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
MRGPRX1 11 18955754 C A NM_147199 0.0137 neutral 0.51 0.051 0.077
MRGPRX1 11 18956116 G C NM_147199 0.9342 deleterious 0 1 0.999
MRGPRX2 11 19076997 C T NM_001303615 0.1367 neutral 0.09 0 0
NAV2 11 20139742 G A NM_001111019 0.558 deleterious 0 0.999 0.994
SLC6A5 11 20657880 C T NM_004211 0.5125 deleterious 0 1 1
NELL1 11 21135209 C T NM_001288714 0.5534 deleterious 0 0 0
ANO3 11 26484618 G A NM_031418 0.1933 neutral 0.43 0.154 0.015
MUC15 11 26587227 T C NM_145650 0.0048 neutral 0 0.004 0.004
SLC5A12 11 26732893 C T NM_178498 0.9995 deleterious 0 1 0.997
NLRP6 11 284614 C A NM_001276700 0.0048 neutral 0 0.025 0.024
SLC22A18 11 2939260 C T NM_001315502 0.0094 neutral 0 0 0
KCNA4 11 30033315 C A NM_002233 0.9195 deleterious 0.02 0.015 0.015
DCDC5 11 30925196 G A NM_020869 0.4242 deleterious 0 0 0
WT1 11 32410678 C G NM_001198552 0.9963 deleterious 0 1 1
CSTF3 11 33106655 C T NM_001326 0.9576 deleterious 0 1 0.98
LMO2 11 33890952 C T NM_005574 0.4973 deleterious 0.06 0.549 0.087
ABTB2 11 34182470 C T NM_145804 0.0408 neutral 0 0 0
CD44 11 35227734 T C NM_001001389 0.0127 neutral 0.08 0.057 0.038
LDLRAD3 11 36057670 G A NM_174902 0.9702 deleterious 0.09 1 0.999
PKP3 11 396860 C T NM_007183 0.3794 deleterious 0.03 0.89 0.197

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  (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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