanger sequencing 0.2396 neutral
AutG2011MARK2 11 63665704 Silent C T p.Leu97Leu Sanger sequencing
AutG8701DNAH11 7 21737764 Missense A G p.Asp2045G Sanger sequencing 0.5422 deleterious
AutG200162SPAG17 1 118566055 Missense C T p.Ser1314Asn Sanger sequencing 0.4037 neutral
AutG11274USP18 22 18650710 Silent C T p.Cys178Cys Sanger sequencing
AutG5754PTK7 6 43099768 Missense G A p.Arg276His Sanger sequencing 0.6867 deleterious
AutG26289AK5 1 78001663 Silent C G p.Ala494Ala Sanger sequencing
AutG11132CAPN10 2 241534627 Missense G A p.Arg395Gln Sanger sequencing 0.0347 neutral
AutG10302SNAPC5 15 66786860 Missense T Y p.Ile71Val Sanger sequencing
AutG387104C6orf174 6 127796553 Missense C S p.Arg873Pro Sanger sequencing
AutG121457IKBIP 12 99020493 Missense T C p.Met117Val Sanger sequencing 0.0226 neutral
AutG6529SLC6A1 3 11067472 Missense C T p.Ala288Val Sanger sequencing 0.998 deleterious
AutG51678MPP6 7 24681464 Missense A G p.Ile83Val Sanger sequencing 0.6044 deleterious
AutG55750AGK 7 141321569 Missense G R p.Glu186Lys Sanger sequencing
AutG114791TUBGCP5 15 22873217 Missense T C p.Leu1015Ser Sanger sequencing 0.6748 deleterious
AutG1544CYP1A2 15 75044182 Silent C A p.Ile343Ile Sanger sequencing
AutG50831TAS2R3 7 141464367 Missense G A p.Ala137Thr Sanger sequencing 0.081 neutral
AutG22801ITGA11 15 68599749 Silent G A p.Asn1106Asn Sanger sequencing
AutG162394SLFN5 17 33586581 Missense G T p.Gly291Val Sanger sequencing 0.9115 deleterious
AutG7283TUBG1 17 40765950 Silent G A p.Ser259Ser Sanger sequencing
AutG10730YME1L1 10 27431317 Silent T C p.Pro143Pro Sanger sequencing
AutG23469PHF3 6 64423242 Missense C T p.Arg1920Cys Sanger sequencing 0.0832 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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