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
MFSD12 19 3547469 G A NM_001287529 0.7307 deleterious 0 0 0
HMG20B 19 3573739 G A NM_006339 0.1028 neutral 0 0.005 0.004
MAG 19 35791072 G A NM_001199216 0.0279 neutral 0 0 0
CD22 19 35837104 C T NM_001185101 0.0149 neutral 0 0.965 0.584
SBSN 19 36018849 G T NM_001166034 0.6889 deleterious 0.01 0.999 0.999
KMT2B 19 36216691 C T NM_014727 0.3251 neutral 0 0 0
IGFLR1 19 36230667 G A NM_024660 0.3387 neutral 0 0.386 0.124
ZNF382 19 37101604 G T NM_001256838 0.0188 neutral 0 0.958 0.681
ZNF345 19 37368889 T C NM_001242472 0.0002 neutral 0 0 0
ZNF568 19 37441275 T C NM_001204836 0.0001 neutral 0 0 0
ZNF420 19 37618055 G T NM_144689 0.056 neutral 0 0.001 0.002
MRPL54 19 3767317 C T NM_172251 0.4495 neutral 0.12 0.012 0.005
ZNF571 19 38055957 C T NM_001290314 0.0226 neutral 0 0 0
ZFR2 19 3819169 G C NM_015174 0.9845 deleterious 0 1 1
ZFR2 19 3834874 G A NM_015174 0.0304 neutral 0.03 0.596 0.069
WDR87 19 38377481 T C NM_031951 0.1467 neutral 0.05 0.949 0.246
SIPA1L3 19 38610142 G A NM_015073 0.8935 deleterious 0.01 0.617 0.253
CATSPERG 19 38855701 G A NM_021185 0.6777 deleterious 0 1 0.999
PSMD8 19 38867064 C G NM_002812 0.4678 deleterious 0 0.097 0.038
GGN 19 38876253 T G NM_152657 0.027 neutral 0.02 0.004 0.004

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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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