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
RFX7 15 56388396 C G NM_022841 0.2305 neutral 0 0 0
MNS1 15 56723692 C T NM_018365 0.3737 neutral 0.07 0.987 0.751
ZNF280D 15 56923895 C A NM_001002843 0.0619 neutral 0 0 0
CGNL1 15 57810657 G C NM_001252335 0.8076 deleterious 0.08 0 0
CGNL1 15 57815788 G T NM_001252335 0.3128 neutral 0.5 0 0
GCOM1 15 57913816 C T NM_001018090 0.6953 deleterious 0 0.887 0.51
ADAM10 15 58971416 G A NM_001110 0.8645 deleterious 0.05 0.844 0.289
FAM63B 15 59064294 A G NM_001040450 0.987 deleterious 0 0.376 0.114
MYO1E 15 59487682 G A NM_004998 0.5 deleterious 0.05 0.016 0.14
MYO1E 15 59506918 G C NM_004998 0.4755 neutral 0.04 0.045 0.111
MYO1E 15 59516914 C T NM_004998 0.5 deleterious 0 1 1
RORA 15 60792113 C T NM_134262 0.2533 neutral 0 0.058 0.003
USP3 15 63824890 A G NM_001256702 0.3406 neutral 0 0.034 0.036
TRIP4 15 64701913 A G NM_016213 0.9127 deleterious 0.02 0.892 0.511
KBTBD13 15 65369229 G A NM_001101362 0.5444 deleterious 0.01 0.997 0.969
CLPX 15 65471361 T G NM_006660 0.8012 deleterious 0.31 0.002 0.001
IGDCC4 15 65677446 C A NM_020962 0.5298 deleterious 0.01 1 0.996
SLC24A1 15 65918236 C G NM_001301031 0.4126 neutral 0 0 0
SLC24A1 15 65945118 G A NM_004727 0.9995 deleterious 0 1 1
DENND4A 15 65983633 A G NM_005848 0.0406 neutral 0.3 0.011 0.01

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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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