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
TSC2 16 2110765 C T NM_000548 0.8115 deleterious 0.05 0.415 0.079
TSC2 16 2112558 G A NM_000548 0.9995 deleterious 0.35 1 0.999
TSC2 16 2120487 G A NM_000548 0.9999 deleterious 0.02 1 0.997
TSC2 16 2121536 G A NM_000548 0.9998 deleterious 0.01 0.999 0.986
TSC2 16 2121617 T C NM_000548 0.1581 neutral 0.58 0.005 0.016
TSC2 16 2121873 G A NM_000548 0.0609 neutral 0.13 0.825 0.456
TSC2 16 2122297 G C NM_000548 0.9166 deleterious 0.17 0.999 0.996
TSC2 16 2131695 C T NM_001077183 0.4408 deleterious 0 1 0.994
TSC2 16 2134508 G T NM_001077183 0.0506 neutral 0 0 0.002
TSC2 16 2137939 A G NM_001077183 0.4191 deleterious 0 0.004 0.024
TSC2 16 2138546 G A NM_001077183 0.0303 neutral 0 0 0.001
TSC2 16 2138600 G A NM_001077183 0.4866 deleterious 0 0.999 0.962
UQCRC2 16 21987556 A T NM_003366 0.658 deleterious 0.08 0.951 0.714
TRAF7 16 2226080 C T NM_032271 0.6017 deleterious 0.01 1 0.918
POLR3E 16 22339847 C T NM_001258034 0.9569 deleterious 0 0.536 0.164
SCNN1G 16 23224460 G A NM_001039 0.2753 deleterious 0.86 0.001 0.001
ERN2 16 23718354 C T NM_001308220 0.7685 deleterious 0 0 0
PRKCB 16 24105500 G A NM_002738 0.8967 deleterious 0.05 0.989 0.891
TNRC6A 16 24815534 A G NM_014494 0.1506 neutral 0 0.557 0.447
TNRC6A 16 24835108 G T NM_014494 0.998 deleterious 0 1 0.996

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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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