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
C9orf50 9 132375739 A G NM_199350 0.0164 neutral 0.21 0.05 0.022
MPDZ 9 13247770 C T NM_001261406 0.5125 deleterious 0 1 0.999
ABL1 9 133759724 T C NM_005157 0.7075 deleterious 0.28 0.009 0.012
LAMC3 9 133914290 A G NM_006059 0.5885 deleterious 0 1 0.999
LAMC3 9 133942350 G A NM_006059 0.672 deleterious 0 0.615 0.148
POMT1 9 134396829 C T NM_001136114 0.5125 deleterious 0 0 0
NTNG2 9 135073659 G T NM_032536 0.9502 deleterious 0 0.955 0.985
SETX 9 135153629 C T NM_015046 0.5273 deleterious 0.11 0.876 0.901
TTF1 9 135278051 T C NM_007344 0.0062 neutral 0 0.053 0.01
TSC1 9 135804244 T C NM_000368 0.7266 deleterious 0.02 0.053 0.022
ADAMTS13 9 136319589 G A NM_139026 0.3983 neutral 0 0.999 0.931
VAV2 9 136633668 C T NM_003371 0.9262 deleterious 0 1 0.968
BRD3 9 136913560 C T NM_007371 0.9832 deleterious 0.03 1 0.947
MRPS2 9 138392846 G T NM_016034 0.0118 neutral 0.83 0.063 0.017
SOHLH1 9 138586263 G T NM_001012415 0.1108 neutral 0 1 0.974
QSOX2 9 139108459 T C NM_181701 0.685 deleterious 0.12 0.965 0.55
GPSM1 9 139231956 G A NM_001145638 0.6661 deleterious 0 1 0.998
PMPCA 9 139313507 G C NM_001282944 0.6124 deleterious 0 0 0
SEC16A 9 139371548 G A NM_001276418 0.0984 neutral 0 0.025 0.008
NOTCH1 9 139390959 G A NM_017617 0.0181 neutral 0.81 0.037 0.011

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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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