Evidence Details for CNTN5
Basic Information Top
| Gene Symbol: | CNTN5 ( HNB-2s,MGC163491,NB-2 ) |
|---|---|
| Gene Full Name: | contactin 5 |
| Band: | 11q22.1 |
| Quick Links | Entrez ID:53942; OMIM: 607219; Uniprot ID:CNTN5_HUMAN; ENSEMBL ID: ENSG00000149972; HGNC ID: 2175 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CNTN5|53942|nucleotide
ATGGCTTCCTCTTGGAAACTAATGCTGTTTCTGTCAGTCACCATGTGTCTTTCAGAGTATTCAAAATCTCTTCCTGGTCTCTCCACTTCATATGCTGCTTTGTTA
AGAATTAAGAAGAGTTCATCTTCATCTCTCTTTGGTTCCAAAACCAGACCACGATACAGCAGCCCTTCATTAGGAACACTGAGTGCTTCTTCACCCAGCTGGCTA
GGGGCAGCTCAGAATTATTATTCCCCCATCAATCTTTATCATTCCTCAGATGCCTTCAAACAAGATGAAAGTGTGGACTATGGGCCAGTTTTTGTGCAAGAACCA
GATGATATTATTTTTCCAACTGATTCTGATGAAAAGAAGGTAGCATTGAATTGTGAAGTTCGTGGCAATCCAGTTCCCAGTTACAGATGGCTTCGAAATGGAACA
GAAATAGATCTGGAAAGTGATTATCGCTACAGTTTGATAGATGGCACCTTCATTATAAGCAATCCAAGTGAAGCAAAGGATTCTGGTCATTATCAGTGTTTAGCA
ACCAACACTGTGGGGAGTATTCTTAGTAGAGAAGCTACACTGCAGTTTGCCTATCTGGGAAATTTTAGTGGCCGGACAAGAAGTGCAGTCTCTGTGAGGGAAGGC
CAGGGTGTCGTTCTGATGTGCTCTCCTCCGCCACATTCACCAGAGATCATCTATAGCTGGGTATTTAATGAGTTCCCTTCCTTTGTGGCGGAAGACAGCCGGCGG
TTCATCTCCCAGGAGACAGGCAACCTTTATATTTCTAAAGTCCAAACATCAGATGTTGGCAGCTATATTTGTCTGGTGAAAAACACAGTGACGAATGCTAGAGTC
CTTAGTCCTCCAACGCCACTCACTCTGCGTAATGATGGTGTGATGGGAGAATATGAGCCGAAAATTGAGGTCCATTTTCCTTTCACGGTTACAGCTGCTAAAGGA
ACAACTGTTAAGATGGAATGCTTTGCACTTGGCAACCCCGTTCCAACAATCACATGGATGAAGGTTAATGGTTATATTCCTAGTAAGGCACGTCTGCGGAAATCT
CAGGCGGTGCTGGAAATACCGAATGTACAGCTGGATGATGCAGGCATTTATGAGTGCAGAGCTGAAAACTCACGTGGAAAAAATTCCTTTCGTGGACAATTACAA
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ATGGCTTCCTCTTGGAAACTAATGCTGTTTCTGTCAGTCACCATGTGTCTTTCAGAGTATTCAAAATCTCTTCCTGGTCTCTCCACTTCATATGCTGCTTTGTTA
AGAATTAAGAAGAGTTCATCTTCATCTCTCTTTGGTTCCAAAACCAGACCACGATACAGCAGCCCTTCATTAGGAACACTGAGTGCTTCTTCACCCAGCTGGCTA
GGGGCAGCTCAGAATTATTATTCCCCCATCAATCTTTATCATTCCTCAGATGCCTTCAAACAAGATGAAAGTGTGGACTATGGGCCAGTTTTTGTGCAAGAACCA
GATGATATTATTTTTCCAACTGATTCTGATGAAAAGAAGGTAGCATTGAATTGTGAAGTTCGTGGCAATCCAGTTCCCAGTTACAGATGGCTTCGAAATGGAACA
GAAATAGATCTGGAAAGTGATTATCGCTACAGTTTGATAGATGGCACCTTCATTATAAGCAATCCAAGTGAAGCAAAGGATTCTGGTCATTATCAGTGTTTAGCA
ACCAACACTGTGGGGAGTATTCTTAGTAGAGAAGCTACACTGCAGTTTGCCTATCTGGGAAATTTTAGTGGCCGGACAAGAAGTGCAGTCTCTGTGAGGGAAGGC
CAGGGTGTCGTTCTGATGTGCTCTCCTCCGCCACATTCACCAGAGATCATCTATAGCTGGGTATTTAATGAGTTCCCTTCCTTTGTGGCGGAAGACAGCCGGCGG
