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
DPP3 11 66261048 G A NM_001256670 0.792 deleterious 0 0 0
BBS1 11 66293652 T G NM_024649 0.9743 deleterious 0.04 0.731 0.347
CCDC87 11 66358680 T G NM_018219 0.1324 neutral 0.06 0.875 0.275
RBM14 11 66391961 C G NM_006328 0.2001 neutral 0.1 0.989 0.734
RBM14 11 66392971 G A NM_006328 0.9586 deleterious 0.01 1 0.987
DCHS1 11 6644563 G A NM_003737 0.0118 neutral 0.18 0.001 0.001
SPTBN2 11 66453370 C T NM_006946 0.5145 deleterious 0 1 0.994
RCE1 11 66611241 C T NM_005133 0.3618 neutral 0.18 0.921 0.103
DCHS1 11 6661600 G T NM_003737 0.074 neutral 0.4 0.998 0.996
PC 11 66617104 G C NM_000920 0.8845 deleterious 0 0 0
RHOD 11 66837996 G A NM_014578 0.2324 neutral 0.07 0.076 0.023
ADRBK1 11 67051346 C T NM_001619 0.7064 deleterious 0.2 0.722 0.381
ANKRD13D 11 67056954 T C NM_207354 0.0351 neutral 0.04 0.804 0.165
SSH3 11 67074393 G A NM_017857 0.1791 neutral 0 0.001 0.007
RPS6KB2 11 67198951 G A NM_003952 0.4501 neutral 0.95 0.005 0.02
KMT5B 11 67926275 G A NM_001300908 0.5307 neutral 0 0 0
KMT5B 11 67939039 C G NM_001300909 0.048 neutral 0 0 0
LRP5 11 68174018 G A NM_001291902 0.8809 deleterious 0 0 0
LRP5 11 68181294 C T NM_001291902 0.0983 neutral 0 0 0
LRP5 11 68201226 G A NM_002335 0.5317 deleterious 0.05 0.709 0.311

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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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