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
CHRNG 2 233409575 T C NM_005199 0.9649 deleterious 0 0.966 0.93
GIGYF2 2 233704659 G A NM_001103148 0.9926 deleterious 0 1 0.988
GIGYF2 2 233712061 C G NM_001103148 0.768 deleterious 0 1 0.998
SH3YL1 2 234212 C T NM_001159597 0.995 deleterious 0 1 0.984
MROH2A 2 234713681 G T NM_001287395 0.1704 neutral 0 0 0
TRPM8 2 234851324 G A NM_024080 0.1628 neutral 1 1 0.996
AGAP1 2 236659033 G A NM_001037131 0.9649 deleterious 0 0.99 0.96
COL6A3 2 238253016 G A NM_057166 0.4532 neutral 0 1 0.967
COL6A3 2 238271991 G A NM_057166 0.4211 neutral 0 1 0.919
COL6A3 2 238303503 T C NM_004369 0.6046 deleterious 0.64 0.001 0.003
PRLH 2 238475709 G A NM_015893 0.6275 deleterious 0 1 0.998
LRRFIP1 2 238671960 C T NM_001137553 0.0013 neutral 0 0.023 0.016
ESPNL 2 239040083 G A NM_001308370 0.0091 neutral 0 0 0
PER2 2 239164427 C T NM_022817 0.8507 deleterious 0.04 0.999 0.791
ASB1 2 239344638 C A NM_001040445 0.4041 deleterious 0.28 0.962 0.611
CAPN10 2 241534627 G A NM_023083 0.0347 neutral 0 0.123 0.042
GPR35 2 241569791 G T NM_005301 0.9323 deleterious 0 1 0.995
KIF1A 2 241658532 C T NM_004321 0.9612 deleterious 0 0 0
KIF1A 2 241724471 C T NM_001244008 0.8586 deleterious 0 1 0.989
UBXN2A 2 24205852 C T NM_181713 0.4722 deleterious 0 0.845 0.695

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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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