Evidence Details for CDH6
Basic Information Top
| Gene Symbol: | CDH6 ( KCAD ) |
|---|---|
| Gene Full Name: | cadherin 6, type 2, K-cadherin (fetal kidney) |
| Band: | 5p13.3 |
| Quick Links | Entrez ID:1004; OMIM: 603007; Uniprot ID:CADH6_HUMAN; ENSEMBL ID: ENSG00000113361; HGNC ID: 1765 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CDH6|1004|nucleotide
ATGAGAACTTACCGCTACTTCTTGCTGCTCTTTTGGGTGGGCCAGCCCTACCCAACTCTCTCAACTCCACTATCAAAGAGGACTAGTGGTTTCCCAGCAAAGAAA
AGGGCCCTGGAGCTCTCTGGAAACAGCAAAAATGAGCTGAACCGTTCAAAAAGGAGCTGGATGTGGAATCAGTTCTTTCTCCTGGAGGAATACACAGGATCCGAT
TATCAGTATGTGGGCAAGTTACATTCAGACCAGGATAGAGGAGATGGATCACTTAAATATATCCTTTCAGGAGATGGAGCAGGAGATCTCTTCATTATTAATGAA
AACACAGGCGACATACAGGCCACCAAGAGGCTGGACAGGGAAGAAAAACCCGTTTACATCCTTCGAGCTCAAGCTATAAACAGAAGGACAGGGAGACCCGTGGAG
CCCGAGTCTGAATTCATCATCAAGATCCATGACATCAATGACAATGAACCAATATTCACCAAGGAGGTTTACACAGCCACTGTCCCTGAAATGTCTGATGTCGGT
ACATTTGTTGTCCAAGTCACTGCGACGGATGCAGATGATCCAACATATGGGAACAGTGCTAAAGTTGTCTACAGTATTCTACAGGGACAGCCCTATTTTTCAGTT
GAATCAGAAACAGGTATTATCAAGACAGCTTTGCTCAACATGGATCGAGAAAACAGGGAGCAGTACCAAGTGGTGATTCAAGCCAAGGATATGGGCGGCCAGATG
GGAGGATTATCTGGGACCACCACCGTGAACATCACACTGACTGATGTCAACGACAACCCTCCCCGATTCCCCCAGAGTACATACCAGTTTAAAACTCCTGAATCT
TCTCCACCGGGGACACCAATTGGCAGAATCAAAGCCAGCGACGCTGATGTGGGAGAAAATGCTGAAATTGAGTACAGCATCACAGACGGTGAGGGGCTGGATATG
TTTGATGTCATCACCGACCAGGAAACCCAGGAAGGGATTATAACTGTCAAAAAGCTCTTGGACTTTGAAAAGAAGAAAGTGTATACCCTTAAAGTGGAAGCCTCC
AATCCTTATGTTGAGCCACGATTTCTCTACTTGGGGCCTTTCAAAGATTCAGCCACGGTTAGAATTGTGGTGGAGGATGTAGATGAGCCACCTGTCTTCAGCAAA
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ATGAGAACTTACCGCTACTTCTTGCTGCTCTTTTGGGTGGGCCAGCCCTACCCAACTCTCTCAACTCCACTATCAAAGAGGACTAGTGGTTTCCCAGCAAAGAAA
AGGGCCCTGGAGCTCTCTGGAAACAGCAAAAATGAGCTGAACCGTTCAAAAAGGAGCTGGATGTGGAATCAGTTCTTTCTCCTGGAGGAATACACAGGATCCGAT
TATCAGTATGTGGGCAAGTTACATTCAGACCAGGATAGAGGAGATGGATCACTTAAATATATCCTTTCAGGAGATGGAGCAGGAGATCTCTTCATTATTAATGAA
AACACAGGCGACATACAGGCCACCAAGAGGCTGGACAGGGAAGAAAAACCCGTTTACATCCTTCGAGCTCAAGCTATAAACAGAAGGACAGGGAGACCCGTGGAG
CCCGAGTCTGAATTCATCATCAAGATCCATGACATCAATGACAATGAACCAATATTCACCAAGGAGGTTTACACAGCCACTGTCCCTGAAATGTCTGATGTCGGT
ACATTTGTTGTCCAAGTCACTGCGACGGATGCAGATGATCCAACATATGGGAACAGTGCTAAAGTTGTCTACAGTATTCTACAGGGACAGCCCTATTTTTCAGTT
