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
FUT8 14 66096265 C T NM_004480 0.6408 deleterious 0 0 0
RDH11 14 68159269 C T NM_001252650 0.3806 neutral 0.07 0.877 0.739
ZFYVE26 14 68242625 C T NM_015346 0.9324 deleterious 0 1 0.999
DCAF5 14 69589039 G T NM_001284207 0.0048 neutral 0 0 0
EXD2 14 69701564 G C NM_018199 0.9877 deleterious 0 1 0.998
SLC8A3 14 70633411 C T NM_033262 0.0421 neutral 0 1 0.997
DCAF4 14 73420965 G C NM_181340 0.0126 neutral 0 0 0
PAPLN 14 73729315 G A NM_173462 0.0581 neutral 0.63 0.029 0.005
NUMB 14 73743597 G A NM_001005745 0.4204 neutral 0 0.087 0.083
ALDH6A1 14 74533566 C G NM_001278594 0.931 deleterious 0 0 0
VSX2 14 74711878 A G NM_182894 0.9789 deleterious 0 0.995 0.988
LTBP2 14 74976452 C T NM_000428 0.0997 neutral 0.02 0.643 0.342
AREL1 14 75142520 G A NM_001039479 0.8926 deleterious 0.26 0.736 0.205
YLPM1 14 75266198 C T NM_019589 0.8923 deleterious 0 1 0.999
ESRRB 14 76928944 C T NM_004452 0.9775 deleterious 0 1 0.988
ANGEL1 14 77275558 G A NM_015305 0.0949 neutral 0.38 0.003 0.009
ZDHHC22 14 77600191 C A NM_174976 0.6889 deleterious 0.06 0.911 0.753
NRXN3 14 79434627 G A NM_004796 0.9232 deleterious 0 1 0.908
NRXN3 14 80158587 G A NM_001105250 0.9857 deleterious 0 0.922 0.549
ZC3H14 14 89041133 G C NM_207661 0.6764 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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