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
RTN4IP1 6 107040160 C A NM_032730 0.3971 neutral 0 0.818 0.417
BEND3 6 107391881 T C NM_001080450 0.0941 neutral 0 0.002 0.007
BEND3 6 107419781 C T NM_001080450 0.8119 deleterious 0 0.488 0.09
GCM2 6 10874703 C T NM_004752 0.3701 neutral 0.35 0.049 0.026
FOXO3 6 108985226 C G NM_001455 0.9437 deleterious 0 0 0
SESN1 6 109309811 T G NM_001199934 0.6379 deleterious 0.07 0 0
CEP57L1 6 109477060 G A NM_001083535 0.3418 neutral 0 0 0
CDK19 6 110942509 G C NM_001300963 0.8739 deleterious 0.56 0 0
REV3L 6 111714164 G A NM_001286431 0.0785 neutral 0 0 0
WISP3 6 112389528 A G NM_003880 0.2043 neutral 0.64 0.101 0.089
FRK 6 116325108 G A NM_002031 0.1556 neutral 0 0 0.002
GPRC6A 6 117113315 G A NM_001286354 0.0138 neutral 0 0 0
ADTRP 6 11723582 C T NM_032744 0.3085 neutral 0 0.148 0.055
RFX6 6 117248533 C A NM_173560 0.058 neutral 0 0.962 0.52
ROS1 6 117725523 T G NM_002944 0.1384 neutral 0 0.78 0.502
HIVEP1 6 12163802 G A NM_002114 0.8437 deleterious 0 1 0.995
LAMA2 6 129371158 G C NM_000426 0.2918 neutral 0 0.997 0.994
LAMA2 6 129468180 A C NM_000426 0.7211 deleterious 0 0.939 0.739
LAMA2 6 129513850 T A NM_000426 0.7211 deleterious 0 0.992 0.879
MYB 6 135507151 G A NM_001130172 0.9898 deleterious 0 0.997 0.715

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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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