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
AutG27352 SGSM3 22q13.1 small G protein signaling modulator 3 2 1 1
AutG2185 PTK2B 8p21.2 PTK2B protein tyrosine kinase 2 beta 2 0 1
AutG23087 TRIM35 8p21.2 tripartite motif-containing 35 2 0 1
AutG8128 ST8SIA2 15q26.1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 2 1 1
AutG81551 STMN4 8p21.2 stathmin-like 4 2 0 1
AutG4363 ABCC1 16p13.11 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 2 6 1
AutG4747 NEFL 8p21.2 neurofilament, light polypeptide 2 1 1
AutG4741 NEFM 8p21.2 neurofilament, medium polypeptide 2 1 1
AutG5310 PKD1 16p13.3 polycystic kidney disease 1 (autosomal dominant) 2 0 1
AutG145773 FAM81A 15q22.2 family with sequence similarity 81, member A 2 3 1
AutG2272 FHIT 3p14.2 fragile histidine triad gene 2 6 1
AutG8795 TNFRSF10B 8p21.3 tumor necrosis factor receptor superfamily, member 10b 2 1 1
AutG9481 SLC25A27 6p12.3 solute carrier family 25, member 27 2 0 1
AutG2675 GFRA2 8p21.3 GDNF family receptor alpha 2 2 1 1
AutG203190 LGI3 8p21.3 leucine-rich repeat LGI family, member 3 2 1 1
AutG53942 CNTN5 11q22.1 contactin 5 2 1 1
AutG54832 VPS13C 15q22.2 vacuolar protein sorting 13 homolog C (S. cerevisiae) 2 1 1
AutG23753 SDF2L1 22q11.21 stromal cell-derived factor 2-like 1 3 3 1
AutG51312 SLC25A37 8p21.2 solute carrier family 25, member 37 2 1 1
AutG10174 SORBS3 8p21.3 sorbin and SH3 domain containing 3 2 1 1
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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