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
HDLBP 2 242196047 G A NM_005336 0.8405 deleterious 0.01 0 0
D2HGDH 2 242684178 A G NM_001287249 0.5374 deleterious 0 0 0
PDCD1 2 242795110 G T NM_005018 0.0014 neutral 0.18 0.036 0.018
RTP5 2 242814639 T C NM_173821 0.0017 neutral 0.24 0.797 0.233
RTP5 2 242815059 C T NM_173821 0.0049 neutral 0.14 0.991 0.544
ITSN2 2 24435599 G A NM_019595 0.275 neutral 0 1 0.999
ITSN2 2 24469704 C T NM_019595 0.6094 deleterious 0 1 0.986
ITSN2 2 24518595 C T NM_006277 0.0927 neutral 0.21 0.085 0.026
ADCY3 2 25042880 A G NM_004036 0.6341 deleterious 0 0.999 0.988
ADCY3 2 25057739 C T NM_004036 0.3659 neutral 0.11 0.05 0.005
ADCY3 2 25061366 G A NM_004036 0.3659 neutral 0.3 0.001 0.006
DNAJC27 2 25180710 T G NM_001198559 0.743 deleterious 0 0 0.003
EFR3B 2 25354705 G T NM_014971 0.0162 neutral 0 0 0.003
DNMT3A 2 25457176 G A NM_153759 0.8708 deleterious 0 0.811 0.032
DNMT3A 2 25463289 T C NM_153759 0.8708 deleterious 0 1 1
DNMT3A 2 25464520 C A NM_153759 0.1703 neutral 0 0.96 0.969
DNMT3A 2 25466800 G A NM_153759 0.3113 neutral 0 0.995 0.65
KIF3C 2 26203250 T C NM_002254 0.7071 deleterious 0.07 0.006 0.005
HADHA 2 26432717 C A NM_000182 0.8071 deleterious 0 1 0.994
ADGRF3 2 26536727 C T NM_153835 0.0088 neutral 0 0.035 0.021

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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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