AutismKB 2.0

View de novo Variants from PubMed ID: 22495311


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
AutG57685CACHD1 1 65139072 Missense T G c.2499T>G p.Glu833Leu Sanger sequencing 0.0265 neutral
AutG343099CCDC18 1 93667486 Missense G A c.1090G>A p.Glu364Lys Sanger sequencing 0.8601 deleterious
AutG148534TMEM56 1 95616924 Silent A G c.348A>G p.Lys116Lys Sanger sequencing
AutG10451VAV3 1 108138879 Missense G C c.2305C>G p.Pro209Ala Sanger sequencing 0.0623 neutral
AutG6814STXBP3 1 109321932 Missense A G c.709A>G p.Ile237Val Sanger sequencing 0.9404 deleterious
AutG8458TTF2 1 117632812 Missense C A c.2478C>A p.Asp826Glu Sanger sequencing 0.7743 deleterious
AutG51107APH1A 1 150238957 Nonsense G A c.709C>T p.Arg237* Sanger sequencing
AutG23126POGZ 1 151379469 Frameshift G GGTAC Sanger sequencing
AutG6703SPRR2D 1 153012685 Silent T A c.138A>T p.Pro46Pro Sanger sequencing
AutG919CD247 1 167410000 Silent T C c.63A>G p.Ala21Ala Sanger sequencing
AutG126859C1orf125 1 179337957 Silent A G c.120A>G p.Lys40Lys Sanger sequencing
AutG163589TDRD5 1 179609178 Silent G A c.1725G>A p.Arg575Arg Sanger sequencing
AutG777CACNA1E 1 181721285 Silent C T c.3738C>T p.Asn1246Asn Sanger sequencing
AutG2494NR5A2 1 200017391 Silent C T c.417C>T p.Leu185Leu Sanger sequencing
AutG84919PPP1R15B 1 204380092 Nonsense G A c.448C>T p.Gln150* Sanger sequencing
AutG23114NFASC 1 204978698 Silent C T c.3105C>T p.Asn1030Asn Sanger sequencing
AutG7399USH2A 1 216363573 Missense A G c.4388T>C p.Leu1463Ser Sanger sequencing 0.4483 neutral
AutG6683SPAST 2 32361662 Frameshift CT C Sanger sequencing
AutG84168ANTXR1 2 69409650 Missense C T c.1211C>T p.Thr404Ile Sanger sequencing 0.9592 deleterious
AutG27332ZNF638 2 71635358 Missense C G c.3242C>G p.Pro1081Arg Sanger sequencing 0.0139 neutral
AutG9391CIAO1 2 96936917 Missense C G c.848C>G p.Pro283Arg Sanger sequencing 0.0375 neutral
AutG129804FBLN7 2 112922678 Silent G A c.336G>A p.Arg112Arg Sanger sequencing
AutG10716TBR1 2 162275553 Missense A C c.1120A>C p.Asn374His Sanger sequencing 0.9879 deleterious
AutG56171DNAH7 2 196640603 Silent A C c.11169T>G p.Thr3723Thr Sanger sequencing
AutG25843MOBKL3 2 198388394 Missense C T c.107C>T p.Thr36Ile Sanger sequencing
AutG57404CYP20A1 2 204161598 Silent A G c.1356A>G p.Glu452Glu Sanger sequencing
coding intron of 2 207621863 AG Sanger sequencing
AutG26154ABCA12 2 215846997 Missense C G c.4493G>C p.Arg1498Thr Sanger sequencing 0.3258 neutral
AutG2335FN1 2 216259404 Missense C T c.3643G>A p.Gly1215Ser Sanger sequencing 0.4875 neutral
AutG84812PLCD4 2 219483415 Missense C T c.295C>T p.Arg99Cys Sanger sequencing 0.6729 deleterious
AutG23363OBSL1 2 220422963 Missense C T c.3445G>A p.Gly1149Arg Sanger sequencing 0.9883 deleterious
AutG6694SPP2 2 234969088 Frameshift TC T Sanger sequencing
AutG51665ASB1 2 239344638 Missense C A c.478C>A p.Leu160Met Sanger sequencing 0.4041 deleterious
AutG55209SETD5 3 9486949 Missense G A c.1405G>A p.Val469Ile Sanger sequencing 0.0772 neutral
AutG6599SMARCC1 3 47702879 Missense T C c.2225A>G p.Gln742Arg Sanger sequencing 0.968 deleterious
