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
CACNA1C 12 2717804 G C NM_001129844 0.7328 deleterious 0 0.999 0.995
MED21 12 27180296 T G NM_001271811 0.8993 deleterious 0 0 0
CACNA1C 12 2800220 A G NM_001129846 0.7328 deleterious 0 0.979 0.801
FOXM1 12 2968180 G A NM_001243089 0.472 deleterious 0 1 1
RHNO1 12 2997411 A G NM_001252500 0.0055 neutral 0.39 0 0
TULP3 12 3047365 G C NM_001160408 0.6039 deleterious 0 0.846 0.333
SLC6A12 12 308075 A C NM_001122847 0.9963 deleterious 0 0 0
SLC6A13 12 332337 C T NM_001190997 0.6483 deleterious 0 0.911 0.532
SLC6A13 12 332363 G A NM_001190997 0.9896 deleterious 0 0.97 0.832
SLC6A13 12 346455 G A NM_016615 0.9947 deleterious 0 1 0.998
KIF21A 12 39726737 G A NM_001173465 0.4875 neutral 0 0.695 0.124
ABCD2 12 40013392 G C NM_005164 0.0808 neutral 0 0.046 0.029
CNTN1 12 41410611 A T NM_175038 0.6935 deleterious 0 0 0
PDZRN4 12 41967048 G A NM_013377 0.0006 neutral 0 0.008 0.038
PRICKLE1 12 42862463 C T NM_001144881 0.9421 deleterious 0 0 0
PRICKLE1 12 42864125 C G NM_001144881 0.3797 neutral 0 0 0
TWF1 12 44190856 G A NM_002822 0.9981 deleterious 0 1 1
SCAF11 12 46320311 G T NM_004719 0.5792 deleterious 0.01 0.965 0.541
KANSL2 12 49062942 G A NM_017822 0.882 deleterious 0 0.209 0.037
ADCY6 12 49168253 G A NM_015270 0.6341 deleterious 0.02 1 0.931

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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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