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
PAPOLG 2 61014164 C A NM_022894 0.7203 deleterious 0 0.99 0.957
USP34 2 61415298 A G NM_014709 0.7163 deleterious 0 0.421 0.041
UGP2 2 64113658 A G NM_001001521 0.6709 deleterious 0 0 0
VPS54 2 64120568 C A NM_001005739 0.0274 neutral 0 1 0.998
PELI1 2 64322284 G A NM_020651 0.6384 deleterious 0.21 0.362 0.242
SLC1A4 2 65245299 G A NM_003038 0.9971 deleterious 0 0.998 0.904
CEP68 2 65299420 T C NM_015147 0.1928 neutral 0 0.047 0.039
APLF 2 68794483 C A NM_173545 0.5059 deleterious 0.03 0.997 0.996
ANTXR1 2 69409650 C T NM_032208 0.9592 deleterious 0 1 1
C2orf42 2 70392261 T C NM_017880 0.2899 neutral 0.11 0.009 0.007
PCYOX1 2 70502099 G A NM_016297 0.8623 deleterious 0 1 0.961
FAM136A 2 70529121 C A NM_032822 0.8417 deleterious 0.05 0.023 0.038
CD207 2 71062628 C T NM_015717 0.1061 neutral 0.37 0.005 0.001
ATP6V1B1 2 71190722 G A NM_001692 0.9249 deleterious 0 0.999 0.977
ZNF638 2 71635358 C G NM_001014972 0.0139 neutral 0.15 0 0
ZNF638 2 71649966 A G NM_001014972 0.0081 neutral 0.58 0 0
DYSF 2 71788955 C T NM_001130976 0.5439 deleterious 0 0 0.001
CYP26B1 2 72362470 G A NM_019885 0.8497 deleterious 0.04 1 0.964
RAB11FIP5 2 73339563 G A NM_015470 0.918 deleterious 0 1 0.972
ALMS1 2 73800198 A C NM_015120 0.1971 neutral 0 0.999 0.947

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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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