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
CEP192 18 13019104 A G NM_032142 0.0024 neutral 0.18 0 0.001
RNMT 18 13746286 A G NM_001308263 0.2884 neutral 0 0 0
MIB1 18 19444568 C T NM_020774 0.8913 deleterious 0.04 0.996 0.978
C18orf8 18 21100180 C A NM_001276342 0.1291 neutral 0 0.94 0.503
NPC1 18 21134914 G A NM_000271 0.0324 neutral 0.23 0.005 0.009
LAMA3 18 21427428 C T NM_001127717 0.3486 neutral 0 0.443 0.095
CDH2 18 25589713 G A NM_001308176 0.2473 neutral 0 0 0
NDC80 18 2595619 C T NM_006101 0.0975 neutral 0.18 0.18 0.032
SMCHD1 18 2666192 A G NM_015295 0.2896 neutral 0 0.761 0.358
SMCHD1 18 2743776 A G NM_015295 0.0848 neutral 0 0.001 0.003
DSG1 18 28926066 T C NM_001942 0.8776 deleterious 0.57 0.995 0.912
DSG2 18 29099844 G A NM_001943 0.4636 deleterious 0.38 0.96 0.257
KLHL14 18 30260416 G A NM_020805 0.9887 deleterious 0.33 0.999 0.989
KLHL14 18 30349680 T C NM_020805 0.9533 deleterious 0 0.014 0.004
KLHL14 18 30349686 C A NM_020805 0.9914 deleterious 0 0.98 0.962
ASXL3 18 31326012 T G NM_030632 0.7358 deleterious 0.11 0.994 0.844
MYOM1 18 3135575 T C NM_003803 0.5 deleterious 0 0.946 0.688
MYOM1 18 3135644 C T NM_003803 0.5 deleterious 0 1 0.99
MYOM1 18 3215083 T C NM_003803 0.3408 neutral 0 0.199 0.079
COLEC12 18 321720 C A NM_130386 0.9995 deleterious 0 1 1

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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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