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
AutG79077 DCTPP1 16p11.2 dCTP pyrophosphatase 1 4 0 2
AutG644186 C22orf41 22q13.33 chromosome 22 open reading frame 41 4 4 2
AutG79724 ZNF768 16p11.2 zinc finger protein 768 4 0 2
AutG29108 PYCARD 16p11.2 PYD and CARD domain containing 4 1 2
AutG283897 C16orf54 16p11.2 chromosome 16 open reading frame 54 5 10 2
AutG9997 SCO2 22q13.33 SCO cytochrome oxidase deficient homolog 2 (yeast) 4 4 2
AutG6911 TBX6 16p11.2 T-box 6 5 10 2
AutG55615 PRR5 22q13.31 proline rich 5 (renal) 4 1 2
AutG197407 ZNF48 16p11.2 zinc finger protein 48 4 1 2
AutG3683 ITGAL 16p11.2 integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 4 0 2
AutG440352 RUNDC2C 16p11.2 RUN domain containing 2C 4 1 2
AutG100033426 SNORD116-14 15q11.2 small nucleolar RNA, C/D box 116-14 7 12 2
AutG339005 WHAMML1 15q11.2 WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene) 7 10 2
AutG27040 LAT 16q13 linker for activation of T cells 6 2 2
AutG100033440 SNORD115-3 15q11.2 small nucleolar RNA, C/D box 115-3 7 12 2
AutG390539 OR4N3P 15q11.2 olfactory receptor, family 4, subfamily N, member 3 pseudogene 8 5 2
AutG283932 NCRNA00095 16p11.2 non-protein coding RNA 95 4 0 2
AutG100033437 SNORD115-2 15q11.2 small nucleolar RNA, C/D box 115-2 7 12 2
AutG791115 PWRN2 15q11.2 Prader-Willi region non-protein coding RNA 2 7 9 2
AutG100033413 SNORD116-1 15q11.2 small nucleolar RNA, C/D box 116-1 7 12 2
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  (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