AutismKB 2.0

View de novo Variants from PubMed ID: 22542183


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
AutG81035COLEC12 18 321720 missense C A PCR and MiSeq 0.9995 deleterious
CR594687 5 75469979 UTR G T PCR and MiSeq
AutG148811PM20D1 1 205797834 missense A G PCR and MiSeq 0.9818 deleterious
AutG3675ITGA3 17 48145447 synonymous C T PCR and MiSeq
AutG344787ZNF860 3 32030783 missense T C PCR and MiSeq 0.0136 neutral
AutG200150PLD5 1 242383342 missense T C PCR and MiSeq 0.025 neutral
AutG144453BEST3 12 70087547 missense G T PCR and MiSeq 0.9519 deleterious
AutG10787NCKAP1 2 183791570 nonsense C A PCR and MiSeq
AutG165082GPR113 2 26536713 synonymous C T PCR and MiSeq
AutG5296PIK3R2 19 18273859 missense G A PCR and MiSeq 0.9234 deleterious
AK056332 2 228112254 intron A G PCR and MiSeq
AutG7273TTN 2 179447820 missense G T PCR and MiSeq 0.0112 neutral
AutG5049PAFAH1B2 11 117034592 missense C G PCR and MiSeq 0.9644 deleterious
AutG84519ACRBP 12 6752713 missense C T PCR and MiSeq 0.4983 neutral
AutG9320TRIP12 2 230701696 nonsense G A PCR and MiSeq
AutG51200CPA4 7 129938587 missense G T PCR and MiSeq 0.4554 neutral
AutG4774NFIA 1 61553905 nonsense C T PCR and MiSeq
AutG1186CLCN7 16 1510886 missense G T PCR and MiSeq 0.0516 neutral
AutG84725PLEKHA8 7 30101537 missense A G PCR and MiSeq 0.4576 neutral
AutG27131SNX5 20 17928186 missense G A PCR and MiSeq 0.0961 neutral
AutG90407TMEM41A 3 185209431 missense A G PCR and MiSeq 0.2869 neutral
AutG116986AGAP2 12 58131129 missense G C PCR and MiSeq 0.016 neutral
AutG353497POLN 4 2129967 intron G A PCR and MiSeq
AutG157769FAM91A1 8 124787443 nonsense C T PCR and MiSeq
AutG79782LRRC31 3 169579555 missense T A PCR and MiSeq 0.151 neutral
AutG285175UNC80 2 210745771 nonsense C T PCR and MiSeq
AutG66002CYP4F12 19 15791068 missense A C PCR and MiSeq 0.156 neutral
AutG126321C19orf28 19 3546431 intron G A PCR and MiSeq
AutG9378NRXN1 2 50724605 nonsense A T PCR and MiSeq
AutG287ANK2 4 114232545 nonsense C T PCR and MiSeq
AutG9778KIAA0232 4 6843914 nonsense C T PCR and MiSeq
AutG22993HMGXB3 5 149390017 missense C T PCR and MiSeq 0.0226 neutral
AutG4306NR3C2 4 149073677 nonsense G T PCR and MiSeq
AutG203859ANO5 11 22276997 nonsense C T PCR and MiSeq
AutG157680VPS13B 8 100168821 synonymous G A PCR and MiSeq
AutG64855FAM129B 9 130270790 missense C T PCR and MiSeq 0.4959 deleterious
AutG481ATP1B1 1 169096506 nonsense C T PCR and MiSeq
AutG57690TNRC6C 17 76067246 synonymous G A PCR and MiSeq
AutG8216LZTR1 22 21350080 missense G T PCR and MiSeq 0.9539 deleterious
AutG55631LRRC40 1 70614246 missense T A PCR and MiSeq 0.7601 deleterious
AutG23001WDFY3 4 85719152 nonsense T A PCR and MiSeq
AutG5603MAPK13 6 36106748 missense C T PCR and MiSeq 0.9189 deleterious
AutG642636RAD21L1 20 1210539 nonsense C T PCR and MiSeq
AutG8940TOP3B 22 22312975 missense A G PCR and MiSeq 0.8773 deleterious
AutG83659TEKT1 17 6716262 missense G T PCR and MiSeq 0.3407 neutral
C19orf15 19 38855701 missense G A PCR and MiSeq
AutG9891NUAK1 12 106461269 nonsense G A PCR and MiSeq
AutG19ABCA1 9 107589209 intron G T PCR and MiSeq
AutG54853WDR55 5 140048282 missense C T PCR and MiSeq 0.9866 deleterious
AutG283450C12orf51 12 112654745 intron G C PCR and MiSeq

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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