AutismKB 2.0

View de novo Variants from PubMed ID: 26582266


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
AutG21ABCA3 16 2334337 non-synonymous p.Glu1269Unk Sanger sequencing
AutG84986ARHGAP19 10 98994997 non-synonymous p.Arg421Cys Sanger sequencing
CAMSAP3 19 7677972 non-synonymous p.Ala892Pro Sanger sequencing
AutG79009DDX50 10 70694112 non-synonymous p.Pro466Leu Sanger sequencing
AutG51295ECSIT 19 11618318 non-synonymous p.Glu335Asp Sanger sequencing
AutG2027ENO3 17 4859881 non-synonymous p.Gln361Unk Sanger sequencing
AutG81889FAHD1 16 1877625 non-synonymous p.Ser132Thr Sanger sequencing
AutG81889FAHD1 16 1877669 non-synonymous p.Lys147Gln Sanger sequencing
AutG8925HERC1 15 63927042 non-synonymous p.Lys4154Unk Sanger sequencing
AutG8515ITGA10 1 145536118 non-synonymous p.Glu737Gly Sanger sequencing
AutG23367LARP1 5 154193454 non-synonymous p.Met953Arg Sanger sequencing
AutG23165NUP205 7 135333246 non-synonymous p.Ser1994Thr Sanger sequencing
AutG84033OBSCN 1 228476583 non-synonymous p.Val3445Leu Sanger sequencing
AutG128366OR6P1 1 158533157 non-synonymous p.Arg80Trp Sanger sequencing
AutG9180OSMR 5 38869177 non-synonymous p.Phe11Val Sanger sequencing
AutG22990PCNX 14 71555961 non-synonymous p.Arg1831Cys Sanger sequencing
PEAK1 15 77472860 non-synonymous p.Pro470Leu Sanger sequencing
AutG57664PLEKHA4 19 49355561 non-synonymous p.Thr450Met Sanger sequencing
AutG23126POGZ 1 151378386 non-synonymous p.Gln1042Arg Sanger sequencing
AutG64425POLR1E 9 37498215 non-synonymous p.Arg294Trp Sanger sequencing
AutG79717PPCS 1 42925473 non-synonymous p.Thr271Asn Sanger sequencing
AutG25865PRKD2 19 47207870 non-synonymous p.Ser183Asn Sanger sequencing
AutG10799RPP40 6 4996306 non-synonymous p.Asn258Asp Sanger sequencing
AutG8710SERPINB7 18 61471655 non-synonymous p.Ile310Thr Sanger sequencing
AutG84102SLC41A2 12 105198950 non-synonymous p.Asp568Asn Sanger sequencing
AutG91833WDR20 14 102675594 non-synonymous p.Val363Ile Sanger sequencing
AutG65268WNK2 9 96069086 non-synonymous p.Gly2118Ala Sanger sequencing
AutG10138YAF2 12 42629785 non-synonymous p.Gly56Val Sanger sequencing
AutG463ZFHX3 16 72845532 non-synonymous p.His1270Tyr Sanger sequencing
AutG23414ZFPM2 8 106813565 non-synonymous p.Glu419Lys Sanger sequencing
AutG391059FRRS1 1 100214124 splice site Sanger sequencing
AutG55707NECAP2 1 16778330 splice site Sanger sequencing
AutG6608SMO 7 128851858 splice site Sanger sequencing
AutG273AMPH 7 38431556 synonymous p.Asn557Asn Sanger sequencing
AutG23341DNAJC16 1 15888805 synonymous p.Phe441Phe Sanger sequencing
AutG10985GCN1L1 12 120591701 synonymous p.Ala1238Ala Sanger sequencing
AutG53353LRP1B 2 141609318 synonymous p.Gly1538Gly Sanger sequencing
ERVMER34-1 4 53610949 frameshift p.Leu247fs 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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