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
PRKCA 17 64683232 G A NM_002737 0.1093 neutral 0 0.007 0.017
KIAA0753 17 6499494 C T NM_014804 0.5525 deleterious 0 1 0.998
AMZ2 17 66251859 G A NM_001033574 0.6958 deleterious 0.02 1 0.988
ABCA9 17 67023524 C T NM_080283 0.3979 neutral 0.03 0.923 0.559
ABCA6 17 67136812 T G NM_080284 0.9731 deleterious 0 1 0.998
TEKT1 17 6716262 G T NM_053285 0.3407 neutral 0.03 0.299 0.285
MAP2K6 17 67513027 A T NM_002758 0.9491 deleterious 0 0.865 0.588
MAP2K6 17 67513031 C T NM_002758 0.5143 deleterious 0 0.039 0.068
ALOX12 17 6913580 C A NM_000697 0.8358 deleterious 0.01 1 0.999
COG1 17 71192877 G C NM_018714 0.1374 neutral 0.04 0.999 0.949
GPR142 17 72366761 G A NM_181790 0.2977 neutral 0.19 0.148 0.055
ACAP1 17 7251713 C T NM_014716 0.0546 neutral 0.05 0.991 0.446
GRIN2C 17 72840498 C T NM_000835 0.2541 neutral 0.21 0.99 0.656
OTOP3 17 72943142 G A NM_001272005 0.0331 neutral 0 0 0
HID1 17 72956159 C A NM_030630 0.9847 deleterious 0 0.454 0.266
SLC16A5 17 73096566 G A NM_001271765 0.2471 neutral 0 0.848 0.328
NLGN2 17 7318418 C T NM_020795 0.9824 deleterious 0 1 1
NLGN2 17 7319134 C T NM_020795 0.9841 deleterious 0 1 1
NUP85 17 73221527 G A NM_001303276 0.0326 neutral 0 0 0
TMEM94 17 73487233 C T NM_014738 0.4963 deleterious 0 1 0.996

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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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