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
AutG26585 GREM1 15q13.3 gremlin 1 7 1 2
AutG440253 WHAMML2 15q13.1 WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene) 7 10 2
AutG421 ARVCF 22q11.21 armadillo repeat gene deleted in velocardiofacial syndrome 4 7 2
AutG7082 TJP1 15q13.1 tight junction protein 1 (zona occludens 1) 7 9 2
AutG25786 DGCR11 22q11.21 DiGeorge syndrome critical region gene 11 4 5 2
AutG23359 FAM189A1 15q13.1 family with sequence similarity 189, member A1 7 12 2
AutG128989 C22orf25 22q11.21 chromosome 22 open reading frame 25 4 7 2
AutG2928 GSC2 22q11.21 goosecoid homeobox 2 4 7 2
AutG6576 SLC25A1 22q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 4 7 2
AutG26610 ELP4 11p13 elongation protein 4 homolog (S. cerevisiae) 4 1 2
AutG89838 FAM7A1 15q13.3 family with sequence similarity 7, member A1 7 11 2
AutG8218 CLTCL1 22q11.21 clathrin, heavy chain-like 1 4 7 2
AutG6899 TBX1 22q11.21 T-box 1 4 7 2
AutG6263 RYR3 15q13.3-q14 ryanodine receptor 3 7 0 2
AutG27037 TRMT2A 22q11.21 TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae) 4 7 2
AutG51621 KLF13 15q13.3 Kruppel-like factor 13 8 13 2
AutG7290 HIRA 22q11.21 HIR histone cell cycle regulation defective homolog A (S. cerevisiae) 4 7 2
AutG5297 PI4KA 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha 4 7 2
AutG7353 UFD1L 22q11.21 ubiquitin fusion degradation 1 like (yeast) 4 7 2
AutG6447 SCG5 15q13.3 secretogranin V (7B2 protein) 7 4 2
Page Counts: 4/62  
4 First  Previous  3  4  5  Next  Last

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