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
TMEM94 17 73491637 C T NM_014738 0.4471 neutral 0.02 1 0.998
TSEN54 17 73520380 C T NM_207346 0.1618 neutral 0.01 0.998 0.431
LLGL2 17 73568032 G A NM_001031803 0.9951 deleterious 0 1 1
POLR2A 17 7388093 G T NM_000937 0.7136 deleterious 0 0.996 0.75
FBF1 17 73906883 C G NM_001080542 0.5485 deleterious 0 0.936 0.797
FBF1 17 73915803 G A NM_001080542 0.1756 neutral 0 1 0.983
ACOX1 17 73944496 G A NM_001185039 0.2385 neutral 0 0.998 0.869
EVPL 17 74013881 C T NM_001988 0.655 deleterious 0 1 0.965
POLR2A 17 7416351 T A NM_000937 0.881 deleterious 0 0.002 0.003
UBE2O 17 74392872 C G NM_022066 0.8323 deleterious 0.29 0.994 0.796
SEC14L1 17 75201419 G A NM_001144001 0.4015 neutral 0 0 0
SEPT9 17 75398290 C T NM_001293695 0.1353 neutral 0 0 0
AFMID 17 76183461 G T NM_001010982 0.2181 neutral 0 0.005 0.005
DNAH17 17 76420174 G A NM_173628 0.1593 neutral 0 0 0
DNAH17 17 76475120 G A NM_173628 0.0434 neutral 0 0 0
DNAH2 17 7664160 G A NM_020877 0.012 neutral 0 0.096 0.029
DNAH2 17 7671509 A T NM_020877 0.0061 neutral 0 0.009 0.034
LGALS3BP 17 76967677 T C NM_005567 0.3006 neutral 0 0.993 0.968
DNAH2 17 7699902 G A NM_020877 0.0658 neutral 0 0.974 0.746
KDM6B 17 7755277 G A NM_001080424 0.4567 neutral 0 0.987 0.974

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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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