AutismKB 2.0

Evidence Details for CNTNAP5


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Basic Information Top
Gene Symbol:CNTNAP5 ( FLJ31966,caspr5 )
Gene Full Name: contactin associated protein-like 5
Band: 2q14.3
Quick LinksEntrez ID:129684; OMIM: 610519; Uniprot ID:CNTP5_HUMAN; ENSEMBL ID: ENSG00000155052; HGNC ID: 18748
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNTNAP5|129684|nucleotide
ATGGATTCTTTACCACGGCTGACCAGCGTTTTGACTTTGCTGTTCTCTGGCTTGTGGCATTTAGGATTAACAGCGACAAACTACAACTGTGATGATCCACTAGCA
TCCCTGCTCTCTCCAATGGCTTTTTCCAGTTCCTCAGACCTCACTGGCACTCACAGCCCAGCTCAACTCAACTGGAGAGTTGGAACTGGCGGTTGGTCCCCAGCA
GATTCCAATGCTCAACAGTGGCTCCAGATGGACCTGGGAAACAGAGTAGAGATTACAGCAGTGGCCACGCAGGGAAGATACGGAAGCTCTGACTGGGTGACGAGT
TACAGCCTGATGTTCAGTGACACAGGACGCAACTGGAAACAGTACAAACAAGAAGACAGCATCTGGACCTTTGCAGGAAACATGAATGCTGACAGCGTGGTGCAC
CACAAGCTATTGCACTCAGTGAGAGCCCGATTTGTTCGCTTTGTGCCCCTGGAATGGAATCCCAGTGGGAAGATTGGCATGAGAGTCGAGGTCTACGGATGTTCC
TATAAATCAGATGTTGCTGACTTTGATGGCCGAAGCTCACTTCTGTACAGGTTCAATCAGAAGTTGATGAGTACTCTCAAAGATGTGATCTCCCTGAAGTTCAAG
AGCATGCAAGGAGATGGGGTCCTGTTCCATGGAGAAGGTCAGCGTGGAGACCACATCACCTTGGAACTCCAGAAGGGGAGGCTCGCCCTACACCTCAATTTGGGT
GACAGCAAAGCGCGGCTCAGCAGCAGCTTGCCCTCTGCCACCCTGGGCAGCCTCCTGGATGACCAGCACTGGCACTCGGTCCTCATTGAGCGGGTGGGCAAGCAG
GTGAACTTCACGGTGGACAAGCACACACAGCACTTCCGCACCAAGGGCGAGACGGATGCCTTAGACATTGACTATGAGCTTAGTTTTGGAGGAATTCCAGTACCA
GGAAAACCTGGGACCTTTTTAAAGAAAAACTTCCATGGATGCATCGAAAACCTTTACTACAATGGAGTAAACATAATTGACCTGGCTAAGAGACGAAAGCATCAG
ATCTATACTGGCAATGTCACTTTTTCCTGCTCCGAACCACAGATTGTGCCCATCACATTTGTCAACTCCAGCGGCAGCTATTTGCTGCTGCCCGGCACCCCCCAA
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>CNTNAP5|129684|protein
MDSLPRLTSVLTLLFSGLWHLGLTATNYNCDDPLASLLSPMAFSSSSDLTGTHSPAQLNWRVGTGGWSPADSNAQQWLQMDLGNRVEITAVATQGRYGSSDWVTS
YSLMFSDTGRNWKQYKQEDSIWTFAGNMNADSVVHHKLLHSVRARFVRFVPLEWNPSGKIGMRVEVYGCSYKSDVADFDGRSSLLYRFNQKLMSTLKDVISLKFK
SMQGDGVLFHGEGQRGDHITLELQKGRLALHLNLGDSKARLSSSLPSATLGSLLDDQHWHSVLIERVGKQVNFTVDKHTQHFRTKGETDALDIDYELSFGGIPVP
GKPGTFLKKNFHGCIENLYYNGVNIIDLAKRRKHQIYTGNVTFSCSEPQIVPITFVNSSGSYLLLPGTPQIDGLSVSFQFRTWNKDGLLLSTELSEGSGTLLLSL
EGGILRLVIQKMTERVAEILTGSNLNDGLWHSVSINARRNRITLTLDDEAAPPAPDSTWVQIYSGNSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDL
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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 (1) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (4)
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
Pagnamenta, 2010 IMGSAC SNP microarray--ASD 1 - 1 - - - -
Linkage Studies Top