Evidence Details for CDH8
Basic Information Top
| Gene Symbol: | CDH8 ( Nbla04261 ) |
|---|---|
| Gene Full Name: | cadherin 8, type 2 |
| Band: | 16q21 |
| Quick Links | Entrez ID:1006; OMIM: 603008; Uniprot ID:CADH8_HUMAN; ENSEMBL ID: ENSG00000150394; HGNC ID: 1767 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CDH8|1006|nucleotide
ATGCCAGAACGGCTAGCGGAAATGCTCTTGGATCTCTGGACTCCATTAATAATATTATGGATTACTCTTCCCCCTTGCATTTACATGGCTCCGATGAATCAGTCT
CAAGTTTTAATGAGTGGATCCCCTTTGGAACTAAACAGTCTGGGTGAAGAACAGCGAATTTTGAACCGCTCCAAAAGAGGCTGGGTTTGGAATCAAATGTTTGTC
CTGGAAGAGTTTTCTGGACCTGAACCGATTCTTGTTGGCCGGCTACACACAGACCTGGATCCTGGGAGCAAAAAAATCAAGTATATCCTATCAGGTGATGGAGCT
GGGACCATATTTCAAATAAATGATGTAACTGGAGATATCCATGCTATAAAAAGACTTGACCGGGAGGAAAAGGCTGAGTATACCCTAACAGCTCAAGCAGTGGAC
TGGGAGACAAGCAAACCTCTGGAGCCTCCTTCTGAATTTATTATTAAAGTTCAAGACATCAATGACAATGCACCAGAGTTTCTTAATGGACCCTATCATGCTACT
GTGCCAGAAATGTCCATTTTGGGTACATCTGTCACTAACGTCACTGCGACCGACGCTGATGACCCAGTTTATGGAAACAGTGCAAAGTTGGTTTATAGTATATTG
GAAGGGCAGCCTTATTTTTCCATTGAGCCTGAAACAGCTATTATAAAAACTGCCCTTCCCAACATGGACAGAGAAGCCAAGGAGGAGTACCTGGTTGTTATCCAA
GCCAAAGATATGGGTGGACACTCTGGTGGCCTGTCTGGGACCACGACACTTACAGTGACTCTTACTGATGTTAATGACAATCCTCCAAAATTTGCACAGAGCCTG
TATCACTTCTCAGTACCGGAAGATGTGGTTCTTGGCACTGCAATAGGAAGGGTGAAGGCCAATGATCAGGATATTGGTGAAAATGCACAGTCATCATATGATATC
ATCGATGGAGATGGAACAGCACTTTTTGAAATCACTTCTGATGCCCAGGCCCAGGATGGCATTATAAGGCTAAGAAAACCTCTGGACTTTGAGACCAAAAAATCC
TATACGCTAAAGGTAGAGGCAGCCAATGTCCATATTGACCCACGCTTCAGTGGCAGGGGGCCCTTTAAAGACACGGCGACAGTCAAAATCGTGGTTGAAGATGCT
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ATGCCAGAACGGCTAGCGGAAATGCTCTTGGATCTCTGGACTCCATTAATAATATTATGGATTACTCTTCCCCCTTGCATTTACATGGCTCCGATGAATCAGTCT
CAAGTTTTAATGAGTGGATCCCCTTTGGAACTAAACAGTCTGGGTGAAGAACAGCGAATTTTGAACCGCTCCAAAAGAGGCTGGGTTTGGAATCAAATGTTTGTC
CTGGAAGAGTTTTCTGGACCTGAACCGATTCTTGTTGGCCGGCTACACACAGACCTGGATCCTGGGAGCAAAAAAATCAAGTATATCCTATCAGGTGATGGAGCT
GGGACCATATTTCAAATAAATGATGTAACTGGAGATATCCATGCTATAAAAAGACTTGACCGGGAGGAAAAGGCTGAGTATACCCTAACAGCTCAAGCAGTGGAC
TGGGAGACAAGCAAACCTCTGGAGCCTCCTTCTGAATTTATTATTAAAGTTCAAGACATCAATGACAATGCACCAGAGTTTCTTAATGGACCCTATCATGCTACT
GTGCCAGAAATGTCCATTTTGGGTACATCTGTCACTAACGTCACTGCGACCGACGCTGATGACCCAGTTTATGGAAACAGTGCAAAGTTGGTTTATAGTATATTG
