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
CASC5 15 40916097 C T NM_144508 0.0143 neutral 0 0.228 0.033
RAD51 15 41022135 A G NM_002875 0.8392 deleterious 0.48 0.07 0.075
RMDN3 15 41044271 A T NM_001304802 0.6607 deleterious 0 0 0
RTF1 15 41745214 A C NM_015138 0.4068 neutral 0.22 0.043 0.025
LTK 15 41796800 C T NM_001135685 0.2065 neutral 0 1 1
LTK 15 41801298 A G NM_001135685 0.8418 deleterious 0 0.994 0.944
TYRO3 15 41853769 G A NM_006293 0.1123 neutral 0.59 0.023 0.001
MGA 15 42021512 T C NM_001080541 0.1557 neutral 0 0.994 0.808
MGA 15 42058538 G A NM_001080541 0.1557 neutral 0 0.889 0.536
MAPKBP1 15 42116026 G T NM_014994 0.0027 neutral 0 0.448 0.219
SPTBN5 15 42142103 C T NM_016642 0.0629 neutral 0.91 0.012 0.011
SPTBN5 15 42168347 G C NM_016642 0.0628 neutral 0.22 0.669 0.192
TMEM87A 15 42528588 G A NM_001286487 0.607 deleterious 0 0 0
ZNF106 15 42717184 G A NM_022473 0.9946 deleterious 0.04 1 1
STARD9 15 43011023 G A NM_020759 0.3513 neutral 0 0 0
CDAN1 15 43022806 G A NM_138477 0.5125 deleterious 0 0.987 0.528
EPB42 15 43507463 C T NM_000119 0.0206 neutral 0 0.024 0.004
TGM7 15 43579545 C A NM_052955 0.986 deleterious 0 1 1
TUBGCP4 15 43692324 C T NM_014444 0.1816 neutral 0 0.67 0.149
TP53BP1 15 43705517 C T NM_005657 0.0842 neutral 0.01 0.974 0.726

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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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