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
SLC35A3 1 100483370 A G NM_012243 0.9575 deleterious 0 0.001 0.004
UBE4B 1 10166514 G A NM_001105562 0.1772 neutral 0.49 0 0
COL11A1 1 103352554 C A NM_080630 0.516 deleterious 0 0.995 0.986
VAV3 1 108138879 G C NM_001079874 0.0623 neutral 0 0.02 0.032
FNDC7 1 109264962 C T NM_001144937 0.2558 neutral 0 0.992 0.513
STXBP3 1 109315441 G A NM_007269 0.715 deleterious 0.43 0.837 0.493
STXBP3 1 109321932 A G NM_007269 0.9404 deleterious 0.12 0.024 0.054
AMIGO1 1 110050709 G A NM_020703 0.0671 neutral 0.06 0 0.001
EPS8L3 1 110294811 C T NM_133181 0.0414 neutral 0 0.005 0.006
CSF1 1 110456998 C T NM_000757 0.159 neutral 0.01 0 0
SLC6A17 1 110740129 G A NM_001010898 0.9952 deleterious 0 0.975 0.847
SRM 1 11115912 C G NM_003132 0.9877 deleterious 0.01 0.996 0.944
MTOR 1 11190804 C T NM_004958 0.9631 deleterious 0.15 0.878 0.463
KCND3 1 112525092 C G NM_004980 0.9995 deleterious 0 1 1
KCND3 1 112525095 T A NM_004980 0.9999 deleterious 0 1 1
CTTNBP2NL 1 112999487 G A NM_018704 0.9747 deleterious 0.05 1 0.997
ST7L 1 113084629 T C NM_001308264 0.0379 neutral 0 0 0
MTOR 1 11316137 C T NM_004958 0.9882 deleterious 0 1 0.996
MOV10 1 113235478 G A NM_001286072 0.105 neutral 0 0 0
MOV10 1 113242329 A G NM_001286072 0.8942 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