AutG5364PLXNB1 3 48455355 Frameshift A Sanger sequencing
AutG1605DAG1 3 49570115 Missense C T c.2171C>T p.Pro724Leu Sanger sequencing 0.1871 neutral
AutG11188NISCH 3 52492846 Missense C G c.346C>G p.His116Asp Sanger sequencing 0.4588 neutral
AutG8618CADPS 3 62543117 Silent C T c.1716G>A p.Leu572Leu Sanger sequencing
AutG10402ST3GAL6 3 98510684 Splice Site G C c.757-1 Sanger sequencing
AutG4171MCM2 3 127327353 Silent C T c.1230C>T p.Asp410Asp Sanger sequencing
AutG4585MUC4 3 195505250 Silent G A c.12867C>T p.Thr53Thr Sanger sequencing
AutG2580GAK 4 898481 Missense G A c.469C>T p.Arg157Cys Sanger sequencing 0.2725 neutral
AutG26234FBXL5 4 15640246 Silent T G c.417A>C p.Ala156Ala Sanger sequencing
AutG5978REST 4 57798002 Missense C G c.2978C>G p.Pro993Arg Sanger sequencing 0.2049 neutral
AutG2798GNRHR 4 68619768 Missense G A c.286C>T p.Pro96Ser Sanger sequencing 0.9626 deleterious
AutG7365UGT2B10 4 69681849 Missense A G c.112A>G p.Met38Val Sanger sequencing 0.479 deleterious
AutG285513GPRIN3 4 90170534 Missense C G c.728G>C p.Gly243Ala Sanger sequencing 0.0573 neutral
AutG57721METTL14 4 119626841 Missense A G c.931A>G p.Ile311Val Sanger sequencing 0.7268 deleterious
AutG27152INTU 4 128595288 Silent C T c.1101C>T p.Leu367Leu Sanger sequencing
AutG2195FAT1 4 187524608 Missense T C c.11072A>G p.His3691Arg Sanger sequencing 0.1151 neutral
AutG2195FAT1 4 187538324 Missense T G c.11072A>G p.His3691Arg Sanger sequencing 0.203 neutral
AutG6531SLC6A3 5 1414895 Missense G A c.1067C>T p.Thr356Met Sanger sequencing 0.9992 deleterious
AutG54545MTMR12 5 32263299 Nonsense C T c.633G>A p.Thrrp211* Sanger sequencing
AutG1601DAB2 5 39376856 Missense G C c.2033C>G p.Thr678Ser Sanger sequencing 0.0563 neutral
AutG493869GPX8 5 54456842 Silent G A c.225G>A p.Val75Val Sanger sequencing
AutG4208MEF2C 5 88100432 Missense T C c.241A>G p.Asn81Asp Sanger sequencing 0.9929 deleterious
AutG1105CHD1 5 98216794 Missense G C c.3046C>G p.Leu1016Val Sanger sequencing 0.9805 deleterious
AutG96459FNIP1 5 131013499 Silent T C c.1332A>G p.Pro444Pro Sanger sequencing
AutG57717PCDHB16 5 140563351 Missense A G c.1217A>G p.Glu406Gly Sanger sequencing 0.281 neutral
AutG114825PWWP2A 5 159520099 Missense G A c.1558C>T p.Pro520Ser Sanger sequencing 0.92 deleterious
AutG282890ZNF311 6 28963322 Missense C T c.1457G>A p.Arg486His Sanger sequencing 0.148 neutral
AutG170954KIAA1949 6 30652620 Silent G C c.1176C>G p.Ala392Ala Sanger sequencing
AutG259215LY6G6F 6 31675849 Missense G A c.584G>A p.Arg195Gln Sanger sequencing 0.0181 neutral
AutG23294ANKS1A 6 34985466 Missense C T c.1640C>T p.Thr547Met Sanger sequencing 0.0531 neutral
AutG57510XPO5 6 43492367 Missense T C c.3319A>G p.Arg1107Gly Sanger sequencing 0.7446 deleterious
AutG26036ZNF451 6 57017096 Missense C T c.2686C>T p.His944Tyr Sanger sequencing 0.6155 deleterious
AutG9096TBX18 6 85470056 Nonsense C G c.516G>C p.Met172Ile Sanger sequencing 0.5665 deleterious
AutG23036ZNF292 6 87925717 Nonsense C T c.265C>T p.Arg89* Sanger sequencing
