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
SYT1 12 79689961 C G NM_001291901 0.8781 deleterious 0 0 0
MGAT4C 12 86373419 C T NM_013244 0.3351 neutral 0 0.553 0.091
CEP290 12 88472996 C T NM_025114 0.1979 neutral 0 0.466 0.048
CEP290 12 88508258 T C NM_025114 0.2219 neutral 0 0.971 0.71
A2M 12 9225335 G A NM_000014 0.7415 deleterious 0.05 0.72 0.12
PZP 12 9317793 C G NM_002864 0.7415 deleterious 0 1 1
PZP 12 9345317 T C NM_002864 0.0777 neutral 1 0 0.001
UBE2N 12 93804590 C T NM_003348 0.5243 deleterious 0.03 0.017 0.045
CCDC38 12 96272113 A G NM_182496 0.1903 neutral 0.53 0.986 0.655
HAL 12 96374614 C A NM_001258333 0.2694 neutral 0 0 0
IKBIP 12 99020493 T C NM_153687 0.0226 neutral 0.3 0 0.001
ANKS1B 12 99837570 C T NM_152788 0.0357 neutral 0 0.916 0.409
CLYBL 13 100425097 G T NM_206808 0.2045 neutral 0.04 0.79 0.275
NALCN 13 101795438 T G NM_052867 0.5666 deleterious 0.84 0.993 0.968
NALCN 13 101944423 A G NM_052867 0.7969 deleterious 1 0.048 0.026
TPP2 13 103288643 G T NM_003291 0.9587 deleterious 0 0.001 0.003
KDELC1 13 103443708 T C NM_024089 0.0902 neutral 0.62 0 0.002
SLC10A2 13 103701690 G A NM_000452 0.9999 deleterious 0.36 0.995 0.977
MYO16 13 109817311 G A NM_015011 0.9962 deleterious 0 0.97 0.191
ARHGEF7 13 111927885 T C NM_001113513 0.8751 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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