AutismKB 2.0

Evidence Details for CNTNAP3


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Basic Information Top
Gene Symbol:CNTNAP3 ( CASPR3,CNTNAP3A,RP11-138L21.1,RP11-290L7.1 )
Gene Full Name: contactin associated protein-like 3
Band: 9p12
Quick LinksEntrez ID:79937; OMIM: 610517; Uniprot ID:CNTP3_HUMAN; ENSEMBL ID: ENSG00000106714; HGNC ID: 13834
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNTNAP3|79937|nucleotide
ATGGCTTCAGTGGCCTGGGCCGTCCTCAAGGTGCTGCTGCTTCTCCCCACTCAGACTTGGAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTG
GCCTCTGCCTTGCCTAGGTCATCCTTCAGCAGCTCCTCAGAGCTGTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATGGAGCTGGTGGCTGG
ACTCCACTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGATATGGGAGCTCTGACTGG
GTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCTGGGGTTTTCCAGGAAACACAAACGCAGACAGT
GTGGTGCACTACAGACTCCAGCCTCCCTTTGAAGCCAGGTTCCTGCGCTTTCTCCCTTTAGCCTGGAACCCTAGGGGCAGGATTGGGATGCGGATCGAAGTGTAC
GGATGTGCATATAAATCTGAGGTGGTTTATTTTGATGGACAAAGTGCTCTGCTGTATAGACTTGATAAAAAACCTTTAAAACCAATAAGAGACGTTATTTCTTTG
AAATTTAAAGCCATGCAGAGCAATGGAATTCTACTTCACAGAGAAGGACAACATGGAAATCACATTACTCTGGAATTAATTAAAGGAAAGCTTGTCTTTTTTCTT
AATTCAGGCAATGCTAAGCTGCCTTCCACTATTGCTCCTGTGACCCTCACCCTGGGCAGCCTGCTGGACGACCAGCACTGGCATTCCGTCCTCATCGAGCTCCTC
GACACGCAGGTCAACTTCACCGTGGACAAACACACTCATCATTTCCAAGCAAAGGGAGATTCCAGTTACTTGGATCTTAATTTTGAGATCAGCTTTGGGGGAATT
CCGACACCCGGAAGATCGCGGGCATTCAGACGTAAAAGCTTTCATGGGTGTTTAGAAAATCTTTATTATAATGGAGTGGATGTTACCGAATTAGCCAAGAAACAC
AAACCACAGATCCTCATGATGGGAAATGTGTCCTTCTCATGTCCACAGCCACAGACTGTCCCTGTGACTTTTCTGAGCTCCAGGAGTTATCTGGCTCTGCCAGGC
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>CNTNAP3|79937|protein
MASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDLGERMEVTAVATQGGYGSSDW
VTSYLLMFSDGGRNWKQYRREESIWGFPGNTNADSVVHYRLQPPFEARFLRFLPLAWNPRGRIGMRIEVYGCAYKSEVVYFDGQSALLYRLDKKPLKPIRDVISL
KFKAMQSNGILLHREGQHGNHITLELIKGKLVFFLNSGNAKLPSTIAPVTLTLGSLLDDQHWHSVLIELLDTQVNFTVDKHTHHFQAKGDSSYLDLNFEISFGGI
PTPGRSRAFRRKSFHGCLENLYYNGVDVTELAKKHKPQILMMGNVSFSCPQPQTVPVTFLSSRSYLALPGNSGEDKVSVTFQFRTWNRAGHLLFGELRRGSGSFV
LFLKDGKLKLSLFQPGQSPRNVTAGAGLNDGQWHSVSFSAKWSHMNVVVDDDTAVQPLVAVLIDSGDTYYFGGCLDNSSGSGCKSPLGGFQGCLRLITIGDKAVD
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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) 0 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top