AutismKB 2.0

NGS de novo Mutation Related Gene List


Gene ID Gene Symbol Band Gene Name #de novo Studies Score
AutG7025 NR2F1 5q15 nuclear receptor subfamily 2, group F, member 1 2 2
AutG1778 DYNC1H1 14q32.31 dynein, cytoplasmic 1, heavy chain 1 2 2
AutG84168 ANTXR1 2p13.3 anthrax toxin receptor 1 2 2
AutG27327 TNRC6A 16p12.1 trinucleotide repeat containing 6A 2 2
AutG8974 P4HA2 5q31.1 prolyl 4-hydroxylase, alpha polypeptide II 2 2
AutG2335 FN1 2q35 fibronectin 1 2 2
AutG57491 AHRR 5p15.33 aryl-hydrocarbon receptor repressor 2 2
AutG283375 SLC39A5 12q13.3 solute carrier family 39 (metal ion transporter), member 5 2 2
AutG27131 SNX5 20p11.23 sorting nexin 5 2 2
AutG6646 SOAT1 1q25.2 sterol O-acyltransferase 1 2 2
AutG57717 PCDHB16 5q31.3 protocadherin beta 16 2 2
AutG10765 KDM5B 1q32.1 lysine (K)-specific demethylase 5B 2 2
AutG6569 SLC34A1 5q35.3 solute carrier family 34 (sodium phosphate), member 1 2 2
AutG1144 CHRND 2q37.1 cholinergic receptor, nicotinic, delta 2 2
AutG143689 PIWIL4 11q21 piwi-like 4 (Drosophila) 2 2
AutG8562 DENR 12q24.31 density-regulated protein 2 2
AutG1767 DNAH5 5p15.2 dynein, axonemal, heavy chain 5 2 2
AutG80724 ACAD10 12q24.12 acyl-CoA dehydrogenase family, member 10 2 2
AutG23258 DENND5A 11p15.4 DENN/MADD domain containing 5A 2 2
AutG4774 NFIA 1p31.3 nuclear factor I/A 2 2
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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