Evidence Details for CDH20
Basic Information Top
| Gene Symbol: | CDH20 ( CDH7L3,Cdh7,FLJ37047 ) |
|---|---|
| Gene Full Name: | cadherin 20, type 2 |
| Band: | 18q21.33 |
| Quick Links | Entrez 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
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ATGTGGACTTCTGGTAGAATGAGCAATGCAAAGAACTGGCTTGGACTTGGCATGTCCTTGTACTTCTGGGGGCTGATGGACCTTACGACCACCGTTCTCTCGGAC
ACCCCAACACCACAAGGTGAATTAGAAGCACTCCTGTCAGACAAGCCACAGTCACATCAGCGGACCAAGAGGAGCTGGGTTTGGAACCAGTTTTTCGTTCTGGAA
GAGTACACTGGGACCGACCCTTTGTATGTCGGCAAGCTTCATTCAGATATGGACAGGGGAGACGGATCCATCAAATACATCCTCTCGGGAGAAGGTGCTGGCATC
GTGTTTACCATCGACGACACCACTGGAGACATCCACGCCATTCAGAGGCTCGACCGAGAGGAAAGAGCCCAGTATACTCTAAGGGCTCAAGCCCTAGACAGGCGG
ACGGGCAGGCCAATGGAGCCCGAGTCAGAGTTCATCATCAAAATTCAAGACATCAATGACAATGAGCCCAAGTTCCTGGACGGACCTTATGTGGCCACTGTGCCA
GAAATGTCCCCTGTGGGTACCTCCGTCATCCAAGTGACAGCCACAGATGCAGATGACCCGACCTACGGCAACAGTGCCAGGGTGGTGTACAGCATTCTTCAGGGC
CAGCCATATTTTTCTGTGGACTCTAAAACAGGTGTAATTAGGACAGCGCTCATGAACATGGACAGAGAAGCCAAAGAATACTACGAAGTGATTATCCAAGCCAAG
GACATGGGAGGGCAGCTTGGAGGATTAGCTGGGACCACAACAGTCAACATCACCCTCTCAGATGTCAATGATAACCCACCCCGCTTTCCCCAGAAACATTACCAG
ATGAGTGTGTTGGAATCAGCTCCAATTAGCTCCACTGTCGGGAGAGTGTTTGCCAAGGACTTGGATGAAGGCATCAATGCAGAGATGAAATATACTATTGTGGAT
GGAGATGGTGCAGATGCCTTTGACATTAGCACAGATCCCAATTTCCAAGTTGGTATCATAACTGTGAAGAAGCCCCTGAGTTTTGAAAGCAAGAAAAGCTACACC
TTAAAGGTGGAGGGAGCCAATCCTCACCTAGAGATGCGTTTTCTGAACTTGGGCCCATTTCAGGACACAACAACAGTGCACATCAGTGTGGAAGACGTGGACGAG
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>CDH20|28316|protein
MWTSGRMSNAKNWLGLGMSLYFWGLMDLTTTVLSDTPTPQGELEALLSDKPQSHQRTKRSWVWNQFFVLEEYTGTDPLYVGKLHSDMDRGDGSIKYILSGEGAGI
VFTIDDTTGDIHAIQRLDREERAQYTLRAQALDRRTGRPMEPESEFIIKIQDINDNEPKFLDGPYVATVPEMSPVGTSVIQVTATDADDPTYGNSARVVYSILQG
QPYFSVDSKTGVIRTALMNMDREAKEYYEVIIQAKDMGGQLGGLAGTTTVNITLSDVNDNPPRFPQKHYQMSVLESAPISSTVGRVFAKDLDEGINAEMKYTIVD
GDGADAFDISTDPNFQVGIITVKKPLSFESKKSYTLKVEGANPHLEMRFLNLGPFQDTTTVHISVEDVDEPPVFEPGFYFVEVPEDVAIGTTIQIISAKDPDVTN
NSIRYSIDRSSDPGRFFYVDITTGALMTARPLDREEFSWHNITVLAMEMNNPSQVGSVPVTIKVLDVNDNAPEFPRFYEAFVCENAKAGQLIQTVSAVDQDDPRN
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MWTSGRMSNAKNWLGLGMSLYFWGLMDLTTTVLSDTPTPQGELEALLSDKPQSHQRTKRSWVWNQFFVLEEYTGTDPLYVGKLHSDMDRGDGSIKYILSGEGAGI
VFTIDDTTGDIHAIQRLDREERAQYTLRAQALDRRTGRPMEPESEFIIKIQDINDNEPKFLDGPYVATVPEMSPVGTSVIQVTATDADDPTYGNSARVVYSILQG
QPYFSVDSKTGVIRTALMNMDREAKEYYEVIIQAKDMGGQLGGLAGTTTVNITLSDVNDNPPRFPQKHYQMSVLESAPISSTVGRVFAKDLDEGINAEMKYTIVD
GDGADAFDISTDPNFQVGIITVKKPLSFESKKSYTLKVEGANPHLEMRFLNLGPFQDTTTVHISVEDVDEPPVFEPGFYFVEVPEDVAIGTTIQIISAKDPDVTN
NSIRYSIDRSSDPGRFFYVDITTGALMTARPLDREEFSWHNITVLAMEMNNPSQVGSVPVTIKVLDVNDNAPEFPRFYEAFVCENAKAGQLIQTVSAVDQDDPRN
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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 microarray | ![]() | ![]() | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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