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
OGDH 7 44734101 A G NM_001165036 0.7917 deleterious 0 0.087 0.081
ZMIZ2 7 44802861 G A NM_001300959 0.3366 neutral 0 0 0
MYO1G 7 45004575 C T NM_033054 0.4755 neutral 1 0 0.001
MYO1G 7 45009432 G A NM_033054 0.5 deleterious 0 0.919 0.773
CCM2 7 45067319 C T NM_001029835 0.0056 neutral 0 0.001 0
ADCY1 7 45747949 G A NM_021116 0.9042 deleterious 0 0.005 0.002
C7orf57 7 48086151 G A NM_001100159 0.4 neutral 0.04 0.638 0.167
ABCA13 7 48287839 C T NM_152701 0.177 neutral 0.01 0.993 0.446
ABCA13 7 48318773 A G NM_152701 0.0545 neutral 0 0.799 0.34
ABCA13 7 48390312 A G NM_152701 0.5617 deleterious 0.03 0.992 0.766
IKZF1 7 50467738 G C NM_001291844 0.121 neutral 0 0 0
COBL 7 51287624 C G NM_001287436 0.9893 deleterious 0 0 0
TNRC18 7 5348876 T C NM_001080495 0.4172 neutral 0 0.997 0.994
ACTB 7 5567393 G A NM_001101 0.856 deleterious 0 0 0
ACTB 7 5567705 A G NM_001101 0.9641 deleterious 0 0 0
RNF216 7 5752394 C T NM_207116 0.6694 deleterious 0 0.797 0.186
PRKAR1B 7 624187 G A NM_001164758 0.9739 deleterious 0 0 0
ZNF138 7 64292065 C T NM_001271638 0.0062 neutral 0 0.009 0.016
ASL 7 65547355 G A NM_000048 0.9001 deleterious 0.01 0.981 0.802
C7orf26 7 6631481 G T NM_001303039 0.6778 deleterious 0 0 0

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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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