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
ELSPBP1 19 48519183 G A NM_022142 0.1511 neutral 0.36 0.766 0.322
LIG1 19 48624555 C T NM_001289064 0.4875 neutral 0 0 0
PLEKHA4 19 49341342 C T NM_020904 0.1521 neutral 0.15 0.029 0.002
PPP1R15A 19 49376683 A G NM_014330 0.0031 neutral 0.01 0.118 0.031
SCAF1 19 50156162 T C NM_021228 0.4643 deleterious 0 0.996 0.986
MADCAM1 19 501831 G C NM_130760 0.0052 neutral 1 0.001 0.006
MED25 19 50333455 C T NM_030973 0.1022 neutral 0.36 0.043 0.017
MYH14 19 50753076 G A NM_024729 0.5125 deleterious 0 1 0.896
MYH14 19 50783305 G T NM_024729 0.4875 neutral 0 0.002 0.013
KDM4B 19 5110672 G A NM_015015 0.4435 deleterious 0.15 1 0.93
SHANK1 19 51169513 C T NM_016148 0.0388 neutral 0.87 0.832 0.315
KLK1 19 51323488 C T NM_002257 0.0423 neutral 0.12 0.459 0.079
SIGLEC12 19 52004878 C T NM_053003 0.1747 neutral 0 1 0.999
SIGLEC5 19 52133140 C G NM_003830 0.6016 deleterious 0 0.996 0.883
ZNF836 19 52658231 C T NM_001102657 0.0023 neutral 0 0.84 0.114
ZNF766 19 52793889 G A NM_001010851 0.0003 neutral 0 0.039 0.003
ZNF665 19 53669453 T C NM_024733 0.0241 neutral 0.34 0.004 0.004
ZNF813 19 53994750 A C NM_001004301 0.0007 neutral 1 0.001 0
PRKCG 19 54395806 G T NM_001316329 0.5091 deleterious 0.02 0 0
CNOT3 19 54647460 T C NM_014516 0.7714 deleterious 0 0.896 0.575

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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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