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
TGM3 20 2291665 G A NM_003245 0.993 deleterious 0 0.995 0.578
TGM3 20 2321207 T C NM_003245 0.1609 neutral 0.25 0.013 0.006
CST9 20 23584346 A G NM_001008693 0.3312 neutral 0 0.984 0.903
APMAP 20 24952147 G A NM_020531 0.5479 deleterious 0.03 0.998 0.847
NINL 20 25439036 G A NM_025176 0.0511 neutral 0.04 0.97 0.27
C20orf96 20 259956 C A NM_080571 0.0396 neutral 0 0 0
CPXM1 20 2775267 C T NM_001184699 0.0953 neutral 0 0 0
FOXS1 20 30432906 G A NM_004118 0.5142 deleterious 0.1 0.015 0.01
DUSP15 20 30450489 G A NM_080611 0.8054 deleterious 0 1 0.979
TTLL9 20 30497577 G A NM_001008409 0.8782 deleterious 0 1 0.99
TM9SF4 20 30732948 C T NM_014742 0.1803 neutral 0 0.033 0.041
TM9SF4 20 30738473 T A NM_014742 0.9985 deleterious 0 0.908 0.83
ASXL1 20 31021466 C T NM_015338 0.333 neutral 0 0.997 0.517
ASXL1 20 31022346 G A NM_015338 0.4962 deleterious 0 0.998 0.794
DDRGK1 20 3181055 G A NM_023935 0.4348 neutral 0.31 0.78 0.173
SLC4A11 20 3218211 T C NM_001174089 0.0068 neutral 0 0.008 0.007
CBFA2T2 20 32194858 C G NM_001039709 0.2689 neutral 0 0 0
RALY 20 32664866 G A NM_007367 0.0016 neutral 0 0 0.003
NCOA6 20 33330216 C T NM_014071 0.7473 deleterious 0.43 1 0.996
GGT7 20 33449275 C A NM_178026 0.052 neutral 1 0.005 0.011

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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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