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
MYT1L 2 1921079 A G NM_015025 0.9774 deleterious 0 1 1
DNAH7 2 196729541 C A NM_018897 0.0296 neutral 0.03 0.172 0.129
DNAH7 2 196891487 T C NM_018897 0.0419 neutral 0.34 0.059 0.068
HECW2 2 197084846 T C NM_001304840 0.5952 deleterious 0 0 0
SF3B1 2 198274638 A G NM_012433 0.9884 deleterious 0.02 0.987 0.794
SF3B1 2 198281565 G A NM_012433 0.1313 neutral 0.26 0.002 0.002
HSPE1-MOB4 2 198388394 C T NM_001202485 0.3833 neutral 0 0 0
WDR35 2 20138107 C G NM_020779 0.5125 deleterious 0.2 1 1
AOX1 2 201464413 C T NM_001159 0.5919 deleterious 0.01 0.986 0.87
ALS2 2 202569184 G A NM_020919 0.9996 deleterious 0 1 1
ICA1L 2 203693714 G A NM_001288622 0.2719 neutral 0.48 0 0
ZDBF2 2 207171918 T C NM_001285549 0.0019 neutral 0 0 0
ZDBF2 2 207173105 A T NM_001285549 0.0241 neutral 0 0 0
ZDBF2 2 207175071 C T NM_001285549 0.0256 neutral 0 0 0
ZDBF2 2 207176286 C T NM_001285549 0.141 neutral 0 0 0
FASTKD2 2 207631493 T C NM_001136193 0.0479 neutral 0 0.006 0.004
PLEKHM3 2 208842276 C G NM_001080475 0.0102 neutral 0 0.997 0.879
PIKFYVE 2 209167007 G A NM_152671 0.9779 deleterious 0 0.999 0.992
CPS1 2 211466977 C T NM_001122634 0.566 deleterious 0 0 0
APOB 2 21229188 T G NM_000384 0.5468 deleterious 0.01 0.932 0.738

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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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