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
CYP4F12 19 15791068 A C NM_023944 0.156 neutral 0 1 0.999
CYP4F11 19 16045146 C G NM_001128932 0.0367 neutral 0.51 0 0
CHERP 19 16630447 T C NM_006387 0.9175 deleterious 0 0.072 0.048
CHERP 19 16643425 C G NM_006387 0.9896 deleterious 0 1 0.998
SIN3B 19 16973723 C T NM_015260 0.3023 neutral 0.05 0 0.001
CPAMD8 19 17104231 G T NM_015692 0.0589 neutral 0 0 0
HAUS8 19 17160882 C T NM_001011699 0.0056 neutral 0 0 0
MYO9B 19 17306176 C T NM_001130065 0.8391 deleterious 0 1 0.927
ANO8 19 17441782 G A NM_020959 0.8608 deleterious 0.59 0.97 0.884
UNC13A 19 17743591 G T NM_001080421 0.2314 neutral 0 0 0
UNC13A 19 17768899 C G NM_001080421 0.4526 neutral 0 0 0
B3GNT3 19 17918722 G T NM_014256 0.1948 neutral 0.7 0 0
JAK3 19 17945696 C T NM_000215 0.7293 deleterious 0.03 0.001 0.003
SLC5A5 19 17983447 C T NM_000453 0.9995 deleterious 0.01 0.999 0.993
MAST3 19 18232563 C T NM_015016 0.9554 deleterious 0 1 0.999
PIK3R2 19 18273859 G A NM_005027 0.9234 deleterious 0.02 0.995 0.95
GDF15 19 18499119 C G NM_004864 0.0244 neutral 0.45 0.384 0.048
KLF16 19 1854681 C G NM_031918 0.9602 deleterious 0 0.999 0.996
ELL 19 18557559 G C NM_006532 0.1647 neutral 0.77 0.981 0.76
CRTC1 19 18886533 C T NM_015321 0.3641 neutral 0 0.016 0.017

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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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