Evidence Details for CDH11
Basic Information Top
| Gene Symbol: | CDH11 ( CAD11,CDHOB,OB,OSF-4 ) |
|---|---|
| Gene Full Name: | cadherin 11, type 2, OB-cadherin (osteoblast) |
| Band: | 16q21 |
| Quick Links | Entrez ID:1009; OMIM: 600023; Uniprot ID:CAD11_HUMAN; ENSEMBL ID: ENSG00000140937; HGNC ID: 1750 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CDH11|1009|nucleotide
ATGAAGGAGAACTACTGTTTACAAGCCGCCCTGGTGTGCCTGGGCATGCTGTGCCACAGCCATGCCTTTGCCCCAGAGCGGCGGGGGCACCTGCGGCCCTCCTTC
CATGGGCACCATGAGAAGGGCAAGGAGGGGCAGGTGCTACAGCGCTCCAAGCGTGGCTGGGTCTGGAACCAGTTCTTCGTGATAGAGGAGTACACCGGGCCTGAC
CCCGTGCTTGTGGGCAGGCTTCATTCAGATATTGACTCTGGTGATGGGAACATTAAATACATTCTCTCAGGGGAAGGAGCTGGAACCATTTTTGTGATTGATGAC
AAATCAGGGAACATTCATGCCACCAAGACGTTGGATCGAGAAGAGAGAGCCCAGTACACGTTGATGGCTCAGGCGGTGGACAGGGACACCAATCGGCCACTGGAG
CCACCGTCGGAATTCATTGTCAAGGTCCAGGACATTAATGACAACCCTCCGGAGTTCCTGCACGAGACCTATCATGCCAACGTGCCTGAGAGGTCCAATGTGGGA
ACGTCAGTAATCCAGGTGACAGCTTCAGATGCAGATGACCCCACTTATGGAAATAGCGCCAAGTTAGTGTACAGTATCCTCGAAGGACAACCCTATTTTTCGGTG
GAAGCACAGACAGGTATCATCAGAACAGCCCTACCCAACATGGACAGGGAGGCCAAGGAGGAGTACCACGTGGTGATCCAGGCCAAGGACATGGGTGGACATATG
GGCGGACTCTCAGGGACAACCAAAGTGACGATCACACTGACCGATGTCAATGACAACCCACCAAAGTTTCCGCAGAGCGTATACCAGATGTCTGTGTCAGAAGCA
GCCGTCCCTGGGGAGGAAGTAGGAAGAGTGAAAGCTAAAGATCCAGACATTGGAGAAAATGGCTTAGTCACATACAATATTGTTGATGGAGATGGTATGGAATCG
TTTGAAATCACAACGGACTATGAAACACAGGAGGGGGTGATAAAGCTGAAAAAGCCTGTAGATTTTGAAACCAAAAGAGCCTATAGCTTGAAGGTAGAGGCAGCC
AACGTGCACATCGACCCGAAGTTTATCAGCAATGGCCCTTTCAAGGACACTGTGACCGTCAAGATCTCAGTAGAAGATGCTGATGAGCCCCCTATGTTCTTGGCC
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ATGAAGGAGAACTACTGTTTACAAGCCGCCCTGGTGTGCCTGGGCATGCTGTGCCACAGCCATGCCTTTGCCCCAGAGCGGCGGGGGCACCTGCGGCCCTCCTTC
CATGGGCACCATGAGAAGGGCAAGGAGGGGCAGGTGCTACAGCGCTCCAAGCGTGGCTGGGTCTGGAACCAGTTCTTCGTGATAGAGGAGTACACCGGGCCTGAC
CCCGTGCTTGTGGGCAGGCTTCATTCAGATATTGACTCTGGTGATGGGAACATTAAATACATTCTCTCAGGGGAAGGAGCTGGAACCATTTTTGTGATTGATGAC
AAATCAGGGAACATTCATGCCACCAAGACGTTGGATCGAGAAGAGAGAGCCCAGTACACGTTGATGGCTCAGGCGGTGGACAGGGACACCAATCGGCCACTGGAG
CCACCGTCGGAATTCATTGTCAAGGTCCAGGACATTAATGACAACCCTCCGGAGTTCCTGCACGAGACCTATCATGCCAACGTGCCTGAGAGGTCCAATGTGGGA
ACGTCAGTAATCCAGGTGACAGCTTCAGATGCAGATGACCCCACTTATGGAAATAGCGCCAAGTTAGTGTACAGTATCCTCGAAGGACAACCCTATTTTTCGGTG
