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
TUBGCP5 15 22873217 T C NM_052903 0.6748 deleterious 0 0.828 0.365
CYFIP1 15 22969287 G C NM_001033028 0.9995 deleterious 0 1 0.998
NIPA1 15 23049147 C G NM_001142275 0.0047 neutral 0 0 0
NIPA1 15 23049158 G A NM_001142275 0.0668 neutral 0 0 0
ATP10A 15 25924832 C T NM_024490 0.2924 neutral 0.71 0.001 0.001
ATP10A 15 25958938 C T NM_024490 0.9684 deleterious 0.12 0.995 0.899
HERC2 15 28506003 G A NM_004667 0.4283 neutral 0.19 0.955 0.353
APBA2 15 29346334 G A NM_001130414 0.879 deleterious 0 0.999 0.993
TRPM1 15 31330304 G C NM_002420 0.476 neutral 0 0 0.001
ARHGAP11A 15 32920998 G T NM_001286479 0.0437 neutral 0 0 0
ARHGAP11A 15 32927988 C G NM_001286479 0.0906 neutral 0 0 0
AVEN 15 34159944 A C NM_020371 0.1815 neutral 0.2 0.164 0.163
EMC4 15 34520732 C G NM_016454 0.9162 deleterious 0.01 1 0.99
NUTM1 15 34647243 C G NM_175741 0.4043 neutral 0 0.78 0.334
LPCAT4 15 34651913 G A NM_153613 0.5125 deleterious 0.11 0.926 0.226
ACTC1 15 35084465 G A NM_005159 0.9871 deleterious 0 0.001 0.002
AQR 15 35230988 G A NM_014691 0.5838 deleterious 0.65 0.136 0.05
DPH6 15 35742921 T C NM_080650 0.3711 neutral 0.05 0.014 0.026
FAM98B 15 38766428 T C NM_173611 0.9511 deleterious 0 1 1
BUB1B-PAK6 15 40566347 A G NM_001128628 0.8414 deleterious 0 0 0

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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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