GAAGGGCAGCCTTATTTTTCCATTGAGCCTGAAACAGCTATTATAAAAACTGCCCTTCCCAACATGGACAGAGAAGCCAAGGAGGAGTACCTGGTTGTTATCCAA
GCCAAAGATATGGGTGGACACTCTGGTGGCCTGTCTGGGACCACGACACTTACAGTGACTCTTACTGATGTTAATGACAATCCTCCAAAATTTGCACAGAGCCTG
TATCACTTCTCAGTACCGGAAGATGTGGTTCTTGGCACTGCAATAGGAAGGGTGAAGGCCAATGATCAGGATATTGGTGAAAATGCACAGTCATCATATGATATC
ATCGATGGAGATGGAACAGCACTTTTTGAAATCACTTCTGATGCCCAGGCCCAGGATGGCATTATAAGGCTAAGAAAACCTCTGGACTTTGAGACCAAAAAATCC
TATACGCTAAAGGTAGAGGCAGCCAATGTCCATATTGACCCACGCTTCAGTGGCAGGGGGCCCTTTAAAGACACGGCGACAGTCAAAATCGTGGTTGAAGATGCT
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>CDH8|1006|protein
MPERLAEMLLDLWTPLIILWITLPPCIYMAPMNQSQVLMSGSPLELNSLGEEQRILNRSKRGWVWNQMFVLEEFSGPEPILVGRLHTDLDPGSKKIKYILSGDGA
GTIFQINDVTGDIHAIKRLDREEKAEYTLTAQAVDWETSKPLEPPSEFIIKVQDINDNAPEFLNGPYHATVPEMSILGTSVTNVTATDADDPVYGNSAKLVYSIL
EGQPYFSIEPETAIIKTALPNMDREAKEEYLVVIQAKDMGGHSGGLSGTTTLTVTLTDVNDNPPKFAQSLYHFSVPEDVVLGTAIGRVKANDQDIGENAQSSYDI
IDGDGTALFEITSDAQAQDGIIRLRKPLDFETKKSYTLKVEAANVHIDPRFSGRGPFKDTATVKIVVEDADEPPVFSSPTYLLEVHENAALNSVIGQVTARDPDI
TSSPIRFSIDRHTDLERQFNINADDGKITLATPLDRELSVWHNITIIATEIRNHSQISRVPVAIKVLDVNDNAPEFASEYEAFLCENGKPGQVIQTVSAMDKDDP
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MPERLAEMLLDLWTPLIILWITLPPCIYMAPMNQSQVLMSGSPLELNSLGEEQRILNRSKRGWVWNQMFVLEEFSGPEPILVGRLHTDLDPGSKKIKYILSGDGA
GTIFQINDVTGDIHAIKRLDREEKAEYTLTAQAVDWETSKPLEPPSEFIIKVQDINDNAPEFLNGPYHATVPEMSILGTSVTNVTATDADDPVYGNSAKLVYSIL
EGQPYFSIEPETAIIKTALPNMDREAKEEYLVVIQAKDMGGHSGGLSGTTTLTVTLTDVNDNPPKFAQSLYHFSVPEDVVLGTAIGRVKANDQDIGENAQSSYDI
IDGDGTALFEITSDAQAQDGIIRLRKPLDFETKKSYTLKVEAANVHIDPRFSGRGPFKDTATVKIVVEDADEPPVFSSPTYLLEVHENAALNSVIGQVTARDPDI
TSSPIRFSIDRHTDLERQFNINADDGKITLATPLDRELSVWHNITIIATEIRNHSQISRVPVAIKVLDVNDNAPEFASEYEAFLCENGKPGQVIQTVSAMDKDDP
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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 | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 6 (6) |
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 | |||||||||||
| 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-band | | | autism | - | - | - | - | 278 | - | 278 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top