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
AutG3684 ITGAM 16p11.2 integrin, alpha M (complement component 3 receptor 3 subunit) 4 1 2
AutG1375 CPT1B 22q13.33 carnitine palmitoyltransferase 1B (muscle) 4 4 2
AutG6693 SPN 16p11.2 sialophorin 5 10 2
AutG100033813 SNORD115-39 15q11.2 small nucleolar RNA, C/D box 115-39 7 12 2
AutG9274 BCL7C 16p11.2 B-cell CLL/lymphoma 7C 4 0 2
AutG9228 DLGAP2 8p23.3 discs, large (Drosophila) homolog-associated protein 2 4 4 2
AutG100033460 SNORD115-20 15q11.2 small nucleolar RNA, C/D box 115-20 7 12 2
AutG113730 KLHDC7B 22q13.33 kelch domain containing 7B 4 4 2
AutG930 CD19 16p11.2 CD19 molecule 7 2 2
AutG100033427 SNORD116-15 15q11.2 small nucleolar RNA, C/D box 116-15 7 12 2
AutG80270 HSD3B7 16p11.2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 4 0 2
AutG100036564 HBII-52-27 15q11.2 - 7 12 2
AutG146547 PRSS36 16p11.2 protease, serine, 36 4 1 2
AutG23361 ZNF629 16p11.2 zinc finger protein 629 4 0 2
AutG51327 AHSP 16p11.2 alpha hemoglobin stabilizing protein 4 1 2
AutG91289 LMF2 22q13.33 lipase maturation factor 2 5 4 2
AutG7681 MKRN3 15q11.2 makorin ring finger protein 3 8 8 2
AutG653399 GSTTP2 22q11.23 alternate reference locus glutathione S-transferase theta pseudogene 2 4 3 2
AutG440353 LOC440353 16p11.2 - 4 1 2
AutG386757 SLC6A10P 16p11.2 solute carrier family 6 (neurotransmitter transporter, creatine), member 10 (pseudogene) 4 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