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
PLEKHM1 17 43535724 T C NM_014798 0.0013 neutral 0 0.006 0.004
SPNS3 17 4391185 C G NM_182538 0.0694 neutral 0 0.531 0.168
GGT6 17 4463713 A G NM_001122890 0.3444 neutral 0 0.93 0.564
WNT9B 17 44950046 G A NM_003396 0.6554 deleterious 0 0.978 0.778
CDC27 17 45219311 T C NM_001293091 0.0257 neutral 0 0 0
SCRN2 17 45915703 T C NM_001145023 0.0723 neutral 0 0.001 0.002
HOXB7 17 46685259 C A NM_004502 0.532 deleterious 0.27 0.44 0.118
MINK1 17 4789777 T C NM_001024937 0.9973 deleterious 0 0.998 0.994
DLX4 17 48050479 G C NM_138281 0.3055 neutral 0.02 0.001 0.003
RNF167 17 4847898 A G NM_015528 0.9433 deleterious 0.3 0 0
ACSF2 17 48539642 C T NM_001288970 0.1823 neutral 0 0 0
ENO3 17 4858791 C T NM_001193503 0.077 neutral 0 0.144 0.031
CACNA1G 17 48680533 G A NM_001256332 0.8888 deleterious 0 0.999 0.998
ANKRD40 17 48776796 A G NM_052855 0.0999 neutral 0.17 0.114 0.034
WFIKKN2 17 48917850 C T NM_175575 0.5383 deleterious 0 1 0.999
INCA1 17 4892121 T C NM_001167985 0.0065 neutral 0 0 0
CA10 17 50235121 A G NM_001082533 0.5125 deleterious 0 0 0
RABEP1 17 5276712 A G NM_001291581 0.3159 neutral 0 0 0
PCTP 17 53848508 T C NM_021213 0.9432 deleterious 0.01 1 0.996
NLRP1 17 5456733 C T NM_001033053 0.0065 neutral 1 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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