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
PKHD1 6 51893107 T C NM_138694 0.0789 neutral 0 0.997 0.819
EXOC2 6 553870 T C NM_018303 0.4935 deleterious 0.49 0.001 0.002
ZNF451 6 57017096 C T NM_015555 0.6155 deleterious 0 1 0.999
F13A1 6 6251120 T A NM_000129 0.1434 neutral 0.03 0.998 0.866
PHF3 6 64423108 C T NM_001290259 0.0188 neutral 0 0 0
PHF3 6 64423242 C T NM_001290259 0.0832 neutral 0 0 0
ADGRB3 6 69685183 C T NM_001704 0.8641 deleterious 0 1 0.999
SDHAF4 6 71298323 C T NM_145267 0.4433 neutral 0.02 1 0.999
KCNQ5 6 73900363 G A NM_001160134 0.899 deleterious 0 0.532 0.19
MTO1 6 74207618 C T NM_012123 0.4527 neutral 0 1 0.998
COL12A1 6 75843100 C G NM_004370 0.8909 deleterious 0.2 0.986 0.803
SENP6 6 76412395 G A NM_001100409 0.6132 deleterious 0.14 1 0.999
IRAK1BP1 6 79607982 A G NM_001010844 0.318 neutral 0 0.014 0.035
TPBG 6 83075603 C A NM_001166392 0.6249 deleterious 0 0 0
ME1 6 83921732 T A NM_002395 0.153 neutral 0.29 0 0.001
TBX18 6 85470056 C G NM_001080508 0.5665 deleterious 0.46 0.387 0.289
SNX14 6 86303351 G C NM_001297614 0.5207 deleterious 0 0 0
SLC35A1 6 88210320 G T NM_001168398 0.992 deleterious 0 0.883 0.779
AKIRIN2 6 88385638 C T NM_018064 0.1779 neutral 0.69 0.037 0.01
MDN1 6 90402347 G C NM_014611 0.22 neutral 0.28 0.908 0.368

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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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