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
OTOF 2 26703734 C T NM_001287489 0.8446 deleterious 0 0 0
OTOF 2 26750775 G A NM_001287489 0.9539 deleterious 0 0 0
C2orf70 2 26798966 C T NM_001105519 0.7657 deleterious 0 0.997 0.635
KCNK3 2 26950618 G C NM_002246 0.5125 deleterious 0.01 0.973 0.906
DPYSL5 2 27164818 G A NM_001253723 0.1869 neutral 0 0 0
TMEM214 2 27258861 A G NM_001083590 0.0334 neutral 0 0.995 0.946
EMILIN1 2 27308159 G A NM_007046 0.0335 neutral 0.52 0.005 0.005
CGREF1 2 27324669 C T NM_001166239 0.0868 neutral 0 0 0
PREB 2 27354322 G A NM_013388 0.0078 neutral 0.11 0.085 0.016
PPM1G 2 27604615 T C NM_177983 0.9723 deleterious 0 0.002 0.001
GALNT14 2 31168706 C T NM_001253827 0.0342 neutral 0 1 0.999
SPAST 2 32314636 C G NM_014946 0.9977 deleterious 0 0.999 0.984
NLRC4 2 32475483 T C NM_001199138 0.7999 deleterious 0 0.989 0.601
BIRC6 2 32640862 C G NM_016252 0.4611 neutral 0.21 0.993 0.982
BIRC6 2 32730150 G C NM_016252 0.4611 neutral 0 0.999 0.995
TTC27 2 32983503 A G NM_001193509 0.3466 neutral 0 0 0
LTBP1 2 33572486 A C NM_206943 0.0549 neutral 0 0 0
STRN 2 37121152 C T NM_003162 0.6773 deleterious 0.06 0.701 0.285
NDUFAF7 2 37473275 A C NM_001083946 0.0324 neutral 0 0.278 0.308
GALM 2 38956836 C G NM_138801 0.6154 deleterious 0 1 0.981

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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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