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
C3orf52 3 111805385 C G NM_001171747 0.0957 neutral 0 0.992 0.924
SLC9C1 3 111886156 A C NM_183061 0.3529 neutral 0 0.144 0.035
CD200R1 3 112647684 G C NM_170780 0.5995 deleterious 0 0.994 0.854
SPICE1 3 113187041 C A NM_144718 0.9392 deleterious 0 1 1
GRAMD1C 3 113656968 C T NM_001172105 0.0888 neutral 0 0 0
QTRTD1 3 113795683 G A NM_001256836 0.8534 deleterious 0 1 0.997
POGLUT1 3 119205717 C T NM_152305 0.985 deleterious 0.01 1 0.997
MAATS1 3 119427440 C T NM_033364 0.1793 neutral 0.42 0.006 0.004
GSK3B 3 119582433 G T NM_001146156 0.7971 deleterious 0.02 0.379 0.37
STXBP5L 3 120628487 G A NM_001308330 0.0015 neutral 0 0 0
FBXO40 3 121340955 G A NM_016298 0.1245 neutral 0.52 0.982 0.452
GOLGB1 3 121413433 C A NM_001256488 0.0327 neutral 0 0 0
IQCB1 3 121500697 G A NM_001023571 0.1519 neutral 0 1 0.897
KPNA1 3 122215306 C T NM_002264 0.8911 deleterious 0 0 0
PARP14 3 122422695 A C NM_017554 0.054 neutral 0 0.138 0.018
SEMA5B 3 122646805 G A NM_001256348 0.8801 deleterious 0 1 0.998
PDIA5 3 122864390 T C NM_006810 0.753 deleterious 0 0.99 0.952
HEG1 3 124732039 G A NM_020733 0.1396 neutral 0.12 0.002 0.004
ALDH1L1 3 125822675 T G NM_001270365 0.1361 neutral 0 0.097 0.133
KLF15 3 126071150 C G NM_014079 0.1694 neutral 0.24 0.435 0.077

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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