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
NBEA 13 36180647 G A NM_015678 0.2585 neutral 0 0.013 0.036
CCDC169-SOHLH2 13 36764150 A C NM_001198910 0.0146 neutral 0.64 0.231 0.039
SPG20 13 36909888 A G NM_001142294 0.7416 deleterious 0 0 0
SMAD9 13 37447001 C A NM_001127217 0.9718 deleterious 0 0.431 0.197
TRPC4 13 38266412 C T NM_001135958 0.7431 deleterious 0.08 0.972 0.918
FREM2 13 39264446 C T NM_207361 0.9223 deleterious 0.01 1 0.978
VWA8 13 42265576 C A NM_015058 0.0896 neutral 0 0.148 0.033
VWA8 13 42293799 A G NM_001009814 0.0757 neutral 0 0 0
DGKH 13 42733479 G A NM_001204504 0.0245 neutral 0 0 0
COG3 13 46050463 G T NM_031431 0.7081 deleterious 0.19 0.8 0.365
KIAA0226L 13 46933633 T G NM_001286766 0.8344 deleterious 0 0 0
MED4 13 48657525 T C NM_014166 0.8739 deleterious 0.06 0.008 0.019
RB1 13 48941688 C T NM_000321 0.3453 neutral 0.06 0.418 0.191
SETDB2 13 50056886 C G NM_001160308 0.2024 neutral 0 0.049 0.079
UTP14C 13 52603682 A G NM_021645 0.7414 deleterious 0.01 0.909 0.737
THSD1 13 52952708 T C NM_199263 0.2958 neutral 0 0.999 0.964
SUGT1 13 53261963 A C NM_006704 0.7744 deleterious 0.08 0.402 0.346
OLFM4 13 53624124 G A NM_006418 0.3377 neutral 0.01 0.542 0.309
PCDH17 13 58240602 A G NM_001040429 0.9082 deleterious 0 0.033 0.034
PCDH17 13 58240856 G A NM_001040429 0.9463 deleterious 0 1 0.998

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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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