AutismKB 2.0

View de novo Variants from PubMed ID: 25418537


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
AutG23394ADNP 20 49510224 frameshift C CA c.1026dupT p.Val343CysfsTer56 PCR and Sanger sequencing
AutG1105CHD1 5 98208223 missense C T c.3608G>A p.Arg1203Gln PCR and Sanger sequencing 0.8312 deleterious
AutG1106CHD2 15 93524060 frameshift TAAAG T c.2893_2896delAAAG p.Glu966SerfsTer2 PCR and Sanger sequencing
AutG1106CHD2 15 93563244 nonsense C T c.4909C>T p.Arg1637Ter PCR and Sanger sequencing
AutG1106CHD2 15 93563256 nonsense C T c.4921C>T p.Gln1641Ter PCR and Sanger sequencing
AutG1106CHD2 15 93563282 frameshift T TG c.4947_4948insG p.Gly1651TrpfsTer16 PCR and Sanger sequencing
AutG57680CHD8 14 21868219 missense G A c.4738C>T p.Arg1580Trp PCR and Sanger sequencing 0.9942 deleterious
AutG57680CHD8 14 21899168 missense C T c.635G>A p.Arg212Gln PCR and Sanger sequencing 0.2741 neutral
AutG57680CHD8 14 21876489 missense C T c.2712G>A p.Met904Ile PCR and Sanger sequencing 0.5628 deleterious
AutG57680CHD8 14 21882516 missense G T c.2086C>A p.Gln696Lys PCR and Sanger sequencing 0.9662 deleterious
AutG57680CHD8 14 21862535 nonsense G A c.5500C>T p.Arg1834Ter PCR and Sanger sequencing
AutG57680CHD8 14 21865980 splice_donor_variant A T c.5051+2T>A PCR and Sanger sequencing
AutG57680CHD8 14 21867866 splice_acceptor_variant T G c.4818-2A>C PCR and Sanger sequencing
AutG4849CNOT3 19 54649666 frameshift T TC c.724_725insC p.Pro244SerfsTer9 PCR and Sanger sequencing
AutG4849CNOT3 19 54647460 missense T C c.233T>C p.Ile78Thr PCR and Sanger sequencing 0.7714 deleterious
AutG7812CSDE1 1 115268874 missense A G c.1736T>C p.Ile579Thr PCR and Sanger sequencing 0.2936 neutral
AutG1826DSCAM 21 41457527 splice_donor_variant A T c.4132+2T>A PCR and Sanger sequencing
EIF2C1/AGO1 1 36360835 missense GG AA c.985_986delGGinsAA p.Gly329Asn PCR and Sanger sequencing
EIF2C1/AGO1 1 36367566 nonsense C G c.1158C>G p.Tyr386Ter PCR and Sanger sequencing
AutG2058EPRS 1 220195788 missense C T c.1016G>A p.Arg339Gln PCR and Sanger sequencing 0.9997 deleterious
AutG51466EVL 14 100551047 missense G A c.35G>A p.Arg12Gln PCR and Sanger sequencing 0.6416 deleterious
AutG9737GPRASP1 X 101912889 missense A G c.4048C>G p.Lys1350Glu PCR and Sanger sequencing 0.1421 neutral
AutG2904GRIN2B 12 13768129 missense A C c.1573T>G p.Phe525Val PCR and Sanger sequencing 0.9369 deleterious
AutG23389MED13L 12 116424952 nonsense C T c.4076G>A p.Trp1359Ter PCR and Sanger sequencing
AutG23389MED13L 12 116429238 missense T C c.3521A>G p.Tyr1174Cys PCR and Sanger sequencing 0.8739 deleterious
AutG23040MYT1L 2 1921079 missense A G c.1510T>C p.Cys504Arg PCR and Sanger sequencing 0.9774 deleterious
AutG10787NCKAP1 2 183866861 frameshift C CCA c.522_523dupTG p.Gly175ValfsTer14 PCR and Sanger sequencing
AutG4774NFIA 1 61818236 missense C T c.950C>T p.Thr317Met PCR and Sanger sequencing 0.0311 neutral
AutG9378NRXN1 2 50733692 missense C T c.2558G>A p.Arg853His PCR and Sanger sequencing 0.5914 deleterious
AutG9378NRXN1 2 50170866 frameshift AG A c.4311delC p.Cys1438ValfsTer8 PCR and Sanger sequencing
AutG9378NRXN1 2 51254825 missense G T c.587C>A p.Pro196His PCR and Sanger sequencing 0.2804 neutral
AutG9378NRXN1 2 50149217 nonsense G C c.4509C>G p.Tyr1503Ter PCR and Sanger sequencing
AutG5079PAX5 9 37020768 frameshift A AC c.76dupG p.Val26GlyfsTer49 PCR and Sanger sequencing
AutG5528PPP2R5D 6 42978887 missense A G c.1672A>G p.Met558Val PCR and Sanger sequencing 0.4696 neutral
AutG5728PTEN 10 89692790 missense G A c.274G>A p.Asp92Asn PCR and Sanger sequencing 0.4072 neutral
AutG5728PTEN 10 89692818 missense T C c.302T>C p.Ile101Thr PCR and Sanger sequencing 0.9968 deleterious
AutG5728PTEN 10 89692836 missense A T c.320A>T p.Asp107Val PCR and Sanger sequencing 0.9954 deleterious
