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
TRMO 9 100672811 G A NM_016481 0.7553 deleterious 0 0.995 0.853
GABBR2 9 101133817 C T NM_005458 0.8621 deleterious 0 0.999 0.996
ANKS6 9 101540675 C T NM_173551 0.9377 deleterious 0.11 1 0.992
INVS 9 103002453 T C NM_014425 0.5876 deleterious 0 0.995 0.972
TEX10 9 103066077 C T NM_017746 0.8196 deleterious 0.04 0.999 0.886
PPP3R2 9 104357062 C T NM_147180 0.1361 neutral 0.01 0 0
DMRT2 9 1057229 A G NM_181872 0.9652 deleterious 0 0.994 0.987
TMEM38B 9 108536306 C T NM_018112 0.0437 neutral 0 0.002 0.001
ZNF462 9 109691619 C T NM_021224 0.4106 neutral 0.54 0.147 0.042
ZNF462 9 109692806 C A NM_021224 0.2326 neutral 0 0.43 0.152
IKBKAP 9 111681091 T C NM_003640 0.3369 neutral 0 1 1
INIP 9 115456456 T G NM_021218 0.7948 deleterious 0.09 0.403 0.088
ALAD 9 116151738 C T NM_000031 0.2356 neutral 0 0.96 0.487
AKNA 9 117103870 G A NM_030767 0.1522 neutral 0 0.013 0.01
FOXD4 9 117998 G T NM_207305 0.0156 neutral 1 0 0
TLR4 9 120475490 A G NM_138557 0.0132 neutral 0 0 0
GSN 9 124073052 C T NM_001127662 0.2582 neutral 0 0 0
DAB2IP 9 124530734 T C NM_138709 0.723 deleterious 0 0 0
OR1J2 9 125273716 G A NM_054107 0.0065 neutral 0.53 0 0.001
PDCL 9 125582651 C T NM_005388 0.0396 neutral 0.65 0.003 0.001

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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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