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
ZNF778 16 89293712 G C NM_182531 0.0421 neutral 0 0.996 0.938
ANKRD11 16 89341340 T G NM_001256182 0.9304 deleterious 0 0 0
SPG7 16 89613072 C T NM_003119 0.1251 neutral 0.01 0.994 0.834
CHMP1A 16 89715851 G A NM_001083314 0.2603 neutral 0 1 0.944
ZNF276 16 89793731 C T NM_152287 0.6517 deleterious 0.07 0 0
FANCA 16 89816184 C T NM_000135 0.056 neutral 0 0.034 0.008
FANCA 16 89845355 C G NM_000135 0.9802 deleterious 0 0.992 0.862
TUBB3 16 90001686 G A NM_001197181 0.8187 deleterious 0 0 0
USP7 16 9002226 T C NM_001286458 0.4245 neutral 0 0 0
ABR 17 1003915 C T NM_021962 0.9818 deleterious 0 1 0.997
MYH8 17 10298599 C T NM_002472 0.9821 deleterious 0 0.978 0.9
MYH8 17 10298628 C G NM_002472 0.9847 deleterious 0 0.978 0.925
MYH4 17 10354727 T G NM_017533 0.9882 deleterious 0.01 0.849 0.649
MYH4 17 10355401 T C NM_017533 0.9986 deleterious 0 0.746 0.558
ADPRM 17 10614330 A G NM_020233 0.5333 deleterious 0.91 0.574 0.065
DNAH9 17 11806196 C T NM_004662 0.0434 neutral 0 0 0
DNAH9 17 11840819 G T NM_001372 0.6171 deleterious 0 0.974 0.928
MAP2K4 17 11924226 G A NM_001281435 0.0683 neutral 0 0 0
MAP2K4 17 11924235 G A NM_001281435 0.0256 neutral 0 0 0
MYOCD 17 12620732 C T NM_001146312 0.9079 deleterious 0 1 0.995

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  (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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