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
GABRB1 4 47405626 T C NM_000812 0.8666 deleterious 0 0.999 0.994
NFXL1 4 47900786 C A NM_001278623 0.9502 deleterious 0 0 0
NIPAL1 4 48038163 A G NM_207330 0.192 neutral 0 0.044 0.036
CYTL1 4 5016883 G A NM_018659 0.1276 neutral 0 0.955 0.276
LNX1 4 54362459 A T NM_032622 0.0152 neutral 0 0.581 0.336
KDR 4 55953925 C T NM_002253 0.9949 deleterious 0.08 0.983 0.697
SRD5A3 4 56236104 T A NM_024592 0.9948 deleterious 0.01 0.999 0.982
EXOC1 4 56756552 G T NM_178237 0.9577 deleterious 0 0.991 0.858
CEP135 4 56846457 A G NM_025009 0.3248 neutral 0.31 0.001 0.005
REST 4 57798002 C G NM_001193508 0.2049 neutral 0 0 0
JAKMIP1 4 6114519 T C NM_001099433 0.5365 deleterious 0 0.981 0.954
TECRL 4 65180381 C T NM_001010874 0.4962 deleterious 0.53 0.99 0.707
MRFAP1 4 6642942 T A NM_001272053 0.8383 deleterious 0.1 0.999 0.899
MFSD7 4 675887 C G NM_001294342 0.005 neutral 0 0 0
GNRHR 4 68619768 G A NM_000406 0.9626 deleterious 0.01 1 0.999
UGT2B10 4 69681849 A G NM_001075 0.479 deleterious 0.16 0.007 0.012
RUFY3 4 71588304 C T NM_001037442 0.8899 deleterious 0 1 0.997
RUFY3 4 71629352 A G NM_001037442 0.9355 deleterious 0 0.264 0.282
RUFY3 4 71634283 A G NM_001291993 0.2565 neutral 0 0 0
NPFFR2 4 72994491 G A NM_004885 0.1006 neutral 0.61 0.001 0.002

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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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