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
ADAM22 7 87760687 G A NM_004194 0.5125 deleterious 0 0 0
NXPH1 7 8790890 A G NM_152745 0.9909 deleterious 0.01 1 0.988
ZNF804B 7 88963885 A T NM_181646 0.3791 neutral 0.11 0.933 0.518
CDK14 7 90355990 G A NM_001287136 0.9166 deleterious 0 0 0
AKAP9 7 91630490 A G NM_005751 0.1093 neutral 0.28 0.347 0.085
AKAP9 7 91691610 T A NM_005751 0.6974 deleterious 0 0.999 0.98
RBM48 7 92161752 T G NM_032120 0.9126 deleterious 0.01 0.995 0.94
FAM133B 7 92207484 C T NM_001040057 0.1775 neutral 0 0 0
SAMD9 7 92734051 C T NM_001193307 0.2592 neutral 0 0 0
COL1A2 7 94039077 C T NM_000089 0.9375 deleterious 0 1 0.997
COL1A2 7 94042413 G C NM_000089 0.9998 deleterious 0 1 1
PEG10 7 94293229 G A NM_001040152 0.3664 neutral 0.04 0 0
ADAP1 7 944768 C T NM_006869 0.605 deleterious 0.18 0.998 0.826
DYNC1I1 7 95661998 A G NM_001135557 0.1446 neutral 0 0.002 0.006
SLC25A13 7 95750561 T G NM_014251 0.1901 neutral 0 0.017 0.004
SDHAF3 7 96747192 T C NM_020186 0.1992 neutral 0 0.777 0.396
LMTK2 7 97816289 A G NM_014916 0.9165 deleterious 0.08 0.728 0.678
LMTK2 7 97821294 C T NM_014916 0.9885 deleterious 0 1 0.999
LMTK2 7 97823256 C A NM_014916 0.7966 deleterious 0.18 0.278 0.034
BAIAP2L1 7 97923404 G A NM_018842 0.0393 neutral 0.3 0.003 0.003

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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