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
SNTG2 2 1271174 T C NM_018968 0.5947 deleterious 0 0.062 0.055
MYO7B 2 128384626 C T NM_001080527 0.916 deleterious 0 1 0.986
MYO7B 2 128388847 G C NM_001080527 0.999 deleterious 0 1 0.999
WDR33 2 128522378 G A NM_001006622 0.9398 deleterious 0 0.994 0.983
SMPD4 2 130912761 C T NM_001171083 0.423 neutral 0 0.986 0.763
CCDC74A 2 132290912 G A NM_001258306 0.1379 neutral 0 0.999 0.987
CCNT2 2 135676549 A G NM_001241 0.4641 neutral 0.18 0.295 0.068
MAP3K19 2 135756467 G A NM_001018046 0.0614 neutral 0.02 0.912 0.17
ZRANB3 2 135982012 A G NM_001286569 0.0374 neutral 0 0 0
ZRANB3 2 136072939 G A NM_001286568 0.0021 neutral 0 0 0
MCM6 2 136626351 G A NM_005915 0.9985 deleterious 0.13 1 1
ZEB2 2 145157478 A T NM_001171653 0.016 neutral 0 0.369 0.26
MBD5 2 149226221 A G NM_018328 0.2544 neutral 0 0.018 0.013
MBD5 2 149226357 G A NM_018328 0.9162 deleterious 0 0.992 0.814
MBD5 2 149227283 C G NM_018328 0.9221 deleterious 0 0.974 0.969
MBD5 2 149227374 A T NM_018328 0.9185 deleterious 0 0.982 0.829
NEB 2 152403966 A G NM_004543 0.2845 neutral 0 0 0
NEB 2 152424685 T C NM_004543 0.6034 deleterious 0 0 0
NEB 2 152468776 T C NM_004543 0.4827 deleterious 0 0 0
ARL6IP6 2 153575211 C G NM_152522 0.0134 neutral 0.17 0.325 0.153

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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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