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
AHI1 6 135611614 C A NM_001134830 0.4875 neutral 0 0 0
AHI1 6 135644371 T C NM_001134830 0.5125 deleterious 0 0 0
AHI1 6 135774505 G A NM_001134830 0.5125 deleterious 0 0 0
RANBP9 6 13625977 G A NM_005493 0.9959 deleterious 0 0.999 0.997
BCLAF1 6 136582483 G C NM_001077441 0.9332 deleterious 0 0.902 0.876
BCLAF1 6 136597435 G C NM_001077440 0.4144 neutral 1 0.89 0.329
MAP7 6 136682268 G T NM_001198618 0.4981 deleterious 0 0 0
PERP 6 138428392 G C NM_022121 0.903 deleterious 0 1 0.997
REPS1 6 139265115 G A NM_001128617 0.4186 neutral 0 0.161 0.116
TXLNB 6 139598010 G A NM_153235 0.4191 neutral 0 0 0
HIVEP2 6 143094725 G A NM_006734 0.9885 deleterious 0 1 0.996
UTRN 6 144783895 A G NM_007124 0.642 deleterious 0 0.054 0.021
UTRN 6 144811319 A G NM_007124 0.5325 deleterious 0.04 0.514 0.152
UTRN 6 144854342 G A NM_007124 0.4885 neutral 0.5 0.154 0.219
FBXO30 6 146121343 C G NM_032145 0.4894 deleterious 0.02 0.999 0.858
FBXO30 6 146126163 G A NM_032145 0.9971 deleterious 0 1 0.998
SHPRH 6 146266701 T C NM_001042683 0.8233 deleterious 0.12 0.998 0.911
STXBP5 6 147635108 C G NM_001127715 0.0187 neutral 0 0.001 0.01
STXBP5 6 147635412 A G NM_001127715 0.0088 neutral 0 0 0.004
STXBP5 6 147636753 A G NM_001127715 0.2352 neutral 0 0.911 0.387

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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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