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
PCDH15 10 55600125 A G NM_001142765 0.9832 deleterious 0 0.998 0.971
PCDH15 10 55626564 T C NM_001142765 0.9827 deleterious 0 0.999 0.996
PCDH15 10 55663053 C T NM_001142765 0.9723 deleterious 0 1 0.999
PCDH15 10 55721637 G A NM_001142765 0.9832 deleterious 0 1 0.978
PCDH15 10 55944928 A G NM_001142767 0.8838 deleterious 0 0.997 0.973
PCDH15 10 55944949 T C NM_001142767 0.9827 deleterious 0 1 0.988
PCDH15 10 55996624 G A NM_001142767 0.9723 deleterious 0 1 0.999
PCDH15 10 56077066 T C NM_001142767 0.0265 neutral 0 0.989 0.881
PCDH15 10 56089405 C T NM_001142768 0.0154 neutral 0 0 0
PCDH15 10 56138652 C T NM_001142768 0.0943 neutral 0 0 0
PCDH15 10 56138680 C T NM_001142768 0.0943 neutral 0 0 0
FAM208B 10 5788619 A G NM_017782 0.0167 neutral 0.03 0 0
FBXO18 10 5963470 G A NM_001258452 0.6758 deleterious 0 1 0.982
IL15RA 10 6002348 C T NM_001243539 0.001 neutral 0 0 0
BICC1 10 60549454 A G NM_001080512 0.0415 neutral 0.3 0.001 0.001
SLC16A9 10 61432662 C A NM_194298 0.998 deleterious 0 1 0.999
CCDC6 10 61552824 G C NM_005436 0.682 deleterious 0.02 0.993 0.971
ANK3 10 61833372 G A NM_020987 0.9349 deleterious 0 1 0.996
ANK3 10 61833827 A G NM_020987 0.9494 deleterious 0.22 0.956 0.549
ANK3 10 61846456 G A NM_001204403 0.1382 neutral 0 1 0.978

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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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