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
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
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 arraysASD -
-
- 117
(-)
-
20-49?
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS 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 Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018