AutismKB 2.0

Detail Information of AutCNV0000699

1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not MentionedASD - - - - 396 5023 5419 Berkel, 2010
Complication: Yes
Population: Canada
Platform: Affymetrix SNP Array 6.0/Illumina Infinium 1M single SNP array
Method: SNP microarray
Marker:null
Band:6p21
Evidences:CNVs Only Present In Patients; CNVs Not Present In Control;
Region: Chr6: 29792021-45092022
Gain/Loss:Gain
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID Gene Symbol Inheritance Evidence Level
No data!
3. Related Non-syndromic Genes Top
Gene ID Gene Symbol Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG721 C4B 3 0 3 2 1 0 40
AutG5528 PPP2R5D 0 0 1 0 1 0 32
AutG3123 HLA-DRB1 3 0 2 1 1 0 29
AutG10864 SLC22A7 0 1 0 0 1 0 16
AutG24149 ZNF318 0 1 0 0 1 0 16
AutG55633 TBC1D22B 0 1 0 0 1 0 14
AutG5089 PBX2 0 0 0 1 1 0 13
AutG5603 MAPK13 0 0 0 1 1 0 13
AutG2739 GLO1 0 0 1 1 1 0 13
AutG6428 SRSF3 0 0 1 0 1 0 12
AutG3106 HLA-B 2 0 0 0 1 0 6
AutG84630 TTBK1 0 1 0 0 1 0 6
AutG401262 CRIP3 0 1 0 0 1 0 6
AutG89845 ABCC10 0 1 0 0 1 0 6
AutG1192 CLIC1 0 0 0 3 1 0 5
AutG3105 HLA-A 1 0 0 1 1 0 5
AutG3303 HSPA1A 0 0 0 3 1 0 5
AutG8870 IER3 0 0 0 2 1 0 4
AutG534 ATP6V1G2 0 0 0 2 1 0 4
AutG3135 HLA-G 0 0 0 1 1 0 3
AutG3138 HLA-K 0 0 0 1 1 0 3
AutG199 AIF1 0 0 0 1 1 0 3
AutG3305 HSPA1L 0 0 0 1 1 0 3
AutG3304 HSPA1B 0 0 0 1 1 0 3
AutG3117 HLA-DQA1 0 0 0 1 1 0 3
AutG6890 TAP1 0 0 0 1 1 0 3
AutG6257 RXRB 0 0 0 1 1 0 3
AutG1026 CDKN1A 0 0 0 1 1 0 3
AutG2030 SLC29A1 0 0 0 1 1 0 3
AutG3136 HLA-H 0 0 0 1 1 0 3
AutG780 DDR1 0 0 0 1 1 0 3
AutG352961 HCG26 0 0 0 1 1 0 3
AutG259197 NCR3 0 0 0 1 1 0 3
AutG55937 APOM 0 0 0 1 1 0 3
AutG7407 VARS 0 0 0 1 1 0 3
AutG3119 HLA-DQB1 0 0 0 1 1 0 3
AutG6046 BRD2 0 0 0 1 1 0 3
AutG29993 PACSIN1 0 0 0 1 1 0 3
AutG10695 CNPY3 0 0 0 1 1 0 3

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