GAATCAGAAACAGGTATTATCAAGACAGCTTTGCTCAACATGGATCGAGAAAACAGGGAGCAGTACCAAGTGGTGATTCAAGCCAAGGATATGGGCGGCCAGATG
GGAGGATTATCTGGGACCACCACCGTGAACATCACACTGACTGATGTCAACGACAACCCTCCCCGATTCCCCCAGAGTACATACCAGTTTAAAACTCCTGAATCT
TCTCCACCGGGGACACCAATTGGCAGAATCAAAGCCAGCGACGCTGATGTGGGAGAAAATGCTGAAATTGAGTACAGCATCACAGACGGTGAGGGGCTGGATATG
TTTGATGTCATCACCGACCAGGAAACCCAGGAAGGGATTATAACTGTCAAAAAGCTCTTGGACTTTGAAAAGAAGAAAGTGTATACCCTTAAAGTGGAAGCCTCC
AATCCTTATGTTGAGCCACGATTTCTCTACTTGGGGCCTTTCAAAGATTCAGCCACGGTTAGAATTGTGGTGGAGGATGTAGATGAGCCACCTGTCTTCAGCAAA
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>CDH6|1004|protein
MRTYRYFLLLFWVGQPYPTLSTPLSKRTSGFPAKKRALELSGNSKNELNRSKRSWMWNQFFLLEEYTGSDYQYVGKLHSDQDRGDGSLKYILSGDGAGDLFIINE
NTGDIQATKRLDREEKPVYILRAQAINRRTGRPVEPESEFIIKIHDINDNEPIFTKEVYTATVPEMSDVGTFVVQVTATDADDPTYGNSAKVVYSILQGQPYFSV
ESETGIIKTALLNMDRENREQYQVVIQAKDMGGQMGGLSGTTTVNITLTDVNDNPPRFPQSTYQFKTPESSPPGTPIGRIKASDADVGENAEIEYSITDGEGLDM
FDVITDQETQEGIITVKKLLDFEKKKVYTLKVEASNPYVEPRFLYLGPFKDSATVRIVVEDVDEPPVFSKLAYILQIREDAQINTTIGSVTAQDPDAARNPVKYS
VDRHTDMDRIFNIDSGNGSIFTSKLLDRETLLWHNITVIATEINNPKQSSRVPLYIKVLDVNDNAPEFAEFYETFVCEKAKADQLIQTLHAVDKDDPYSGHQFSF
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MRTYRYFLLLFWVGQPYPTLSTPLSKRTSGFPAKKRALELSGNSKNELNRSKRSWMWNQFFLLEEYTGSDYQYVGKLHSDQDRGDGSLKYILSGDGAGDLFIINE
NTGDIQATKRLDREEKPVYILRAQAINRRTGRPVEPESEFIIKIHDINDNEPIFTKEVYTATVPEMSDVGTFVVQVTATDADDPTYGNSAKVVYSILQGQPYFSV
ESETGIIKTALLNMDRENREQYQVVIQAKDMGGQMGGLSGTTTVNITLTDVNDNPPRFPQSTYQFKTPESSPPGTPIGRIKASDADVGENAEIEYSITDGEGLDM
FDVITDQETQEGIITVKKLLDFEKKKVYTLKVEASNPYVEPRFLYLGPFKDSATVRIVVEDVDEPPVFSKLAYILQIREDAQINTTIGSVTAQDPDAARNPVKYS
VDRHTDMDRIFNIDSGNGSIFTSKLLDRETLLWHNITVIATEINNPKQSSRVPLYIKVLDVNDNAPEFAEFYETFVCEKAKADQLIQTLHAVDKDDPYSGHQFSF
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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 | 0 (0) | 0 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 10 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| Hu, 2011_1 | USA | - | |  | ASD | - - |
- | 2438 (-) |
- - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Butler MG, 2015 | - | Illumina HiSeq2000 | | | ASD | - | - | - | 30 | Sanger sequencing |
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.