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
NRAP 10 115406755 C T NM_001261463 0.9697 deleterious 0 1 1
NRAP 10 115411623 G A NM_001261463 0.6316 deleterious 0 0.529 0.206
DCLRE1A 10 115602192 T A NM_001271816 0.3824 neutral 0 0 0
VWA2 10 116049011 C T NM_001272046 0.98 deleterious 0 1 1
FAM160B1 10 116620601 G A NM_001135051 0.0709 neutral 0 0.866 0.433
HSPA12A 10 118434404 C T NM_025015 0.9326 deleterious 0.16 0.999 0.981
RAB11FIP2 10 119768600 T A NM_014904 0.9575 deleterious 0 1 0.987
FAM45A 10 120877119 G A NM_001303111 0.0221 neutral 0 0 0
TIAL1 10 121336635 T C NM_003252 0.5673 deleterious 0 0.965 0.853
INPP5F 10 121579002 C G NM_001243194 0.003 neutral 0.27 0 0
FGFR2 10 123258119 T C NM_001144918 0.2544 neutral 0 0 0
TACC2 10 123985965 C T NM_001291876 0.0936 neutral 0 0 0
PLEKHA1 10 124183733 G T NM_001001974 0.0576 neutral 0 0 0
DMBT1 10 124345854 T A NM_017579 0.0054 neutral 0 0.019 0.007
CPXM2 10 125521594 G A NM_198148 0.0953 neutral 0.01 0.907 0.531
CAMK1D 10 12595343 C A NM_020397 0.8065 deleterious 0.31 0.002 0.009
MMP21 10 127461301 G A NM_147191 0.2405 neutral 0.46 0.249 0.091
DOCK1 10 129242541 C T NM_001380 0.5441 deleterious 0.02 0.382 0.028
MKI67 10 129906031 T A NM_002417 0.5591 deleterious 0 0.956 0.468
TCERG1L 10 132965082 C T NM_174937 0.0169 neutral 0.54 0.017 0.003

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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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