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
ARID1B 6 157528178 A G NM_017519 0.0832 neutral 0 0.996 0.892
ZDHHC14 6 158094104 T C NM_153746 0.183 neutral 0 0.958 0.466
TULP4 6 158735185 T C NM_001007466 0.9965 deleterious 0 0.999 0.997
TULP4 6 158924672 T G NM_020245 0.3438 neutral 0.01 0.884 0.56
SYTL3 6 159184512 G A NM_001009991 0.4927 deleterious 0 0.998 0.906
IGF2R 6 160494299 G A NM_000876 0.0052 neutral 0.57 0 0.001
IGF2R 6 160524825 A G NM_000876 0.0036 neutral 0.54 0.001 0.003
LPA 6 160998168 G A NM_005577 0.0495 neutral 0 0 0
PLG 6 161139767 G T NM_000301 0.186 neutral 0.72 0 0.003
MAP3K4 6 161470544 T G NM_001301072 0.0126 neutral 0 0 0
MAP3K4 6 161508880 A C NM_001291958 0.0058 neutral 0 0 0
TTLL2 6 167753792 A G NM_031949 0.5216 deleterious 0.33 0.991 0.892
TTLL2 6 167754551 A G NM_031949 0.4852 deleterious 0 1 1
MLLT4 6 168276026 G A NM_001291964 0.4142 neutral 0 0 0
MLLT4 6 168298969 G A NM_001291964 0.8756 deleterious 0 0 0
FRMD1 6 168462591 G A NM_001122841 0.0251 neutral 0 0.13 0.06
WDR27 6 170065622 G A NM_001202550 0.0009 neutral 0 0.078 0.079
ERMARD 6 170175414 C T NM_001278532 0.0607 neutral 0 0 0
FAM120B 6 170627656 C G NM_032448 0.6476 deleterious 0 0.986 0.656
FAM120B 6 170627963 A C NM_032448 0.0319 neutral 0 0.982 0.808

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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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