AutismKB 2.0

NGS Mosaic Mutation Related Gene List


Gene ID Gene Symbol Band Gene Name #Mosaic Studies Score
AutG23054 NCOA6 20q11.22 nuclear receptor coactivator 6 3 3
AutG118429 ANTXR2 4q21.21 anthrax toxin receptor 2 3 3
AutG2131 EXT1 8q24.11 exostosin 1 2 2
AutG55757 UGGT2 13q32.1 UDP-glucose glycoprotein glucosyltransferase 2 2 2
AutG26013 L3MBTL1 20q13.12 l(3)mbt-like 1 (Drosophila) 2 2
AutG79784 MYH14 19q13.33 myosin, heavy chain 14, non-muscle 2 2
AutG51343 FZR1 19p13.3 fizzy/cell division cycle 20 related 1 (Drosophila) 2 2
AutG343171 OR2W3 1q44 olfactory receptor, family 2, subfamily W, member 3 2 2
AutG20 ABCA2 9q34.3 ATP-binding cassette, sub-family A (ABC1), member 2 2 2
AutG152518 NFXL1 4p12 nuclear transcription factor, X-box binding-like 1 2 2
AutG57719 ANO8 19p13.11 anoctamin 8 2 2
AutG2262 GPC5 13q31.3 glypican 5 2 2
AutG55720 TSR1 17p13.3 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 2 2
AutG10457 GPNMB 7p15.3 glycoprotein (transmembrane) nmb 2 2
Page Counts: 1/1  
 1 

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