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
GALNT18 11 11394085 C T NM_198516 0.7059 deleterious 0 0.999 0.972
NXPE4 11 114441796 T G NM_017678 0.0463 neutral 0 0 0
APOA5 11 116661599 C G NM_001166598 0.0365 neutral 0 0 0
APOC3 11 116701581 G A NM_000040 0.027 neutral 0.25 0.893 0.283
PAFAH1B2 11 117034592 C G NM_001184746 0.9644 deleterious 0 0.983 0.877
RNF214 11 117109607 G A NM_001077239 0.0007 neutral 0 0 0
RNF214 11 117152397 C T NM_001278249 0.3407 neutral 0 0.996 0.986
KMT2A 11 118344818 T A NM_001197104 0.3251 neutral 0 0.008 0.006
PHLDB1 11 118518737 G A NM_001144759 0.0405 neutral 1 0.261 0.068
BCL9L 11 118779312 G A NM_182557 0.135 neutral 0 0.003 0.001
CCDC84 11 118868936 G A NM_198489 0.8374 deleterious 0 0.999 0.997
HMBS 11 118959833 C T NM_001024382 0.1325 neutral 0 0 0
ABCG4 11 119031617 C T NM_001142505 0.1462 neutral 0 0 0
CBL 11 119148951 G A NM_005188 0.6375 deleterious 0.28 0.196 0.25
MFRP 11 119216209 C T NM_031433 0.0117 neutral 0 0 0
USP47 11 11969599 G A NM_001282659 0.5275 deleterious 0 0 0
OAF 11 120096386 G C NM_178507 0.9818 deleterious 0 0.999 0.974
ARHGEF12 11 120291542 G A NM_001198665 0.9665 deleterious 0 1 0.993
GRIK4 11 120690516 G T NM_001282470 0.9515 deleterious 0.04 0 0
TECTA 11 120998556 G A NM_005422 0.412 neutral 0.4 0.001 0.007

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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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