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
LRRC30 18 7231443 G T NM_001105581 0.9725 deleterious 0.01 1 1
YES1 18 756622 G A NM_005433 0.784 deleterious 0.12 0.926 0.473
CTDP1 18 77464903 C A NM_001202504 0.6058 deleterious 0 0 0
ADNP2 18 77895382 T G NM_014913 0.9634 deleterious 0 1 0.999
PTPRM 18 8244097 G A NM_001105244 0.9768 deleterious 0 0.997 0.968
MTCL1 18 8783786 G A NM_015210 0.9024 deleterious 0 1 1
MTCL1 18 8784008 C T NM_015210 0.2162 neutral 0 1 0.949
NDUFV2 18 9122553 G A NM_021074 0.8098 deleterious 0.04 1 0.993
TXNDC2 18 9887371 C A NM_032243 0.0027 neutral 0 0 0
COL5A3 19 10085062 C T NM_015719 0.1232 neutral 0.13 0.999 0.966
GRIN3B 19 1008645 C A NM_138690 0.0719 neutral 0 0.1 0.029
COL5A3 19 10087238 G A NM_015719 0.1874 neutral 0.73 0.136 0.153
PPAN 19 10220615 C T NM_020230 0.1914 neutral 1 0.525 0.081
DNMT1 19 10250926 G A NM_001379 0.5125 deleterious 0.08 0.911 0.646
TYK2 19 10464269 C T NM_003331 0.8918 deleterious 0 0.985 0.899
ABCA7 19 1063613 G A NM_019112 0.9867 deleterious 0 1 1
DNM2 19 10906796 A C NM_001005360 0.9962 deleterious 0.09 0.957 0.906
SMARCA4 19 11096052 C T NM_001128844 0.1163 neutral 0 0 0
SMARCA4 19 11096936 C G NM_001128844 0.0926 neutral 0 0 0
SMARCA4 19 11097060 T C NM_001128844 0.5145 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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