AutG253959RALGAPA1 14 36133877 missense C T c.3781G>A p.Val1261Ile PCR and Sanger sequencing 0.0723 neutral
AutG55209SETD5 3 9477532 missense A G c.509A>G p.Lys170Arg PCR and Sanger sequencing 0.9636 deleterious
AutG55209SETD5 3 9517475 missense T G c.4029T>G p.Ser1343Arg PCR and Sanger sequencing 0.4971 deleterious
AutG83852SETDB2 13 50056886 missense C G c.1206C>G p.Ser402Arg PCR and Sanger sequencing 0.2024 neutral
AutG85358SHANK3 22 51159850 missense A G c.3637A>G p.Ser1213Gly PCR and Sanger sequencing 0.0189 neutral
AutG85358SHANK3 22 51159932 frameshift T TG c.3719_3720insG p.Ala1243GlyfsTer6 PCR and Sanger sequencing
AutG6529SLC6A1 3 11076337 missense G A c.1648G>A p.Gly550Arg PCR and Sanger sequencing 0.9875 deleterious
AutG6529SLC6A1 3 11067982 missense T C c.1015T>C p.Phe339Leu PCR and Sanger sequencing 0.9973 deleterious
AutG8831SYNGAP1 6 33403326 missense G A c.698G>A p.Cys233Tyr PCR and Sanger sequencing 0.9946 deleterious
AutG8831SYNGAP1 6 33399974 frameshift CA C c.333delA p.Lys114SerfsTer20 PCR and Sanger sequencing
AutG8831SYNGAP1 6 33408650 frameshift CTT C c.1822_1823delTT p.Phe608TrpfsTer9 PCR and Sanger sequencing
AutG8831SYNGAP1 6 33408610 frameshift TC T c.1782delC p.Leu595CysfsTer55 PCR and Sanger sequencing
AutG10716TBR1 2 162276743 missense A G c.1165A>G p.Lys389Glu PCR and Sanger sequencing 0.9691 deleterious
AutG10716TBR1 2 162274307 missense G T c.813G>T p.Trp271Cys PCR and Sanger sequencing 0.9874 deleterious
AutG6934TCF7L2 10 114901076 splice_donor_variant G A c.616+1G>A PCR and Sanger sequencing
AutG7014TERF2 16 69401013 missense G C c.1037C>G p.Ala346Gly PCR and Sanger sequencing 0.2364 neutral
AutG9320TRIP12 2 230636299 missense G A c.5519C>T p.Ser1840Leu PCR and Sanger sequencing 0.825 deleterious
AutG9320TRIP12 2 230650558 missense C T c.4784G>A p.Arg1595Gln PCR and Sanger sequencing 0.5859 deleterious
AutG9320TRIP12 2 230666966 splice_donor_variant,feature_truncation AC A c.2981+1delG PCR and Sanger sequencing
AutG27229TUBGCP4 15 43692324 missense C T c.1501C>T p.Arg501Cys PCR and Sanger sequencing 0.1816 neutral
AutG7415VCP 9 35057454 missense C T c.2234G>A p.Arg745His PCR and Sanger sequencing 0.9991 deleterious
AutG55339WDR33 2 128522378 missense G A c.650C>T p.Ser217Phe PCR and Sanger sequencing 0.9398 deleterious
AutG23394ADP 20 49509094 frameshift G GT c.2156dupA p.Tyr719Ter Y
AutG57680CHD8 14 21859175 frameshift A AT c.7112dupA p.Asn2371LysfsTer2 Y
AutG57680CHD8 14 21899618 nonsense G C c.185C>G p.Ser62Ter Y
AutG57680CHD8 14 21871373 splice_acceptor_variant T C c.3519-2A>G c.3519-2A>G Y
AutG57680CHD8 14 21854022 3n-non-frameshifting GGGT G c.7493_7495delACC p.His2498del Y
AutG57680CHD8 14 21878133 frameshift G GT c.2240dupA p.Tyr747Ter Y
AutG57680CHD8 14 21861643 frameshift TCTTC T c.6307_6310delGAAG p.Glu2103ArgfsTer3 Y
AutG1499CTB1 3 41275346 nonsense G A c.1512G>A p.Trp504Ter Y
AutG9737GPRASP1 X 101912545 missense C T c.3704G>T p.Thr1235Ile Y 0.9882 deleterious
AutG2904GRI2B 12 13768560 missense C T c.1367G>A p.Cys456Tyr Y 0.9011 deleterious
AutG2904GRI2B 12 13764762 nonsense C T c.1677G>A p.Trp559Ter Y
AutG2904GRI2B 12 14019043 frameshift T TG c.99dupC p.Ser34GlnfsTer25 Y
AutG5079PAX5 9 37033983 missense C G c.46G>C p.Gly16Arg Y 0.9922 deleterious
AutG5728PTE 10 89692908 missense C T c.392C>T p.Thr131Ile Y 0.9892 deleterious
AutG5728PTE 10 89692920 frameshift T TA c.404_405insA p.Cys136MetfsTer44 Y
AutG79718TBL1XR1 3 176767858 missense A T c.629T>A p.Val210Glu Y 0.9488 deleterious
AutG10716TBR1 2 162273603 missense A G c.682A>G p.Lys228Glu Y 0.9691 deleterious
AutG7415VCP 9 35061615 missense T G c.1153A>C p.Thr385Pro Y 0.9991 deleterious

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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