AutismKB 2.0

Evidence Details for CNTN6


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Basic Information Top
Gene Symbol:CNTN6 ( MGC133256,NB3 )
Gene Full Name: contactin 6
Band: 3p26.3
Quick LinksEntrez 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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>CNTN6|27255|protein
MRLLWKLVILLPLINSSAGDGLLSRPIFTQEPHDVIFPLDLSKSEVILNCAANGYPSPHYRWKQNGTDIDFTMSYHYRLDGGSLAINSPHTDQDIGMYQCLATNL
LGTILSRKAKLQFAYIEDFETKTRSTVSVREGQGVVLLCGPPPHFGDLSYAWTFNDNPLYVQEDNRRFVSQETGNLYIAKVEPSDVGNYTCFITNKEAQRSVQGP
PTPLVQRTDGVMGEYEPKIEVRFPETIQAAKDSSVKLECFALGNPVPDISWRRLDGSPLPGKVKYSKSQAILEIPNFQQEDEGFYECIASNLRGRNLAKGQLIFY
APPEWEQKIQNTHLSIYDNLLWECKASGKPNPWYTWLKNGERLNPEERIQIENGTLIITMLNVSDSGVYQCAAENKYQIIYANAELRVLASAPDFSKSPVKKKSF
VQVGGDIVIGCKPNAFPRAAISWKRGTETLRQSKRIFLLEDGSLKIYNITRSDAGSYTCIATNQFGTAKNTGSLIVKERTVITVPPSKMDVTVGESIVLPCQVSH
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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Hu J, 2015 - aCGH;FISH--ASD - - - - 3724 - 3724
Mercati O, 2017 - -ASD - - - - 1534 8936 -
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top