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
WDR59 16 74927685 C T NM_030581 0.5995 deleterious 0.11 0.998 0.818
WWOX 16 79245541 G A NM_001291997 0.4867 neutral 0 0 0
CDYL2 16 80667073 G A NM_152342 0.1091 neutral 0 0.001 0.001
HSD17B2 16 82101873 G C NM_002153 0.939 deleterious 0.41 0.011 0.062
OSGIN1 16 83999440 G T NM_182981 0.0275 neutral 0 0 0
SLC38A8 16 84070481 C A NM_001080442 0.9665 deleterious 0.01 1 1
DNAAF1 16 84211403 C G NM_178452 0.0007 neutral 0.59 0.397 0.133
CHTF18 16 845754 C T NM_022092 0.951 deleterious 0 0.999 0.814
KLHL36 16 84695527 C T NM_001303451 0.7592 deleterious 0.19 0 0
ZDHHC7 16 85010808 T C NM_017740 0.0044 neutral 0.57 0 0
FAM92B 16 85133773 G A NM_198491 0.1362 neutral 0 0 0
FAM92B 16 85143894 G A NM_198491 0.9544 deleterious 0 0 0
GSE1 16 85682214 T C NM_001278184 0.9582 deleterious 0 0.999 0.996
GSE1 16 85691078 G A NM_001134473 0.3373 neutral 0 0 0
MAP1LC3B 16 87436582 A G NM_022818 0.4642 deleterious 0.15 0.002 0.002
JPH3 16 87678589 G A NM_020655 0.9901 deleterious 0.02 1 1
CA5A 16 87935559 G C NM_001739 0.5125 deleterious 0.01 0.524 0.393
ZNF469 16 88501044 G T NM_001127464 0.8819 deleterious 0.03 0.936 0.477
CTU2 16 88779854 C T NM_001012759 0.7748 deleterious 0 1 1
CTU2 16 88780568 C T NM_001012759 0.9589 deleterious 0 1 0.999

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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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