AutismKB 2.0

Evidence Details for CDH11


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CDH11 ( CAD11,CDHOB,OB,OSF-4 )
Gene Full Name: cadherin 11, type 2, OB-cadherin (osteoblast)
Band: 16q21
Quick LinksEntrez ID:1009; OMIM: 600023; Uniprot ID:CAD11_HUMAN; ENSEMBL ID: ENSG00000140937; HGNC ID: 1750
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDH11|1009|nucleotide
ATGAAGGAGAACTACTGTTTACAAGCCGCCCTGGTGTGCCTGGGCATGCTGTGCCACAGCCATGCCTTTGCCCCAGAGCGGCGGGGGCACCTGCGGCCCTCCTTC
CATGGGCACCATGAGAAGGGCAAGGAGGGGCAGGTGCTACAGCGCTCCAAGCGTGGCTGGGTCTGGAACCAGTTCTTCGTGATAGAGGAGTACACCGGGCCTGAC
CCCGTGCTTGTGGGCAGGCTTCATTCAGATATTGACTCTGGTGATGGGAACATTAAATACATTCTCTCAGGGGAAGGAGCTGGAACCATTTTTGTGATTGATGAC
AAATCAGGGAACATTCATGCCACCAAGACGTTGGATCGAGAAGAGAGAGCCCAGTACACGTTGATGGCTCAGGCGGTGGACAGGGACACCAATCGGCCACTGGAG
CCACCGTCGGAATTCATTGTCAAGGTCCAGGACATTAATGACAACCCTCCGGAGTTCCTGCACGAGACCTATCATGCCAACGTGCCTGAGAGGTCCAATGTGGGA
ACGTCAGTAATCCAGGTGACAGCTTCAGATGCAGATGACCCCACTTATGGAAATAGCGCCAAGTTAGTGTACAGTATCCTCGAAGGACAACCCTATTTTTCGGTG
GAAGCACAGACAGGTATCATCAGAACAGCCCTACCCAACATGGACAGGGAGGCCAAGGAGGAGTACCACGTGGTGATCCAGGCCAAGGACATGGGTGGACATATG
GGCGGACTCTCAGGGACAACCAAAGTGACGATCACACTGACCGATGTCAATGACAACCCACCAAAGTTTCCGCAGAGCGTATACCAGATGTCTGTGTCAGAAGCA
GCCGTCCCTGGGGAGGAAGTAGGAAGAGTGAAAGCTAAAGATCCAGACATTGGAGAAAATGGCTTAGTCACATACAATATTGTTGATGGAGATGGTATGGAATCG
TTTGAAATCACAACGGACTATGAAACACAGGAGGGGGTGATAAAGCTGAAAAAGCCTGTAGATTTTGAAACCAAAAGAGCCTATAGCTTGAAGGTAGAGGCAGCC
AACGTGCACATCGACCCGAAGTTTATCAGCAATGGCCCTTTCAAGGACACTGTGACCGTCAAGATCTCAGTAGAAGATGCTGATGAGCCCCCTATGTTCTTGGCC
Show »

>CDH11|1009|protein
MKENYCLQAALVCLGMLCHSHAFAPERRGHLRPSFHGHHEKGKEGQVLQRSKRGWVWNQFFVIEEYTGPDPVLVGRLHSDIDSGDGNIKYILSGEGAGTIFVIDD
KSGNIHATKTLDREERAQYTLMAQAVDRDTNRPLEPPSEFIVKVQDINDNPPEFLHETYHANVPERSNVGTSVIQVTASDADDPTYGNSAKLVYSILEGQPYFSV
EAQTGIIRTALPNMDREAKEEYHVVIQAKDMGGHMGGLSGTTKVTITLTDVNDNPPKFPQSVYQMSVSEAAVPGEEVGRVKAKDPDIGENGLVTYNIVDGDGMES
FEITTDYETQEGVIKLKKPVDFETKRAYSLKVEAANVHIDPKFISNGPFKDTVTVKISVEDADEPPMFLAPSYIHEVQENAAAGTVVGRVHAKDPDAANSPIRYS
IDRHTDLDRFFTINPEDGFIKTTKPLDREETAWLNITVFAAEIHNRHQEAKVPVAIRVLDVNDNAPKFAAPYEGFICESDQTKPLSNQPIVTISADDKDDTANGP
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (1) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 3 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Crepel A, 2014 - FISH;aCGHautism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.03297 Up 51.8393
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1672611
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Doan RN, 2016 - ---ASD - - - - -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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