AutismKB 2.0

NGS de novo Mutation Related Gene List


Gene ID Gene Symbol Band Gene Name #de novo Studies Score
AutG2770 GNAI1 7q21.11 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 2 2
AutG6340 SCNN1G 16p12.2 sodium channel, nonvoltage-gated 1, gamma 2 2
AutG55262 C7orf43 7q22.1 chromosome 7 open reading frame 43 2 2
AutG154865 IQUB 7q31.32 IQ motif and ubiquitin domain containing 2 2
AutG4041 LRP5 11q13.2 low density lipoprotein receptor-related protein 5 2 2
AutG9777 TM9SF4 20q11.21 transmembrane 9 superfamily protein member 4 2 2
AutG2194 FASN 17q25.3 fatty acid synthase 2 2
AutG57555 NLGN2 17p13.1 neuroligin 2 2 2
AutG5430 POLR2A 17p13.1 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 2 2
AutG22997 IGSF9B 11q25 immunoglobulin superfamily, member 9B 2 2
AutG64101 LRRC4 7q32.1 leucine rich repeat containing 4 2 2
AutG8295 TRRAP 7q22.1 transformation/transcription domain-associated protein 2 2
AutG10343 PKDREJ 22q13.31 polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) 2 2
AutG55133 SRBD1 2p21 S1 RNA binding domain 1 2 2
AutG56243 KIAA1217 10p12.2-p12.1 KIAA1217 2 2
AutG55209 SETD5 3p25.3 SET domain containing 5 2 2
AutG2626 GATA4 8p23.1 GATA binding protein 4 2 2
AutG5587 PRKD1 14q12 protein kinase D1 2 2
AutG7273 TTN 2q31.2 titin 2 2
AutG11224 RPL35 9q33.3 ribosomal protein L35 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