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
MYO18B 22 26164470 C G NM_032608 0.0709 neutral 0 0.934 0.436
MYO18B 22 26224858 C T NM_032608 0.3962 neutral 0.23 0.461 0.269
ASPHD2 22 26838481 G C NM_020437 0.8996 deleterious 0.22 0.992 0.913
TFIP11 22 26902369 C T NM_001008697 0.3066 neutral 0.2 0 0
RFPL1 22 29838013 C T NM_021026 0.0108 neutral 0.87 0 0
NEFH 22 29884893 C G NM_021076 0.1959 neutral 0.25 0.031 0.01
GAL3ST1 22 30951564 G C NM_004861 0.9848 deleterious 0 0.998 0.974
OSBP2 22 31284288 C T NM_001282741 0.0227 neutral 0 0 0
SMTN 22 31487777 C T NM_006932 0.1703 neutral 0 0.971 0.388
PRR14L 22 32108904 A T NM_173566 0.5334 deleterious 0 1 0.998
PRR14L 22 32112105 T C NM_173566 0.1271 neutral 0 0.728 0.272
RTCB 22 32804767 T A NM_014306 0.8299 deleterious 0.77 0.998 0.967
MYH9 22 36684831 C T NM_002473 0.9995 deleterious 0 0.999 0.973
MYH9 22 36697021 C T NM_002473 0.9657 deleterious 0.05 1 0.95
CSF2RB 22 37332616 C T NM_000395 0.2874 neutral 0 0.989 0.845
TEX33 22 37398011 G A NM_001163857 0.0149 neutral 0.11 0.648 0.075
C1QTNF6 22 37578388 C T NM_031910 0.6247 deleterious 0 0 0
CARD10 22 37903943 C G NM_014550 0.6429 deleterious 0.01 0.966 0.573
TRIOBP 22 38131444 C G NM_001039141 0.4763 deleterious 0.16 0.072 0.016
TRIOBP 22 38131445 T G NM_001039141 0.6833 deleterious 0.85 0.001 0.001

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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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