AutismKB 2.0

Evidence Details for CDH20


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CDH20 ( CDH7L3,Cdh7,FLJ37047 )
Gene Full Name: cadherin 20, type 2
Band: 18q21.33
Quick LinksEntrez ID:28316; OMIM: 605807; Uniprot ID:CAD20_HUMAN; ENSEMBL ID: ENSG00000101542; HGNC ID: 1760
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDH20|28316|nucleotide
ATGTGGACTTCTGGTAGAATGAGCAATGCAAAGAACTGGCTTGGACTTGGCATGTCCTTGTACTTCTGGGGGCTGATGGACCTTACGACCACCGTTCTCTCGGAC
ACCCCAACACCACAAGGTGAATTAGAAGCACTCCTGTCAGACAAGCCACAGTCACATCAGCGGACCAAGAGGAGCTGGGTTTGGAACCAGTTTTTCGTTCTGGAA
GAGTACACTGGGACCGACCCTTTGTATGTCGGCAAGCTTCATTCAGATATGGACAGGGGAGACGGATCCATCAAATACATCCTCTCGGGAGAAGGTGCTGGCATC
GTGTTTACCATCGACGACACCACTGGAGACATCCACGCCATTCAGAGGCTCGACCGAGAGGAAAGAGCCCAGTATACTCTAAGGGCTCAAGCCCTAGACAGGCGG
ACGGGCAGGCCAATGGAGCCCGAGTCAGAGTTCATCATCAAAATTCAAGACATCAATGACAATGAGCCCAAGTTCCTGGACGGACCTTATGTGGCCACTGTGCCA
GAAATGTCCCCTGTGGGTACCTCCGTCATCCAAGTGACAGCCACAGATGCAGATGACCCGACCTACGGCAACAGTGCCAGGGTGGTGTACAGCATTCTTCAGGGC
CAGCCATATTTTTCTGTGGACTCTAAAACAGGTGTAATTAGGACAGCGCTCATGAACATGGACAGAGAAGCCAAAGAATACTACGAAGTGATTATCCAAGCCAAG
GACATGGGAGGGCAGCTTGGAGGATTAGCTGGGACCACAACAGTCAACATCACCCTCTCAGATGTCAATGATAACCCACCCCGCTTTCCCCAGAAACATTACCAG
ATGAGTGTGTTGGAATCAGCTCCAATTAGCTCCACTGTCGGGAGAGTGTTTGCCAAGGACTTGGATGAAGGCATCAATGCAGAGATGAAATATACTATTGTGGAT
GGAGATGGTGCAGATGCCTTTGACATTAGCACAGATCCCAATTTCCAAGTTGGTATCATAACTGTGAAGAAGCCCCTGAGTTTTGAAAGCAAGAAAAGCTACACC
TTAAAGGTGGAGGGAGCCAATCCTCACCTAGAGATGCGTTTTCTGAACTTGGGCCCATTTCAGGACACAACAACAGTGCACATCAGTGTGGAAGACGTGGACGAG
Show »

>CDH20|28316|protein
MWTSGRMSNAKNWLGLGMSLYFWGLMDLTTTVLSDTPTPQGELEALLSDKPQSHQRTKRSWVWNQFFVLEEYTGTDPLYVGKLHSDMDRGDGSIKYILSGEGAGI
VFTIDDTTGDIHAIQRLDREERAQYTLRAQALDRRTGRPMEPESEFIIKIQDINDNEPKFLDGPYVATVPEMSPVGTSVIQVTATDADDPTYGNSARVVYSILQG
QPYFSVDSKTGVIRTALMNMDREAKEYYEVIIQAKDMGGQLGGLAGTTTVNITLSDVNDNPPRFPQKHYQMSVLESAPISSTVGRVFAKDLDEGINAEMKYTIVD
GDGADAFDISTDPNFQVGIITVKKPLSFESKKSYTLKVEGANPHLEMRFLNLGPFQDTTTVHISVEDVDEPPVFEPGFYFVEVPEDVAIGTTIQIISAKDPDVTN
NSIRYSIDRSSDPGRFFYVDITTGALMTARPLDREEFSWHNITVLAMEMNNPSQVGSVPVTIKVLDVNDNAPEFPRFYEAFVCENAKAGQLIQTVSAVDQDDPRN
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) 0 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (4)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top