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
AutG145624 PAR1 15q11.2 - 7 12 2
AutG23214 XPO6 16p11.2 exportin 6 4 1 2
AutG613037 LOC613037 16p11.2 - 4 8 2
AutG54456 MOV10L1 22q13.33 Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 4 6 2
AutG100033812 SNORD115-38 15q11.2 small nucleolar RNA, C/D box 115-38 7 12 2
AutG92595 ZNF764 16p11.2 zinc finger protein 764 4 0 2
AutG100033430 SNORD116-18 15q11.2 small nucleolar RNA, C/D box 116-18 7 12 2
AutG100033450 SNORD115-13 15q11.2 small nucleolar RNA, C/D box 115-13 7 12 2
AutG100033435 SNORD116-24 15q11.2 small nucleolar RNA, C/D box 116-24 7 12 2
AutG100033442 SNORD115-5 15q11.2 small nucleolar RNA, C/D box 115-5 7 12 2
AutG79001 VKORC1 16p11.2 vitamin K epoxide reductase complex, subunit 1 4 0 2
AutG6799 SULT1A2 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 4 0 2
AutG388910 NCRNA00207 22q13.31 non-protein coding RNA 207 4 1 2
AutG388242 LOC388242 16p11.2 - 5 8 2
AutG552900 BOLA2 16p11.2 bolA homolog 2 (E. coli) 5 10 2
AutG606551 UBE2MP1 16p11.2 ubiquitin-conjugating enzyme E2M pseudogene 1 4 2 2
AutG1339 COX6A2 16p11.2 cytochrome c oxidase subunit VIa polypeptide 2 4 1 2
AutG10423 CDIPT 16p11.2 CDP-diacylglycerol--inositol 3-phosphatidyltransferase 5 10 2
AutG100033821 SNORD116-29 15q11.2 small nucleolar RNA, C/D box 116-29 7 12 2
AutG1731 SEPT1 16p11.2 septin 1 4 1 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