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
RSF1 11 77458112 A G NM_016578 0.8782 deleterious 0.01 0.999 0.991
USP35 11 77921348 G A NM_020798 0.3496 neutral 0 0 0
GAB2 11 77938015 C G NM_012296 0.1352 neutral 0.41 0 0
GAB2 11 77961261 C T NM_012296 0.1329 neutral 0.5 0 0
RIC3 11 8148296 T C NM_024557 0.05 neutral 0 0.996 0.99
RIC3 11 8190433 T C NM_001135109 0.0381 neutral 0 0.002 0.01
PRCP 11 82536081 C A NM_005040 0.7626 deleterious 0 1 0.999
CCDC90B 11 82989819 T C NM_001286116 0.0566 neutral 0 0 0
DLG2 11 83497765 G C NM_001142700 0.0032 neutral 0 0.214 0.305
CD151 11 837476 G C NM_001039490 0.2396 neutral 0 0 0
CCDC81 11 86126337 T G NM_021827 0.234 neutral 0 1 0.992
TYR 11 88911734 C A NM_000372 0.8764 deleterious 0 0.973 0.911
TYR 11 88961072 C A NM_000372 0.8947 deleterious 0 0.001 0.004
SCUBE2 11 9111335 C T NM_001170690 0.0656 neutral 0 0.919 0.555
DENND5A 11 9163520 C T NM_015213 0.9726 deleterious 0.01 1 1
DENND5A 11 9172264 T C NM_001243254 0.8683 deleterious 0.13 0.061 0.102
FAT3 11 92087350 A C NM_001008781 0.0931 neutral 0 0.554 0.203
FAT3 11 92258103 A G NM_001008781 0.8015 deleterious 0 0.999 0.997
FAT3 11 92533228 G A NM_001008781 0.9829 deleterious 0 1 0.998
FAT3 11 92600180 G A NM_001008781 0.5186 deleterious 0 0.841 0.318

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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