AutG23288IQCE 7 2629665 Missense A G c.1121A>G p.His374Arg Sanger sequencing 0.0341 neutral
AutG346389MACC1 7 20199071 Missense T C c.913A>G p.Met305Val Sanger sequencing 0.6851 deleterious
AutG55536CDCA7L 7 21947980 Missense G A c.311C>T p.Thr150Ile Sanger sequencing 0.0385 neutral
AutG11185INMT 7 30791907 Silent G A c.141G>A p.Lys47Lys Sanger sequencing
AutG154664ABCA13 7 48390312 Missense A G c.10277A>G p.Asn3426Ser Sanger sequencing 0.5617 deleterious
AutG53616ADAM22 7 87760687 Missense G A c.929G>A p.Arg310His Sanger sequencing 0.5125 deleterious
AutG23660ZKSCAN5 7 99123456 Missense A G c.793A>G p.Met265Val Sanger sequencing 0.0017 neutral
AutG55262C7orf43 7 99755468 Missense T G c.505A>C p.Lys169Gln Sanger sequencing 0.3964 neutral
AutG5649RELN 7 103322603 Nonsense G A c.1249C>T p.Gln417* Sanger sequencing
AutG57670KIAA1549 7 138552798 Missense G A c.4852C>T p.Arg1618Trp Sanger sequencing 0.4241 neutral
AutG9172MYOM2 8 2027642 Silent C T c.1464C>T p.Ala488Ala Sanger sequencing
AutG79648MCPH1 8 6500546 Silent T A c.2484T>A p.Pro828Pro Sanger sequencing
AutG57805KIAA1967 8 22476678 Missense G A c.2537G>A p.Arg846His Sanger sequencing 0.1793 neutral
AutG54212SNTG1 8 51705253 Missense T A c.1418T>A p.Glu473Tyr Sanger sequencing 0.097 neutral
AutG23513SCRIB 8 144891120 Missense G A c.1774C>T p.Pro592Ser Sanger sequencing 0.2495 neutral
AutG5339PLEC 8 144995364 Silent G A c.8529C>T p.Pro2843Pro Sanger sequencing
AutG2731GLDC 9 6534708 Silent G A Sanger sequencing
AutG8777MPDZ 9 13247770 Missense C T c.47G>A p.Arg16His Sanger sequencing 0.5125 deleterious
AutG10210TOPORS 9 32542613 Missense G A c.1715C>T p.Pro637Leu Sanger sequencing 0.0011 neutral
AutG1306COL15A1 9 101832099 Silent A G c.4098A>G p.Ala1366Ala Sanger sequencing
AutG6812STXBP1 9 130444788 Missense C T c.1651C>T p.Arg551Cys Sanger sequencing 0.9987 deleterious
AutG6840SVIL 10 29769625 Nonsense C A c.3940G>T p.Glu1314* Sanger sequencing
AutG221037JMJD1C 10 64967942 Missense T C c.2830A>G p.Ile944Val Sanger sequencing 0.0479 neutral
AutG3778KCNMA1 10 78869948 Missense A C c.1114T>G p.Glu372Val Sanger sequencing 0.9289 deleterious
AutG3778KCNMA1 10 78943225 Silent C T c.762G>A p.Thr254Thr Sanger sequencing
AutG79812MMRN2 10 88703271 Missense C T c.1270G>A p.Asp424Asn Sanger sequencing 0.2049 neutral
AutG26509MYOF 10 95079735 Missense G C c.5492C>G p.Thr1818Arg Sanger sequencing 0.0178 neutral
AutG54619CCNJ 10 97816903 Silent G A c.603G>A p.Ser213Ser Sanger sequencing
AutG118611C10orf90 10 128118361 Silent A G c.1956T>C p.Ser652Ser Sanger sequencing
AutG4928NUP98 11 3721958 Silent G A c.3624C>T p.His1208His Sanger sequencing
AutG23258DENND5A 11 9163520 Missense C T c.3647G>A p.Gly1216Asp Sanger sequencing 0.9726 deleterious
AutG84953MICALCL 11 12371396 Missense C G c.1741C>G p.Gln581Glu Sanger sequencing 0.4478 neutral
AutG55366LGR4 11 27397988 A Sanger sequencing
AutG6506SLC1A2 11 35395749 TGTGACTTGCTGGCTT Sanger sequencing
AutG219469OR8H1 11 56058115 Missense C T c.424G>A p.Ala142Thr Sanger sequencing 0.0085 neutral
