Evidence Details for CNTN6
Basic Information Top
| Gene Symbol: | CNTN6 ( MGC133256,NB3 ) |
|---|---|
| Gene Full Name: | contactin 6 |
| Band: | 3p26.3 |
| Quick Links | Entrez ID:27255; OMIM: 607220; Uniprot ID:CNTN6_HUMAN; ENSEMBL ID: ENSG00000134115; HGNC ID: 2176 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CNTN6|27255|nucleotide
ATGAGGTTGCTATGGAAACTGGTAATTCTGCTGCCACTCATAAACTCTTCTGCAGGTGATGGTCTTTTAAGCCGTCCTATTTTTACTCAGGAGCCACATGATGTC
ATTTTTCCTTTGGATTTATCAAAATCTGAGGTCATCCTGAATTGTGCTGCTAATGGTTACCCTTCGCCTCATTATAGGTGGAAGCAAAATGGCACAGACATTGAT
TTTACTATGAGTTATCACTACAGGTTGGATGGAGGCAGTCTTGCAATCAATAGCCCCCACACAGATCAAGATATTGGCATGTACCAGTGCCTGGCCACCAATCTT
CTGGGGACAATTCTGAGTCGGAAGGCAAAGCTCCAATTTGCATATATTGAAGACTTTGAAACTAAAACAAGAAGCACAGTATCTGTCCGAGAAGGTCAAGGTGTG
GTGCTTCTCTGTGGCCCACCGCCACATTTTGGAGATTTATCTTATGCATGGACCTTCAATGATAACCCCTTATACGTCCAAGAGGACAATAGGCGATTTGTATCT
CAAGAGACGGGAAACTTGTACATTGCCAAAGTGGAACCATCAGATGTGGGCAACTACACTTGCTTTATAACTAACAAAGAGGCCCAGAGAAGTGTTCAAGGTCCA
CCCACTCCATTAGTGCAGCGCACTGATGGTGTGATGGGGGAATATGAACCAAAGATTGAAGTGCGTTTTCCTGAAACTATACAAGCTGCAAAGGATTCATCTGTA
AAACTGGAATGTTTTGCCCTTGGAAATCCAGTCCCCGATATTAGTTGGAGAAGGTTGGACGGGAGCCCGTTGCCAGGGAAAGTCAAGTACAGCAAATCCCAAGCT
ATCCTTGAAATCCCGAACTTCCAACAAGAAGATGAAGGCTTTTATGAGTGCATTGCAAGCAACCTTCGAGGAAGAAACCTTGCAAAGGGTCAACTCATTTTTTAT
GCTCCTCCAGAATGGGAACAGAAAATCCAAAATACACACCTCTCTATCTATGACAACTTGCTCTGGGAATGTAAAGCTAGTGGAAAGCCAAACCCTTGGTATACA
TGGTTAAAAAATGGTGAACGACTCAACCCAGAGGAGAGAATTCAAATAGAAAATGGGACACTCATCATAACGATGCTGAATGTGTCAGATTCTGGTGTGTACCAA
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ATGAGGTTGCTATGGAAACTGGTAATTCTGCTGCCACTCATAAACTCTTCTGCAGGTGATGGTCTTTTAAGCCGTCCTATTTTTACTCAGGAGCCACATGATGTC
ATTTTTCCTTTGGATTTATCAAAATCTGAGGTCATCCTGAATTGTGCTGCTAATGGTTACCCTTCGCCTCATTATAGGTGGAAGCAAAATGGCACAGACATTGAT
TTTACTATGAGTTATCACTACAGGTTGGATGGAGGCAGTCTTGCAATCAATAGCCCCCACACAGATCAAGATATTGGCATGTACCAGTGCCTGGCCACCAATCTT
CTGGGGACAATTCTGAGTCGGAAGGCAAAGCTCCAATTTGCATATATTGAAGACTTTGAAACTAAAACAAGAAGCACAGTATCTGTCCGAGAAGGTCAAGGTGTG
GTGCTTCTCTGTGGCCCACCGCCACATTTTGGAGATTTATCTTATGCATGGACCTTCAATGATAACCCCTTATACGTCCAAGAGGACAATAGGCGATTTGTATCT
CAAGAGACGGGAAACTTGTACATTGCCAAAGTGGAACCATCAGATGTGGGCAACTACACTTGCTTTATAACTAACAAAGAGGCCCAGAGAAGTGTTCAAGGTCCA
CCCACTCCATTAGTGCAGCGCACTGATGGTGTGATGGGGGAATATGAACCAAAGATTGAAGTGCGTTTTCCTGAAACTATACAAGCTGCAAAGGATTCATCTGTA
AAACTGGAATGTTTTGCCCTTGGAAATCCAGTCCCCGATATTAGTTGGAGAAGGTTGGACGGGAGCCCGTTGCCAGGGAAAGTCAAGTACAGCAAATCCCAAGCT
