AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 28503910


Gene ID Gene Symbol Chr Position
2 169853212
Ref Alt Genotype Validated Method
T G PASM
9 131599143
Ref Alt Genotype Validated Method
A G PASM
8 25364646
Ref Alt Genotype Validated Method
G T PASM
19 10250926
Ref Alt Genotype Validated Method
G A PASM
12 49937116
Ref Alt Genotype Validated Method
C T PASM
17 10354727
Ref Alt Genotype Validated Method
T G PASM
14 79434627
Ref Alt Genotype Validated Method
G A PASM
14 20389721
Ref Alt Genotype Validated Method
G A PASM
6 43109472
Ref Alt Genotype Validated Method
G A PASM
2 166788316
Ref Alt Genotype Validated Method
T A PASM
11 57466083
Ref Alt Genotype Validated Method
G A PASM
1 10402235
Ref Alt Genotype Validated Method
C G PASM
2 32690189
Ref Alt Genotype Validated Method
A G PASM
2 109961258
Ref Alt Genotype Validated Method
A G PASM
2 191302072
Ref Alt Genotype Validated Method
C T PASM
3 14960293
Ref Alt Genotype Validated Method
C T PASM
3 102196241
Ref Alt Genotype Validated Method
A G PASM
3 151150462
Ref Alt Genotype Validated Method
G A PASM
3 197748355
Ref Alt Genotype Validated Method
G A PASM
5 135369385
Ref Alt Genotype Validated Method
G A PASM
6 102247525
Ref Alt Genotype Validated Method
T C PASM
7 124290632
Ref Alt Genotype Validated Method
A G PASM
8 38107393
Ref Alt Genotype Validated Method
G A PASM
8 142148158
Ref Alt Genotype Validated Method
C T PASM
10 124350983
Ref Alt Genotype Validated Method
T G PASM
11 43861493
Ref Alt Genotype Validated Method
A G PASM
15 75122518
Ref Alt Genotype Validated Method
G A PASM
16 34739717
Ref Alt Genotype Validated Method
C G PASM
17 1561694
Ref Alt Genotype Validated Method
C T PASM
19 47844626
Ref Alt Genotype Validated Method
C T PASM
19 54734002
Ref Alt Genotype Validated Method
T C PASM

Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes. At the same time, iFish alsoprovides functional annotations from other classifiers such as: SIFT, Polyphen2, and MutationTaster2.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.

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