AutG187APLNR 11 57003801 Silent T C c.678A>G p.Gln226Gln Sanger sequencing
AutG10072DPP3 11 66261048 Missense G A c.1333G>A p.Val445Met Sanger sequencing 0.792 deleterious
AutG4647MYO7A 11 76891512 Silent C T c.2679C>T p.Ala893Ala Sanger sequencing
AutG60492CCDC90B 11 82989819 Missense T C c.274A>G p.Asn92Asp Sanger sequencing 0.0566 neutral
AutG143689PIWIL4 11 94340642 Missense A T c.1676A>T p.Tyr559Glu Sanger sequencing 0.9424 deleterious
AutG345APOC3 11 116701581 Missense G A c.148G>A p.Val50Met Sanger sequencing 0.027 neutral
AutG4297MLL 11 118344818 Missense T A c.2944T>A p.Ser982Thr Sanger sequencing 0.1040 neutral
AutG84623KIRREL3 11 126333180 Missense C T c.614G>A p.Arg205Gln Sanger sequencing 0.8227 deleterious
AutG54682MANSC1 12 12483385 Missense G A c.872C>T p.Ala291Val Sanger sequencing 0.0247 neutral
AutG54934C12orf41 12 49062942 Missense G A c.823C>T p.His275Tyr Sanger sequencing
AutG7846TUBA1A 12 49579227 Missense G A c.922C>T p.Arg308Cys Sanger sequencing 0.9177 deleterious
AutG3678ITGA5 12 54793722 Nonsense C A c.2653G>T p.Glu885* Sanger sequencing
AutG6601SMARCC2 12 56566368 Splice Site C A c.1863+1 Sanger sequencing
AutG283375SLC39A5 12 56629024 Missense C T c.718C>T p.Arg240Cys Sanger sequencing 0.4554 neutral
AutG6773STAT2 12 56744934 Missense G A c.982C>T p.Pro328Ser Sanger sequencing 0.1016 neutral
AutG57522SRGAP1 12 64519821 Silent C T c.2289C>T p.Ser763Ser Sanger sequencing
AutG196441ZFC3H1 12 72004328 Silent T C c.5850A>G p.Ala1950A Sanger sequencing
AutG144406WDR66 12 122359408 Missense G A c.197G>A p.Gly66Glu Sanger sequencing 0.002 neutral
AutG8562DENR 12 123246737 Missense G A c.110G>A p.Cys37Tyr Sanger sequencing 0.991 deleterious
AutG7750ZMYM2 13 20641159 GTAA Sanger sequencing
AutG1045CDX2 13 28542803 Missense T C c.341A>G p.His114Arg Sanger sequencing 0.1907 neutral
AutG675BRCA2 13 32915264 Missense G A c.6772G>A p.Glu2258Lys Sanger sequencing 0.0395 neutral
AutG675BRCA2 13 32929306 Missense G A c.7316G>A p.Gly2439Glu Sanger sequencing 0.4272 neutral
AutG8803SUCLA2 13 48575333 Nonsense G A c.73C>T p.Gln25* Sanger sequencing
AutG23077MYCBP2 13 77700568 Missense A G c.7769T>C p.Met2590Thr Sanger sequencing 0.0089 neutral
AutG55015PRPF39 14 45571806 Nonsense G A c.644G>A p.Trp215* Sanger sequencing
AutG23224SYNE2 14 64532269 Silent G A c.10332G>A p.Ser3444Ser Sanger sequencing
AutG26094DCAF4 14 73420965 Missense G C c.902G>C p.Ser280Thr Sanger sequencing 0.0126 neutral
AutG6400SEL1L 14 81952041 Silent T C c.1848A>G p.Leu616Leu Sanger sequencing
AutG113146AHNAK2 14 105411605 Missense C G c.10183G>C p.Glu3395Gln Sanger sequencing 0.013 neutral
AutG23168RTF1 15 41745214 Missense A C Sanger sequencing 0.4068 neutral
AutG54629FAM63B 15 59064294 Missense A G c.700A>G p.Lys234Glu Sanger sequencing 0.987 deleterious
AutG8554PIAS1 15 68378807 Missense G A c.188G>A p.Arg63Gln Sanger sequencing 0.9931 deleterious
AutG9915ARNT2 15 80806697 Silent A G c.828A>G p.Gln276Gln Sanger sequencing
AutG1106CHD2 15 93518170 Missense A G c.2567A>G p.Asp856Gly Sanger sequencing 0.9766 deleterious
