AutismKB 2.0

Detail Information of AutCNV0000275

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
Caucasionautism - - - - 278 - 278 Wassink, 2001
Population: USA
Platform: -
Method: Chromosomal analysis of G-band
Marker:-
Band:16q13-22
Evidences:CNVs Only Present In Patients;
Region: Chr16: 55942499-74742499 (Deduced by Band)
Gain/Loss:loss
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
AutG6553 SLC9A5 0 0 0 1 1 0 13
AutG1006 CDH8 0 1 0 0 1 0 6
AutG9289 GPR56 0 0 0 3 1 0 5
AutG4502 MT2A 0 0 0 2 1 0 4
AutG6361 CCL17 0 0 0 2 1 0 4
AutG9114 ATP6V0D1 0 0 0 2 1 0 4
AutG6367 CCL22 0 0 0 2 1 0 4
AutG644314 MT1IP 0 0 0 1 1 0 3
AutG1071 CETP 0 0 0 1 1 0 3
AutG51192 CKLF 0 0 0 1 1 0 3
AutG81577 GFOD2 0 0 0 1 1 0 3
AutG1728 NQO1 0 0 0 1 1 0 3
AutG794 CALB2 0 0 0 1 1 0 3
AutG4489 MT1A 0 0 0 1 1 0 3
AutG4501 MT1X 0 0 0 1 1 0 3
AutG221188 GPR114 0 0 0 1 1 0 3
AutG2806 GOT2 0 0 0 1 1 0 3
AutG1009 CDH11 0 0 0 1 1 0 3
AutG123920 CMTM3 0 0 0 1 1 0 3
AutG51673 TPPP3 0 0 0 1 1 0 3
AutG146206 RLTPR 0 0 0 1 1 0 3
AutG9057 SLC7A6 0 0 0 1 1 0 3
AutG283971 CLEC18C 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