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
UBN1 16 4925419 C T NM_001079514 0.7467 deleterious 0.31 0.569 0.054
PPL 16 4945323 C T NM_002705 0.9582 deleterious 0 0.996 0.828
ZNF423 16 49670329 G A NM_001271620 0.2223 neutral 0 0 0
ZNF423 16 49671585 T C NM_001271620 0.6674 deleterious 0 0 0
PAPD5 16 50263085 G A NM_001040285 0.1684 neutral 0 0 0
C16orf89 16 5115751 C A NM_001098514 0.5774 deleterious 0 0 0
SLC6A2 16 55703492 C T NM_001043 0.9316 deleterious 0 0 0
GNAO1 16 56388838 G A NM_020988 0.4883 deleterious 0 0.442 0.316
SLC12A3 16 56920988 G A NM_001126107 0.1077 neutral 0 0.119 0.059
CPNE2 16 57157358 C G NM_152727 0.9408 deleterious 0 0.999 0.994
MMP15 16 58071464 C G NM_002428 0.2405 neutral 0.14 0.004 0.015
NDRG4 16 58538527 G A NM_001242835 0.9998 deleterious 0 0.983 0.363
NDRG4 16 58540303 G A NM_001242835 0.2194 neutral 0 0.391 0.054
SLC38A7 16 58713960 C T NM_001308384 0.9623 deleterious 0 0 0
CAPN15 16 601654 G A NM_005632 0.0086 neutral 0 1 0.999
CDH11 16 65016165 C G NM_001308392 0.2473 neutral 0 0 0
DYNC1LI2 16 66769989 C A NM_001286157 0.9772 deleterious 0 0 0
SLC9A5 16 67304643 A G NM_004594 0.8297 deleterious 0.41 0 0
EDC4 16 67913976 G A NM_014329 0.7655 deleterious 0.52 0.608 0.108
LCAT 16 67973973 C G NM_000229 0.8504 deleterious 0.03 0.232 0.29

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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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