AutismKB 2.0

View Variant Prediction


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 Symbol Chr Position refNT altNT transcript iFish Probability iFish Prediction SIFT Polyhen2_HDIV Polyhen2_HVAR
CDC42BPB 14 103404494 C T NM_006035 0.1053 neutral 0.24 0.98 0.508
CDC42BPB 14 103405969 T C NM_006035 0.9787 deleterious 0.01 0.764 0.342
PPP1R13B 14 104205312 C T NM_015316 0.9109 deleterious 0.05 0.997 0.806
ADSSL1 14 105212710 G C NM_152328 0.0536 neutral 0.86 0 0.002
CEP170B 14 105354151 G A NM_015005 0.1495 neutral 0 0 0
PLD4 14 105398680 G T NM_138790 0.0342 neutral 0 0.054 0.044
AHNAK2 14 105410213 C T NM_138420 0.0596 neutral 0.18 0.989 0.727
AHNAK2 14 105411605 C G NM_138420 0.013 neutral 0.36 0.001 0.001
AHNAK2 14 105413494 G A NM_138420 0.0338 neutral 0.68 0.259 0.024
AHNAK2 14 105413930 C T NM_138420 0.0254 neutral 0.59 0.395 0.221
AHNAK2 14 105414377 C G NM_138420 0.001 neutral 0.56 0 0
AHNAK2 14 105416714 C T NM_138420 0.0351 neutral 0.08 0.659 0.477
AHNAK2 14 105423814 C T NM_138420 0.3307 neutral 0.09 1 0.989
AHNAK2 14 105423832 G A NM_138420 0.4526 neutral 0 0.999 0.948
JAG2 14 105617992 G A NM_002226 0.2807 neutral 0.04 0.253 0.045
BRF1 14 105707650 G A NM_001242786 0.978 deleterious 0 1 0.999
OR4K5 14 20389721 G A NM_001005483 0.1518 neutral 0.09 0.462 0.091
APEX1 14 20924167 G C NM_001244249 0.3289 neutral 0.01 0 0
APEX1 14 20925282 C G NM_001244249 0.2164 neutral 0.45 0 0
SUPT16H 14 21828671 C T NM_007192 0.9061 deleterious 0.17 1 0.976

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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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