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 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 | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 6 (6) |
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 | ||||||
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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