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
CENPE 4 104080217 A C NM_001286734 0.4636 deleterious 0 0 0
CLNK 4 10567654 T C NM_052964 0.0992 neutral 0.33 0.994 0.978
TET2 4 106155888 G T NM_001127208 0.8304 deleterious 0 0.953 0.631
TET2 4 106156163 G A NM_001127208 0.335 neutral 0 0.745 0.282
TET2 4 106157491 G A NM_001127208 0.0824 neutral 0 0.001 0
TET2 4 106180819 G T NM_001127208 0.9332 deleterious 0.01 1 0.99
TET2 4 106196675 C T NM_001127208 0.4219 neutral 0.15 1 0.982
TBCK 4 107165814 G C NM_001290768 0.4877 deleterious 0 0 0
TBCK 4 107168437 G C NM_033115 0.0236 neutral 0 0.001 0.015
LEF1 4 108984799 C T NM_001166119 0.3011 neutral 0 0.002 0.001
RRH 4 110763634 A G NM_006583 0.1169 neutral 0.2 0 0.004
TIFA 4 113199493 T G NM_052864 0.2625 neutral 0.23 0.001 0
ALPK1 4 113303646 G A NM_001102406 0.0826 neutral 0 0.913 0.172
ANK2 4 114214640 C G NM_001127493 0.0663 neutral 0 0.988 0.983
ANK2 4 114264189 C G NM_001127493 0.5164 deleterious 0 1 0.995
ANK2 4 114275103 G C NM_001148 0.8702 deleterious 0 0.999 0.995
ANK2 4 114279674 C A NM_001148 0.3595 neutral 0 0.988 0.885
ANK2 4 114280060 A T NM_001148 0.484 deleterious 0 0.989 0.836
ANK2 4 114294463 G A NM_001127493 0.2793 neutral 0 0.939 0.388
SPON2 4 1161406 A G NM_001128325 0.9998 deleterious 0 0 0

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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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