TTCATCTCCCAGGAGACAGGCAACCTTTATATTTCTAAAGTCCAAACATCAGATGTTGGCAGCTATATTTGTCTGGTGAAAAACACAGTGACGAATGCTAGAGTC
CTTAGTCCTCCAACGCCACTCACTCTGCGTAATGATGGTGTGATGGGAGAATATGAGCCGAAAATTGAGGTCCATTTTCCTTTCACGGTTACAGCTGCTAAAGGA
ACAACTGTTAAGATGGAATGCTTTGCACTTGGCAACCCCGTTCCAACAATCACATGGATGAAGGTTAATGGTTATATTCCTAGTAAGGCACGTCTGCGGAAATCT
CAGGCGGTGCTGGAAATACCGAATGTACAGCTGGATGATGCAGGCATTTATGAGTGCAGAGCTGAAAACTCACGTGGAAAAAATTCCTTTCGTGGACAATTACAA
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>CNTN5|53942|protein
MASSWKLMLFLSVTMCLSEYSKSLPGLSTSYAALLRIKKSSSSSLFGSKTRPRYSSPSLGTLSASSPSWLGAAQNYYSPINLYHSSDAFKQDESVDYGPVFVQEP
DDIIFPTDSDEKKVALNCEVRGNPVPSYRWLRNGTEIDLESDYRYSLIDGTFIISNPSEAKDSGHYQCLATNTVGSILSREATLQFAYLGNFSGRTRSAVSVREG
QGVVLMCSPPPHSPEIIYSWVFNEFPSFVAEDSRRFISQETGNLYISKVQTSDVGSYICLVKNTVTNARVLSPPTPLTLRNDGVMGEYEPKIEVHFPFTVTAAKG
TTVKMECFALGNPVPTITWMKVNGYIPSKARLRKSQAVLEIPNVQLDDAGIYECRAENSRGKNSFRGQLQVYTYPHWVEKLNDTQLDSGSPLRWECKATGKPRPT
YRWLKNGVPLSPQSRVEMVNGVLMIHNVNQSDAGMYQCLAENKYGAIYASAELKILASAPTFALNQLKKTIIVTKDQEVVIECKPQGSPKPTISWKKGDRAVREN
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MASSWKLMLFLSVTMCLSEYSKSLPGLSTSYAALLRIKKSSSSSLFGSKTRPRYSSPSLGTLSASSPSWLGAAQNYYSPINLYHSSDAFKQDESVDYGPVFVQEP
DDIIFPTDSDEKKVALNCEVRGNPVPSYRWLRNGTEIDLESDYRYSLIDGTFIISNPSEAKDSGHYQCLATNTVGSILSREATLQFAYLGNFSGRTRSAVSVREG
QGVVLMCSPPPHSPEIIYSWVFNEFPSFVAEDSRRFISQETGNLYISKVQTSDVGSYICLVKNTVTNARVLSPPTPLTLRNDGVMGEYEPKIEVHFPFTVTAAKG
TTVKMECFALGNPVPTITWMKVNGYIPSKARLRKSQAVLEIPNVQLDDAGIYECRAENSRGKNSFRGQLQVYTYPHWVEKLNDTQLDSGSPLRWECKATGKPRPT
YRWLKNGVPLSPQSRVEMVNGVLMIHNVNQSDAGMYQCLAENKYGAIYASAELKILASAPTFALNQLKKTIIVTKDQEVVIECKPQGSPKPTISWKKGDRAVREN
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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 (2) | 1 (3) | 1 (1) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) | 0 (0) | 6 (10) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| 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 | - - |
- - | ||
| ASIAN | |||||||||||
| Cho, 2011_1 | - | FUJIFLM DNA Whole Blood Kit S and QuickGene 810 | 42 | 42 (-) | | | ASD | 77.7±22.6 months (49-149) months |
46.2±12.2 (31-65) | ||
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Krumm N, 2015 | - | - | - | - | - | 1266 | - | - | - | - | - | - |
| Mercati O, 2017 | - | - | | | ASD | - | - | - | - | 1534 | 8936 | - |
Linkage Studies Top