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
MYH7B 20 33567509 C G NM_020884 0.3484 neutral 0 0 0
UQCC1 20 33891824 C T NM_001184977 0.3898 neutral 0 0.374 0.194
UQCC1 20 33969789 T C NM_018244 0.2426 neutral 0 0.765 0.351
CEP250 20 34064340 C T NM_007186 0.6856 deleterious 0 0 0
ERGIC3 20 34130278 A G NM_015966 0.8567 deleterious 0 0.985 0.84
RBM12 20 34243229 G A NM_001198838 0.0185 neutral 0 0 0
EPB41L1 20 34765932 A G NM_001258330 0.9995 deleterious 0 1 1
EPB41L1 20 34773214 C T NM_001258331 0.752 deleterious 0 0.995 0.837
NDRG3 20 35350135 C T NM_022477 0.4418 neutral 0 0.763 0.382
SIGLEC1 20 3673614 G A NM_023068 0.7159 deleterious 0 1 0.956
SIGLEC1 20 3675396 G A NM_023068 0.3256 neutral 0 0.85 0.485
KIAA1755 20 36869368 C T NM_001029864 0.0673 neutral 0.36 0.02 0.007
RALGAPB 20 37150314 A G NM_001282917 0.933 deleterious 0.22 0 0
ACTR5 20 37380784 A G NM_024855 0.6204 deleterious 0.95 0.193 0.185
PANK2 20 3891360 A G NM_153638 0.5761 deleterious 0.13 0.007 0.013
TOP1 20 39742794 G A NM_003286 0.7825 deleterious 0.35 0.454 0.032
EMILIN3 20 39991214 A G NM_052846 0.942 deleterious 0 0.998 0.896
CHD6 20 40143580 C T NM_032221 0.7992 deleterious 0 0.996 0.954
PTPRT 20 41385165 G A NM_007050 0.9841 deleterious 0 1 1
SRSF6 20 42089673 A T NM_006275 0.2736 neutral 0.05 0.041 0.037

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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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