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
HMGN2 1 26800626 G T NM_005517 0.3527 neutral 0.01 0.971 0.693
RPS6KA1 1 26885393 C T NM_002953 0.5125 deleterious 0 0.875 0.252
ARID1A 1 27089742 G A NM_006015 0.0832 neutral 0.01 0.984 0.248
SLC9A1 1 27440652 C T NM_003047 0.0075 neutral 0.46 0.016 0.007
MAP3K6 1 27685327 A G NM_001297609 0.0195 neutral 0 0 0
AHDC1 1 27877086 G A NM_001029882 0.94 deleterious 0 0.128 0.041
PTPRU 1 29587385 C A NM_001195001 0.9639 deleterious 0 0.876 0.632
MATN1 1 31194365 G A NM_002379 0.7368 deleterious 0.01 0.997 0.932
SDC3 1 31346198 C T NM_014654 0.7468 deleterious 0 1 0.999
SDC3 1 31349764 T C NM_014654 0.0208 neutral 0 0.001 0.007
PUM1 1 31437728 G A NM_001020658 0.9109 deleterious 0 1 0.988
SERINC2 1 31905923 C G NM_001199039 0.0745 neutral 0 0 0
ADGRB2 1 32206984 A T NM_001294335 0.4455 neutral 0 0 0
TMEM39B 1 32557520 A G NM_018056 0.9962 deleterious 0.03 0.997 0.992
IQCC 1 32672714 G A NM_018134 0.8278 deleterious 0 0.877 0.343
HDAC1 1 32790137 C T NM_004964 0.6724 deleterious 0.03 0.946 0.863
KIAA1522 1 33236926 C G NM_001198972 0.1193 neutral 0.28 0.042 0.031
HPCA 1 33354602 C T NM_002143 0.5067 deleterious 0.05 0.024 0.008
ARHGEF16 1 3385486 C T NM_014448 0.9962 deleterious 0.01 1 0.998
ZMYM6 1 35453426 C T NM_007167 0.2526 neutral 0.25 0.82 0.067

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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