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
ADAMTS7 15 79058739 G A NM_014272 0.0603 neutral 0.03 0.999 0.941
KIAA1024 15 79750388 A T NM_015206 0.191 neutral 0 0.883 0.444
CEMIP 15 81224214 G C NM_001293298 0.7605 deleterious 0 0 0
AP3B2 15 83348481 C G NM_001278511 0.6582 deleterious 0 0 0
NMB 15 85198631 G A NM_205858 0.0153 neutral 0.6 0.004 0.018
ALPK3 15 85401772 A G NM_020778 0.0135 neutral 0.04 0.322 0.026
AKAP13 15 86123268 G A NM_006738 0.0956 neutral 0.07 0.36 0.139
AKAP13 15 86123851 C T NM_006738 0.0182 neutral 0.7 0.002 0.003
KLHL25 15 86311780 G A NM_022480 0.1766 neutral 0.14 0.001 0.005
ISG20 15 89198692 T C NM_001303237 0.0866 neutral 0 0 0
TICRR 15 90144779 T G NM_001308025 0.0548 neutral 0 0 0
WDR93 15 90245033 G A NM_001284395 0.0047 neutral 0.02 0 0
ZNF710 15 90611437 C G NM_198526 0.9981 deleterious 0 1 0.999
SEMA4B 15 90763059 C T NM_020210 0.0023 neutral 0.03 0 0
SEMA4B 15 90771256 C T NM_020210 0.0299 neutral 0.13 0 0
ZNF774 15 90904162 A G NM_001004309 0.9342 deleterious 0.02 1 0.993
CRTC3 15 91150689 G T NM_001042574 0.0862 neutral 0 0.004 0.008
BLM 15 91290665 C T NM_000057 0.4875 neutral 0.02 1 0.828
MAN2A2 15 91449143 A G NM_006122 0.9492 deleterious 0 0.354 0.273
SV2B 15 91825013 T A NM_001167580 0.503 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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