AutismKB 2.0

View de novo Variants from PubMed ID: 27824329


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
AutG9743ARHGAP32 11 128840352 frameshift CG C c.4713del p.Glu1223Lysfs*22 Sanger sequencing
AutG57680CHD8 14 21862265 frameshift G GT c.5688dup p.Arg1897Thrfs*23 Sanger sequencing
AutG57680CHD8 14 21871185 frameshift AT A c.3704del p.Asn1235Metfs*18 Sanger sequencing
AutG57680CHD8 14 21878123 frameshift AT A c.2250del p.Lys750Asnfs*14 Sanger sequencing
AutG1826DSCAM 21 41719739 frameshift AG A c.1067del p.Pro356Leufs*5 Sanger sequencing
AutG23389MED13L 12 116443746 frameshift CTG C c.2395_2396del p.Gln799Glyfs*10 Sanger sequencing
AutG55023PHIP 6 79650574 frameshift TTC T c.5300_5301del p.Arg1767Asnfs*2 Sanger sequencing
AutG6326SCN2A 2 166152561 frameshift G GC c.232dup p.Leu78Profs*11 Sanger sequencing
AutG6326SCN2A 2 166179814 frameshift GAA G c.1821_1822del p.Asp609Leufs*37 Sanger sequencing
AutG6326SCN2A 2 166243497 frameshift ATT A c.4796_4797del p.Phe1599Cysfs*14 Sanger sequencing
AutG6326SCN2A 2 166246026 frameshift CAA C c.5711_5712del p.Gln1904Argfs*22 Sanger sequencing
AutG6812STXBP1 9 130428475 frameshift ATC A c.695_696del p.Ile232Thrfs*6 Sanger sequencing
AutG23036ZNF292 6 87965835 frameshift G GATCAC c.2490_2494dup p.Ser832Ilefs*28 Sanger sequencing
AutG23001WDFY3 4 85750232 missense C C/T c.881G>A p.Ser294Asn Sanger sequencing
AutG23126POGZ 1 151379747 missense C C/T c.2369G>A p.Ser746Asn Sanger sequencing
AutG55870ASH1L 1 155348166 missense C C/T c.6238G>A p.Val2080Ile Sanger sequencing
AutG55870ASH1L 1 155491090 missense G A/G c.221C>T p.Ser74Leu Sanger sequencing 0.6564 deleterious
AutG7249TSC2 16 2124222 missense G A/G c.2377G>A p.Glu793Lys Sanger sequencing 0.9997 deleterious
AutG3708ITPR1 3 4752093 missense G A/G c.4900G>A p.Glu1619Lys Sanger sequencing 0.2497 neutral
AutG1106CHD2 15 93563389 missense G A/G c.5054G>A p.Arg1685His Sanger sequencing 0.8427 deleterious
AutG6326SCN2A 2 166229841 missense G C/G c.3956G>C p.Arg1319Pro Sanger sequencing 0.9999 deleterious
AutG9611NCOR1 17 15983379 splice-acceptor C C/G c.3449-1G>C Sanger sequencing
AutG6326SCN2A 2 166229733 splice-acceptor A A/C c.3850-2A>C Sanger sequencing
AutG8452CUL3 2 225370672 splice-donor C A/C c.1008+1G>T Sanger sequencing
AutG81704DOCK8 9 339101 splice-donor T C/T c.1312+2T>C Sanger sequencing
AutG10787NCKAP1 2 183792844 splice-donor C C/T c.3180+1G>A Sanger sequencing
AutG50944SHANK1 19 51190000 splice-donor C C/T c.2458+1G>A Sanger sequencing
AutG23394ADNP 20 49510619 stop-gained A A/T c.632T>A p.Leu211* Sanger sequencing
AutG6792CDKL5 X 18668586 stop-gained C C/T c.2854C>T p.Arg952* Sanger sequencing
AutG1826DSCAM 21 41446967 stop-gained G G/A c.4885C>T p.Arg1629* Sanger sequencing
AutG1859DYRK1A 21 38853069 stop-gained G G/T c.457G>T p.Glu153* Sanger sequencing
AutG26058GIGYF2 2 233655745 stop-gained G G/T c.958G>T p.Glu320* Sanger sequencing
AutG2904GRIN2B 12 13768147 stop-gained G A/G c.1555C>T p.Arg519* Sanger sequencing
AutG4204MECP2 X 153296399 stop-gained G A/G c.916C>T p.Arg294* Sanger sequencing
AutG4204MECP2 X 153296516 stop-gained G A/G c.799C>T p.Arg255* Sanger sequencing
AutG23040MYT1L 2 1891360 stop-gained G A/G c.2542C>T p.Gln848* Sanger sequencing
AutG23126POGZ 1 151402109 stop-gained G G/A c.538C>T p.Gln127* Sanger sequencing
AutG22999RIMS1 6 72975162 stop-gained C A/C c.3264C>A p.Cys1088* Sanger sequencing
AutG6326SCN2A 2 166179813 stop-gained C C/T c.1819C>T p.Arg607* Sanger sequencing
AutG6326SCN2A 2 166201068 stop-gained C C/T c.2566C>T p.Arg856* Sanger sequencing
AutG8831SYNGAP1 6 33405522 stop-gained C C/G c.840C>G p.Tyr280* Sanger sequencing
AutG9320TRIP12 2 230724181 stop-gained G A/G c.334C>T p.Arg112* Sanger sequencing
AutG23001WDFY3 4 85678225 stop-gained G A/G c.5278C>T p.Gln1760* Sanger sequencing
AutG23394ADNP 20 49508151 missense C C/T Sanger sequencing
AutG1859DYRK1A 21 38877659 missense G A/G Sanger sequencing 0.9644 deleterious
AutG1826DSCAM 21 41414453 missense G A/G Sanger sequencing 0.9125 deleterious
AutG23001WDFY3 4 85781627 missense G A/G Sanger sequencing 0.8595 deleterious
AutG55870ASH1L 1 155429689 missense-near-splice C C/T Sanger sequencing
AutG57680CHD8 14 21882530 missense T C/T Sanger sequencing 0.9737 deleterious
AutG26058GIGYF2 2 233675964 missense G A/G Sanger sequencing 0.8236 deleterious
AutG6326SCN2A 2 166167003 missense A A/G Sanger sequencing
AutG6326SCN2A 2 166170189 missense C C/T Sanger sequencing 0.9873 deleterious
AutG6326SCN2A 2 166172026 missense G G/T Sanger sequencing
AutG6326SCN2A 2 166245634 missense C C/T Sanger sequencing

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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