AutG84231TRAF7 16 2226080 Missense C T c.1777C>T p.Arg593Trp Sanger sequencing 0.6017 deleterious
AutG57496MKL2 16 14334157 Missense C T c.895C>T p.Arg299Trp Sanger sequencing 0.1611 neutral
AutG94160ABCC12 16 48175156 Silent C T c.384G>A p.Val128Val Sanger sequencing
AutG29800ZDHHC1 16 67432775 Silent G A c.603C>T p.Glu201Glu Sanger sequencing
AutG146760RTN4RL1 17 1840824 Missense C T c.292G>A p.Gly98Ser Sanger sequencing 0.6771 deleterious
AutG5430POLR2A 17 7416351 Missense T A c.4768T>A p.Ser1590Thr Sanger sequencing 0.881 deleterious
AutG242ALOX12B 17 7983087 Silent C T c.927G>A p.Glu309Glu Sanger sequencing
AutG5187PER1 17 8044457 Missense T C c.3802A>G p.Met1268Val Sanger sequencing 0.4499 neutral
AutG6532SLC6A4 17 28544289 Silent C G c.732G>C p.Gly244Gly Sanger sequencing
AutG83900KRTAP9-3 17 39389177 Missense A G c.424A>G p.Thr142Ala Sanger sequencing 0.0902 neutral
AutG8639AOC3 17 41004302 Silent A G c.942A>G p.Leu314Leu Sanger sequencing
AutG1845DUSP3 17 41847180 Missense G A c.355C>T p.Arg119Trp Sanger sequencing 0.8976 deleterious
AutG1213CLTC 17 57758401 Silent T C c.3048T>C p.Ser1016Ser Sanger sequencing
AutG9496TBX4 17 59560616 Silent C T c.1377C>T p.Ser459Ser Sanger sequencing
AutG23347SMCHD1 18 2743776 Missense A G c.3651A>G p.Ile1217Met Sanger sequencing 0.0848 neutral
AutG4645MYO5B 18 47506898 Silent G A c.972C>T p.Ser324Ser Sanger sequencing
AutG27006FGF22 19 643270 Missense G A c.250G>A p.Val84Met Sanger sequencing 0.8926 deleterious
AutG6929TCF3 19 1619177 Frameshift null T Sanger sequencing
AutG718C3 19 6678390 Missense G C c.4707C>G p.Ile1569Met Sanger sequencing 0.8364 deleterious
AutG8178ELL 19 18576690 Silent C T c.222G>A p.Ala74Ala Sanger sequencing
AutG5976UPF1 19 18976921 Silent G A c.3306G>A p.Gln1102Gln Sanger sequencing
AutG7711ZNF155 19 44500603 Silent C T c.594C>T p.His198His Sanger sequencing
AutG126017ZNF813 19 53994750 Missense A C c.1264A>C p.Lys422Gln Sanger sequencing 0.0007 neutral
AutG128822CST9 20 23584346 Missense A G c.281T>C p.Met94Thr Sanger sequencing 0.3312 neutral
AutG128853DUSP15 20 30450489 Missense G A c.320C>T p.Thr4Met Sanger sequencing 0.8054 deleterious
AutG7150TOP1 20 39742794 Missense G A c.1637G>A p.Arg546Gln Sanger sequencing 0.7825 deleterious
AutG51526C20orf111 20 42825855 Frameshift GA Sanger sequencing
AutG3787KCNS1 20 43723695 Missense C T c.1397G>A p.Arg466His Sanger sequencing 0.7426 deleterious
AutG3689ITGB2 21 46311861 Silent C T c.1275G>A p.Ser425Ser Sanger sequencing
AutG51816CECR1 22 17662817 Missense C T c.1335G>A p.Met445Ile Sanger sequencing 0.0054 neutral
AutG2130EWSR1 22 29693821 Silent A G c.1296A>G p.Lys377Lys Sanger sequencing
AutG27128CYTH4 22 37693679 Silent C T c.309C>T p.Gly103Gly Sanger sequencing
AutG6305SBF1 22 50898487 Missense C T c.3385G>A p.Asp1129Asn Sanger sequencing 0.9831 deleterious
AutG2002ELK1 X 47497356 Missense C T c.880G>A p.Ala294Thr Sanger sequencing 0.1279 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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