AutismKB 2.0

Copy Number Variation Related Gene List


We collected all the Copy Number Variants(CNVs) from related studies in the dataset. If the study gave the exact start and end point, we collected all the genes in the given region; if not, we deduced genomic region from the band, and collected all the genes in the band.
According to the number of related studies, genes in the dataset are scored 3, 2, 1. If one gene have 2 or more relate studies, and each study has at least one exact region for this gene, the gene will be listed below. The higher the score, the more confident the gene is. (More information about the dataset)
Gene ID Gene Symbol Band Gene Name #CNV studies Score
#Studies with exact region #Studies with deduced region
AutG100033436 SNORD116-25 15q11.2 small nucleolar RNA, C/D box 116-25 7 12 2
AutG81893 SLC7A5P1 16p11.2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 pseudogene 1 5 5 2
AutG51333 ZNF771 16p11.2 zinc finger protein 771 4 0 2
AutG29895 MYLPF 16p11.2 myosin light chain, phosphorylatable, fast skeletal muscle 4 1 2
AutG100033802 SNORD115-26 15q11.2 small nucleolar RNA, C/D box 115-26 7 12 2
AutG653390 RRN3P2 16p11.2 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2 4 0 2
AutG400935 IL17REL 22q13.33 interleukin 17 receptor E-like 5 5 2
AutG339010 POTEB 15q11.2 POTE ankyrin domain family, member B 8 5 2
AutG140883 ZNF280B 22q11.22 zinc finger protein 280B 4 4 2
AutG100033425 SNORD116-13 15q11.2 small nucleolar RNA, C/D box 116-13 7 12 2
AutG23209 MLC1 22q13.33 megalencephalic leukoencephalopathy with subcortical cysts 1 4 6 2
AutG26470 SEZ6L2 16p11.2 seizure related 6 homolog (mouse)-like 2 5 10 2
AutG79174 CRELD2 22q13.33 cysteine-rich with EGF-like domains 2 5 5 2
AutG8479 HIRIP3 16p11.2 HIRA interacting protein 3 5 10 2
AutG100033806 SNORD115-32 15q11.2 small nucleolar RNA, C/D box 115-32 7 12 2
AutG65988 ZNF747 16p11.2 zinc finger protein 747 4 0 2
AutG246778 IL27 16p12.1-p11.2 interleukin 27 4 0 2
AutG100144603 LOC100144603 22q13.33 - 4 4 2
AutG100033431 SNORD116-20 15q11.2 small nucleolar RNA, C/D box 116-20 7 12 2
AutG100033443 SNORD115-6 15q11.2 small nucleolar RNA, C/D box 115-6 7 12 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