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
CEP295 11 93412615 G A NM_033395 0.1245 neutral 0.06 0.994 0.808
HEPHL1 11 93796879 C G NM_001098672 0.9439 deleterious 0.02 1 1
PIWIL4 11 94340642 A T NM_152431 0.9424 deleterious 0 1 0.998
MTMR2 11 95580994 T C NM_001243571 0.2632 neutral 0 0 0
CNTN5 11 99827672 C G NM_175566 0.0318 neutral 0 0 0
SCYL2 12 100709337 G A NM_017988 0.9968 deleterious 0 1 0.999
SLC5A8 12 101584304 C T NM_145913 0.4639 neutral 0.25 0.004 0.047
GNPTAB 12 102164185 T C NM_024312 0.5649 deleterious 0.11 0.113 0.113
CCDC53 12 102437956 A G NM_001301107 0.4467 neutral 0.65 0 0
STAB2 12 104138980 G A NM_017564 0.7702 deleterious 0 0.993 0.71
NUAK1 12 106460608 G A NM_014840 0.9044 deleterious 0 1 0.974
RFX4 12 107126711 G A NM_032491 0.4384 neutral 0.64 0 0.001
BTBD11 12 107937726 C T NM_001018072 0.7638 deleterious 0 1 0.997
PWP1 12 108090356 C T NM_007062 0.6024 deleterious 0 0.26 0.212
PRDM4 12 108145614 A G NM_012406 0.9769 deleterious 0.04 0.99 0.797
FICD 12 108912728 G A NM_007076 0.03 neutral 1 0.163 0.042
SELPLG 12 109017494 G A NM_003006 0.0036 neutral 0 0.001 0.008
SSH1 12 109182009 C T NM_018984 0.0788 neutral 0.23 0.958 0.289
DAO 12 109293187 G A NM_001917 0.998 deleterious 0 1 0.987
USP30 12 109510128 C T NM_001301175 0.0541 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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