AutismKB 2.0

NGS de novo Mutation Related Gene List


Gene ID Gene Symbol Band Gene Name #de novo Studies Score
AutG23126 POGZ 1q21.3 pogo transposable element with ZNF domain 2 2
AutG29123 ANKRD11 16q24.3 ankyrin repeat domain 11 2 2
AutG7249 TSC2 16p13.3 tuberous sclerosis 2 2 2
AutG8831 SYNGAP1 6p21.32 synaptic Ras GTPase activating protein 1 2 2
AutG3778 KCNMA1 10q22.3 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 2 2
AutG23040 MYT1L 2p25.3 myelin transcription factor 1-like 2 2
AutG6812 STXBP1 9q34.11 syntaxin binding protein 1 2 2
AutG5528 PPP2R5D 6p21.1 protein phosphatase 2, regulatory subunit B', delta 2 2
AutG342132 ZNF774 15q26.1 zinc finger protein 774 2 2
AutG26040 SETBP1 18q12.3 SET binding protein 1 2 2
AutG301 ANXA1 9q21.13 annexin A1 2 2
AutG6531 SLC6A3 5p15.33 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 2 2
AutG23167 EFR3A 8q24.22 EFR3 homolog A (S. cerevisiae) 2 2
AutG7982 ST7 7q31.2 suppression of tumorigenicity 7 2 2
AutG23001 WDFY3 4q21.23 WD repeat and FYVE domain containing 3 2 2
AutG9901 SRGAP3 3p25.3 SLIT-ROBO Rho GTPase activating protein 3 2 2
AutG4036 LRP2 2q31.1 low density lipoprotein receptor-related protein 2 2 2
AutG5781 PTPN11 12q24.13 protein tyrosine phosphatase, non-receptor type 11 2 2
AutG2555 GABRA2 4p12 gamma-aminobutyric acid (GABA) A receptor, alpha 2 2 2
AutG9318 COPS2 15q21.2 COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) 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