AutismKB 2.0

Evidence Details for CDH22


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CDH22 ( C20orf25,MGC39564,dJ998H6.1 )
Gene Full Name: cadherin 22, type 2
Band: 20q13.12
Quick LinksEntrez ID:64405; OMIM: 609920; Uniprot ID:CAD22_HUMAN; ENSEMBL ID: ENSG00000149654; HGNC ID: 13251
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDH22|64405|nucleotide
ATGAGGCCGAGGCCCGAAGGTAGGGGGCTCCGGGCGGGAGTCGCGCTGTCCCCCGCGCTACTGCTGCTGCTGCTGCTGCCGCCGCCGCCGACGCTGCTGGGGCGC
CTGTGGGCAGCGGGCACACCCTCGCCGTCGGCGCCCGGAGCTCGGCAGGACGGCGCGCTGGGAGCCGGCCGCGTCAAACGCGGCTGGGTGTGGAACCAGTTCTTC
GTGGTAGAGGAGTACACGGGCACGGAGCCCCTGTATGTGGGCAAGATCCACTCCGACTCAGACGAGGGTGACGGGGCCATCAAGTACACCATCTCAGGCGAGGGT
GCTGGGACCATCTTCCTGATCGACGAGCTGACAGGCGACATTCATGCCATGGAGCGCCTGGACCGCGAGCAGAAAACCTTCTACACGCTGCGGGCCCAGGCTCGG
GATCGCGCCACCAACCGCCTACTGGAGCCCGAGTCGGAGTTCATCATCAAGGTGCAGGACATCAATGACAGTGAGCCCCGCTTCCTGCACGGCCCCTATATTGGC
AGCGTGGCCGAGCTCTCACCTACAGGCACGTCGGTGATGCAGGTGATGGCCTCGGATGCGGATGACCCCACGTACGGCAGCAGCGCTCGGCTGGTGTACAGCGTG
CTGGACGGCGAGCACCACTTCACCGTGGACCCCAAGACCGGCGTAATCCGGACGGCTGTGCCTGACCTTGACCGCGAGAGCCAGGAGCGCTACGAGGTGGTGATC
CAGGCCACAGACATGGCGGGTCAGCTGGGTGGCCTCTCGGGCTCCACTACCGTCACCATCGTAGTCACCGACGTCAATGACAACCCGCCCCGTTTCCCGCAGAAG
ATGTACCAGTTCAGCATCCAGGAGTCAGCCCCCATTGGAACGGCTGTGGGACGTGTGAAGGCTGAGGACTCAGACGTGGGAGAGAACACAGACATGACTTACCAC
CTTAAGGACGAGAGCAGCAGCGGCGGCGATGTGTTCAAGGTCACCACAGACAGCGACACTCAGGAGGCCATCATCGTAGTGCAGAAGCGCCTGGACTTCGAATCC
CAGCCCGTGCACACCGTGATCCTGGAGGCCCTCAACAAGTTCGTGGACCCCCGCTTCGCCGACCTGGGCACGTTCCGCGACCAGGCGATCGTGCGCGTGGCCGTG
Show »

>CDH22|64405|protein
MRPRPEGRGLRAGVALSPALLLLLLLPPPPTLLGRLWAAGTPSPSAPGARQDGALGAGRVKRGWVWNQFFVVEEYTGTEPLYVGKIHSDSDEGDGAIKYTISGEG
AGTIFLIDELTGDIHAMERLDREQKTFYTLRAQARDRATNRLLEPESEFIIKVQDINDSEPRFLHGPYIGSVAELSPTGTSVMQVMASDADDPTYGSSARLVYSV
LDGEHHFTVDPKTGVIRTAVPDLDRESQERYEVVIQATDMAGQLGGLSGSTTVTIVVTDVNDNPPRFPQKMYQFSIQESAPIGTAVGRVKAEDSDVGENTDMTYH
LKDESSSGGDVFKVTTDSDTQEAIIVVQKRLDFESQPVHTVILEALNKFVDPRFADLGTFRDQAIVRVAVTDVDEPPEFRPPSGLLEVQEDAQVGSLVGVVTARD
PDAANRPVRYAIDRESDLDQIFDIDADTGAIVTGKGLDRETAGWHNITVLAMEADNHAQLSRASLRIRILDVNDNPPELATPYEAAVCEDAKPGQLIQTISVVDR
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 2 (2) 0 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 10 (5)
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
Wang, 2009_1 Discovery Illumina HumanHap550 BeadChip 780 1299
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery Illumina HumanHap550 BeadChip 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top