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
CYP27B1 12 58157512 C T NM_000785 0.9976 deleterious 0 1 1
AVIL 12 58201505 C G NM_006576 0.9732 deleterious 0.01 1 0.999
VWF 12 6094774 C T NM_000552 0.4329 neutral 0.01 0.969 0.639
VWF 12 6122757 C T NM_000552 0.1745 neutral 0.06 0.873 0.252
AVPR1A 12 63544381 G A NM_000706 0.3727 neutral 0 0.999 0.945
DPY19L2 12 64062118 G A NM_173812 0.3124 neutral 0 0.085 0.03
TBK1 12 64890764 C T NM_013254 0.3052 neutral 0 0.564 0.13
TBC1D30 12 65269243 C T NM_015279 0.002 neutral 0 0 0
LEMD3 12 65639657 A C NM_001167614 0.6219 deleterious 0 0 0
NCAPD2 12 6630268 T C NM_014865 0.4953 neutral 0.57 0.968 0.48
ACRBP 12 6752713 C T NM_032489 0.4983 neutral 0.01 1 0.918
ZNF384 12 6788667 T C NM_001039920 0.5865 deleterious 0 0.394 0.12
MDM1 12 68696451 G T NM_001205028 0.0765 neutral 0 1 0.999
MDM1 12 68720534 A G NM_001205028 0.0993 neutral 0 0.167 0.118
BEST3 12 70087547 G T NM_001282614 0.9519 deleterious 0 0 0
PTPRB 12 70946590 C T NM_001206971 0.9454 deleterious 0 1 1
PEX5 12 7362713 G A NM_001131024 0.0257 neutral 0.01 0.27 0.257
CD163L1 12 7551094 T C NM_174941 0.8797 deleterious 0.1 0.999 0.998
CD163 12 7647881 C G NM_004244 0.282 neutral 0.1 0.837 0.435
NAV3 12 78511923 G T NM_001024383 0.2031 neutral 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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