ATCCTTGAAATCCCGAACTTCCAACAAGAAGATGAAGGCTTTTATGAGTGCATTGCAAGCAACCTTCGAGGAAGAAACCTTGCAAAGGGTCAACTCATTTTTTAT
GCTCCTCCAGAATGGGAACAGAAAATCCAAAATACACACCTCTCTATCTATGACAACTTGCTCTGGGAATGTAAAGCTAGTGGAAAGCCAAACCCTTGGTATACA
TGGTTAAAAAATGGTGAACGACTCAACCCAGAGGAGAGAATTCAAATAGAAAATGGGACACTCATCATAACGATGCTGAATGTGTCAGATTCTGGTGTGTACCAA
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>CNTN6|27255|protein
MRLLWKLVILLPLINSSAGDGLLSRPIFTQEPHDVIFPLDLSKSEVILNCAANGYPSPHYRWKQNGTDIDFTMSYHYRLDGGSLAINSPHTDQDIGMYQCLATNL
LGTILSRKAKLQFAYIEDFETKTRSTVSVREGQGVVLLCGPPPHFGDLSYAWTFNDNPLYVQEDNRRFVSQETGNLYIAKVEPSDVGNYTCFITNKEAQRSVQGP
PTPLVQRTDGVMGEYEPKIEVRFPETIQAAKDSSVKLECFALGNPVPDISWRRLDGSPLPGKVKYSKSQAILEIPNFQQEDEGFYECIASNLRGRNLAKGQLIFY
APPEWEQKIQNTHLSIYDNLLWECKASGKPNPWYTWLKNGERLNPEERIQIENGTLIITMLNVSDSGVYQCAAENKYQIIYANAELRVLASAPDFSKSPVKKKSF
VQVGGDIVIGCKPNAFPRAAISWKRGTETLRQSKRIFLLEDGSLKIYNITRSDAGSYTCIATNQFGTAKNTGSLIVKERTVITVPPSKMDVTVGESIVLPCQVSH
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MRLLWKLVILLPLINSSAGDGLLSRPIFTQEPHDVIFPLDLSKSEVILNCAANGYPSPHYRWKQNGTDIDFTMSYHYRLDGGSLAINSPHTDQDIGMYQCLATNL
LGTILSRKAKLQFAYIEDFETKTRSTVSVREGQGVVLLCGPPPHFGDLSYAWTFNDNPLYVQEDNRRFVSQETGNLYIAKVEPSDVGNYTCFITNKEAQRSVQGP
PTPLVQRTDGVMGEYEPKIEVRFPETIQAAKDSSVKLECFALGNPVPDISWRRLDGSPLPGKVKYSKSQAILEIPNFQQEDEGFYECIASNLRGRNLAKGQLIFY
APPEWEQKIQNTHLSIYDNLLWECKASGKPNPWYTWLKNGERLNPEERIQIENGTLIITMLNVSDSGVYQCAAENKYQIIYANAELRVLASAPDFSKSPVKKKSF
VQVGGDIVIGCKPNAFPRAAISWKRGTETLRQSKRIFLLEDGSLKIYNITRSDAGSYTCIATNQFGTAKNTGSLIVKERTVITVPPSKMDVTVGESIVLPCQVSH
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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) | 1 (7) | 0 (0) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (1) | 4 (11) |
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 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Hu J, 2015 | - | aCGH;FISH | - | - | ASD | - | - | - | - | 3724 | - | 3724 |
| C Yuen RK, 2017 | - | WGS | | | ASD | - | - | - | - | 1745 | - | - |
| Mercati O, 2017 | - | - | | | ASD | - | - | - | - | 1534 | 8936 | - |
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) |
|||||
| MIXED/OTHERS | |||||||||||
| Poot M, 2014_1 | Unknown | Illumina Infinium HumanHap300 Genotyping BeadChip SNP arrays | | | ASD | - - |
- | 117 (-) |
- 20-49? | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS 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 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.