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
DUS2 16 68100248 G A NM_001271763 0.0081 neutral 0 0.002 0.003
PRMT7 16 68389650 A G NM_001184824 0.4875 neutral 0 0.218 0.047
CDH3 16 68721498 C G NM_001317196 0.2473 neutral 0 0 0
CDH1 16 68855966 G A NM_001317184 0.2473 neutral 0 0 0
TANGO6 16 68936305 G T NM_024562 0.3392 neutral 0.29 1 0.999
TERF2 16 69401013 G C NM_005652 0.2364 neutral 0 0 0
CYB5B 16 69496335 G A NM_030579 0.1171 neutral 1 0 0
NFAT5 16 69727389 C T NM_138714 0.0552 neutral 0.52 0 0
WWP2 16 69922119 C T NM_001270453 0.023 neutral 0 0 0
PDPR 16 70176549 G A NM_017990 0.9047 deleterious 0 0.396 0.212
SF3B3 16 70578434 G A NM_012426 0.998 deleterious 0.06 0.958 0.876
HYDIN 16 70926398 T A NM_001270974 0.7811 deleterious 0 0 0
CHST4 16 71571290 A C NM_001166395 0.422 neutral 0 0 0
MARVELD3 16 71668525 C G NM_052858 0.099 neutral 0.34 0.959 0.535
AP1G1 16 71780536 C T NM_001128 0.9968 deleterious 0 1 1
STUB1 16 731512 A C NM_005861 0.7975 deleterious 0.29 0.797 0.112
CLEC18B 16 74444453 C T NM_001011880 0.3342 neutral 0.01 0.989 0.885
CLEC18B 16 74444506 T C NM_001011880 0.0794 neutral 0.42 0.046 0.04
FBXL16 16 745595 T C NM_153350 0.1255 neutral 0 0 0
MLKL 16 74709283 C G NM_152649 0.0597 neutral 0 1 1

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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