GAAGCACAGACAGGTATCATCAGAACAGCCCTACCCAACATGGACAGGGAGGCCAAGGAGGAGTACCACGTGGTGATCCAGGCCAAGGACATGGGTGGACATATG
GGCGGACTCTCAGGGACAACCAAAGTGACGATCACACTGACCGATGTCAATGACAACCCACCAAAGTTTCCGCAGAGCGTATACCAGATGTCTGTGTCAGAAGCA
GCCGTCCCTGGGGAGGAAGTAGGAAGAGTGAAAGCTAAAGATCCAGACATTGGAGAAAATGGCTTAGTCACATACAATATTGTTGATGGAGATGGTATGGAATCG
TTTGAAATCACAACGGACTATGAAACACAGGAGGGGGTGATAAAGCTGAAAAAGCCTGTAGATTTTGAAACCAAAAGAGCCTATAGCTTGAAGGTAGAGGCAGCC
AACGTGCACATCGACCCGAAGTTTATCAGCAATGGCCCTTTCAAGGACACTGTGACCGTCAAGATCTCAGTAGAAGATGCTGATGAGCCCCCTATGTTCTTGGCC
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>CDH11|1009|protein
MKENYCLQAALVCLGMLCHSHAFAPERRGHLRPSFHGHHEKGKEGQVLQRSKRGWVWNQFFVIEEYTGPDPVLVGRLHSDIDSGDGNIKYILSGEGAGTIFVIDD
KSGNIHATKTLDREERAQYTLMAQAVDRDTNRPLEPPSEFIVKVQDINDNPPEFLHETYHANVPERSNVGTSVIQVTASDADDPTYGNSAKLVYSILEGQPYFSV
EAQTGIIRTALPNMDREAKEEYHVVIQAKDMGGHMGGLSGTTKVTITLTDVNDNPPKFPQSVYQMSVSEAAVPGEEVGRVKAKDPDIGENGLVTYNIVDGDGMES
FEITTDYETQEGVIKLKKPVDFETKRAYSLKVEAANVHIDPKFISNGPFKDTVTVKISVEDADEPPMFLAPSYIHEVQENAAAGTVVGRVHAKDPDAANSPIRYS
IDRHTDLDRFFTINPEDGFIKTTKPLDREETAWLNITVFAAEIHNRHQEAKVPVAIRVLDVNDNAPKFAAPYEGFICESDQTKPLSNQPIVTISADDKDDTANGP
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MKENYCLQAALVCLGMLCHSHAFAPERRGHLRPSFHGHHEKGKEGQVLQRSKRGWVWNQFFVIEEYTGPDPVLVGRLHSDIDSGDGNIKYILSGEGAGTIFVIDD
KSGNIHATKTLDREERAQYTLMAQAVDRDTNRPLEPPSEFIVKVQDINDNPPEFLHETYHANVPERSNVGTSVIQVTASDADDPTYGNSAKLVYSILEGQPYFSV
EAQTGIIRTALPNMDREAKEEYHVVIQAKDMGGHMGGLSGTTKVTITLTDVNDNPPKFPQSVYQMSVSEAAVPGEEVGRVKAKDPDIGENGLVTYNIVDGDGMES
FEITTDYETQEGVIKLKKPVDFETKRAYSLKVEAANVHIDPKFISNGPFKDTVTVKISVEDADEPPMFLAPSYIHEVQENAAAGTVVGRVHAKDPDAANSPIRYS
IDRHTDLDRFFTINPEDGFIKTTKPLDREETAWLNITVFAAEIHNRHQEAKVPVAIRVLDVNDNAPKFAAPYEGFICESDQTKPLSNQPIVTISADDKDDTANGP
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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) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 3 (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 |
| Crepel A, 2014 | - | FISH;aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | ![]() | ![]() | - | autism | 16 (6.25%) |
1.03297 | Up | 51.8393 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
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 | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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