Evidence Details for CDH22
Basic Information Top
| Gene Symbol: | CDH22 ( C20orf25,MGC39564,dJ998H6.1 ) |
|---|---|
| Gene Full Name: | cadherin 22, type 2 |
| Band: | 20q13.12 |
| Quick Links | Entrez 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 »
ATGAGGCCGAGGCCCGAAGGTAGGGGGCTCCGGGCGGGAGTCGCGCTGTCCCCCGCGCTACTGCTGCTGCTGCTGCTGCCGCCGCCGCCGACGCTGCTGGGGCGC
CTGTGGGCAGCGGGCACACCCTCGCCGTCGGCGCCCGGAGCTCGGCAGGACGGCGCGCTGGGAGCCGGCCGCGTCAAACGCGGCTGGGTGTGGAACCAGTTCTTC
GTGGTAGAGGAGTACACGGGCACGGAGCCCCTGTATGTGGGCAAGATCCACTCCGACTCAGACGAGGGTGACGGGGCCATCAAGTACACCATCTCAGGCGAGGGT
GCTGGGACCATCTTCCTGATCGACGAGCTGACAGGCGACATTCATGCCATGGAGCGCCTGGACCGCGAGCAGAAAACCTTCTACACGCTGCGGGCCCAGGCTCGG
GATCGCGCCACCAACCGCCTACTGGAGCCCGAGTCGGAGTTCATCATCAAGGTGCAGGACATCAATGACAGTGAGCCCCGCTTCCTGCACGGCCCCTATATTGGC
AGCGTGGCCGAGCTCTCACCTACAGGCACGTCGGTGATGCAGGTGATGGCCTCGGATGCGGATGACCCCACGTACGGCAGCAGCGCTCGGCTGGTGTACAGCGTG
CTGGACGGCGAGCACCACTTCACCGTGGACCCCAAGACCGGCGTAATCCGGACGGCTGTGCCTGACCTTGACCGCGAGAGCCAGGAGCGCTACGAGGTGGTGATC
CAGGCCACAGACATGGCGGGTCAGCTGGGTGGCCTCTCGGGCTCCACTACCGTCACCATCGTAGTCACCGACGTCAATGACAACCCGCCCCGTTTCCCGCAGAAG
ATGTACCAGTTCAGCATCCAGGAGTCAGCCCCCATTGGAACGGCTGTGGGACGTGTGAAGGCTGAGGACTCAGACGTGGGAGAGAACACAGACATGACTTACCAC
CTTAAGGACGAGAGCAGCAGCGGCGGCGATGTGTTCAAGGTCACCACAGACAGCGACACTCAGGAGGCCATCATCGTAGTGCAGAAGCGCCTGGACTTCGAATCC
CAGCCCGTGCACACCGTGATCCTGGAGGCCCTCAACAAGTTCGTGGACCCCCGCTTCGCCGACCTGGGCACGTTCCGCGACCAGGCGATCGTGCGCGTGGCCGTG
Show »
>CDH22|64405|protein
MRPRPEGRGLRAGVALSPALLLLLLLPPPPTLLGRLWAAGTPSPSAPGARQDGALGAGRVKRGWVWNQFFVVEEYTGTEPLYVGKIHSDSDEGDGAIKYTISGEG
AGTIFLIDELTGDIHAMERLDREQKTFYTLRAQARDRATNRLLEPESEFIIKVQDINDSEPRFLHGPYIGSVAELSPTGTSVMQVMASDADDPTYGSSARLVYSV
LDGEHHFTVDPKTGVIRTAVPDLDRESQERYEVVIQATDMAGQLGGLSGSTTVTIVVTDVNDNPPRFPQKMYQFSIQESAPIGTAVGRVKAEDSDVGENTDMTYH
LKDESSSGGDVFKVTTDSDTQEAIIVVQKRLDFESQPVHTVILEALNKFVDPRFADLGTFRDQAIVRVAVTDVDEPPEFRPPSGLLEVQEDAQVGSLVGVVTARD
PDAANRPVRYAIDRESDLDQIFDIDADTGAIVTGKGLDRETAGWHNITVLAMEADNHAQLSRASLRIRILDVNDNPPELATPYEAAVCEDAKPGQLIQTISVVDR
Show »
MRPRPEGRGLRAGVALSPALLLLLLLPPPPTLLGRLWAAGTPSPSAPGARQDGALGAGRVKRGWVWNQFFVVEEYTGTEPLYVGKIHSDSDEGDGAIKYTISGEG
AGTIFLIDELTGDIHAMERLDREQKTFYTLRAQARDRATNRLLEPESEFIIKVQDINDSEPRFLHGPYIGSVAELSPTGTSVMQVMASDADDPTYGSSARLVYSV
LDGEHHFTVDPKTGVIRTAVPDLDRESQERYEVVIQATDMAGQLGGLSGSTTVTIVVTDVNDNPPRFPQKMYQFSIQESAPIGTAVGRVKAEDSDVGENTDMTYH
LKDESSSGGDVFKVTTDSDTQEAIIVVQKRLDFESQPVHTVILEALNKFVDPRFADLGTFRDQAIVRVAVTDVDEPPEFRPPSGLLEVQEDAQVGSLVGVVTARD
PDAANRPVRYAIDRESDLDQIFDIDADTGAIVTGKGLDRETAGWHNITVLAMEADNHAQLSRASLRIRILDVNDNPPELATPYEAAVCEDAKPGQLIQTISVVDR
Show »
Evidence summary TopClick 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 TopGenome-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 | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.