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
TAF4 20 60589640 G C NM_003185 0.6841 deleterious 0.07 1 0.998
FERMT1 20 6064737 G C NM_017671 0.7337 deleterious 0.02 1 0.997
MTG2 20 60772988 T A NM_015666 0.2602 neutral 0.13 0.082 0.139
OGFR 20 61444324 G A NM_007346 0.1195 neutral 0.4 0.877 0.098
OGFR 20 61444939 G C NM_007346 0.0213 neutral 0.03 0.004 0.005
EEF1A2 20 62120390 C T NM_001958 0.8102 deleterious 0.04 0 0
HELZ2 20 62198612 G A NM_033405 0.1313 neutral 0.18 0.996 0.907
ZGPAT 20 62366534 C T NM_001195654 0.5363 deleterious 0 0.981 0.548
SLC2A4RG 20 62373543 G A NM_020062 0.3243 neutral 0.28 0.22 0.159
SAMD10 20 62608720 T G NM_080621 0.3787 deleterious 0.2 0.995 0.986
PRPF6 20 62626801 C T NM_012469 0.9876 deleterious 0 1 0.998
NPBWR2 20 62737215 G A NM_005286 0.9034 deleterious 0 1 0.868
LIPI 21 15524921 C T NM_001302999 0.0327 neutral 0 0 0
SAMSN1 21 15893541 C T NM_022136 0.7106 deleterious 0 1 0.973
NRIP1 21 16338241 T A NM_003489 0.6433 deleterious 0 1 0.99
TMPRSS15 21 19642312 C T NM_002772 0.0413 neutral 0 0.005 0.003
GRIK1 21 30949318 G A NM_175611 0.1137 neutral 0 0.192 0.052
GRIK1 21 30959815 A G NM_175611 0.9735 deleterious 0 1 1
GRIK1 21 30961290 G T NM_175611 0.0025 neutral 0 0.001 0.023
KRTAP13-4 21 31802727 C T NM_181600 0.6051 deleterious 0 0.999 0.983

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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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