AutismKB 2.0

Evidence Details for WFIKKN1


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Basic Information Top
Gene Symbol:WFIKKN1 ( C16orf12,MGC126651,MGC126655,RJD2,WFIKKN )
Gene Full Name: WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
Band: 16p13.3
Quick LinksEntrez ID:117166; OMIM: 608021; Uniprot ID:WFKN1_HUMAN; ENSEMBL ID: ENSG00000127578; HGNC ID: 30912
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WFIKKN1|117166|nucleotide
ATGCCCGCCCTACGTCCACTCCTGCCGCTCCTGCTCCTCCTCCGGCTGACCTCGGGGGCTGGCTTGCTGCCAGGGCTGGGGAGCCACCCGGGCGTGTGCCCCAAC
CAGCTCAGCCCCAACCTGTGGGTGGACGCCCAGAGCACCTGTGAGCGCGAGTGTAGCAGGGACCAGGACTGTGCGGCTGCTGAGAAGTGCTGCATCAACGTGTGT
GGACTGCACAGCTGCGTGGCAGCACGCTTCCCCGGCAGCCCAGCTGCGCCGACGACAGCGGCCTCCTGCGAGGGCTTTGTGTGCCCACAGCAGGGCTCGGACTGC
GACATCTGGGACGGGCAGCCCGTGTGCCGCTGCCGCGACCGCTGTGAGAAGGAGCCCAGCTTCACCTGCGCCTCGGACGGCCTCACCTACTACAACCGCTGCTAT
ATGGACGCCGAGGCCTGCCTGCGGGGCCTGCACCTCCACATCGTGCCCTGCAAGCACGTGCTCAGCTGGCCGCCCAGCAGCCCGGGGCCGCCGGAGACCACTGCC
CGCCCCACACCTGGGGCCGCGCCCGTGCCTCCTGCCCTGTACAGCAGCCCCTCCCCACAGGCGGTGCAGGTTGGGGGTACGGCCAGCCTCCACTGCGACGTCAGC
GGCCGCCCGCCGCCTGCTGTGACCTGGGAGAAGCAGAGTCACCAGCGAGAGAACCTGATCATGCGCCCTGATCAGATGTATGGCAACGTGGTGGTCACCAGCATC
GGGCAGCTGGTGCTCTACAACGCGCGGCCCGAAGACGCCGGCCTGTACACCTGCACCGCGCGCAACGCTGCTGGGCTGCTGCGGGCTGACTTCCCACTCTCTGTG
GTCCAGCGAGAGCCGGCCAGGGACGCAGCCCCCAGCATCCCAGCCCCGGCCGAGTGCCTGCCGGATGTGCAGGCCTGCACGGGCCCCACTTCCCCACACCTTGTC
CTCTGGCACTACGACCCGCAGCGGGGCGGCTGCATGACCTTCCCGGCCCGTGGCTGTGATGGGGCGGCCCGCGGCTTTGAGACCTACGAGGCATGCCAGCAGGCC
TGTGCCCGCGGCCCCGGCGACGCCTGCGTGCTGCCTGCCGTGCAGGGCCCCTGCCGGGGCTGGGAGCCGCGCTGGGCCTACAGCCCGCTGCTGCAGCAGTGCCAT
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>WFIKKN1|117166|protein
MPALRPLLPLLLLLRLTSGAGLLPGLGSHPGVCPNQLSPNLWVDAQSTCERECSRDQDCAAAEKCCINVCGLHSCVAARFPGSPAAPTTAASCEGFVCPQQGSDC
DIWDGQPVCRCRDRCEKEPSFTCASDGLTYYNRCYMDAEACLRGLHLHIVPCKHVLSWPPSSPGPPETTARPTPGAAPVPPALYSSPSPQAVQVGGTASLHCDVS
GRPPPAVTWEKQSHQRENLIMRPDQMYGNVVVTSIGQLVLYNARPEDAGLYTCTARNAAGLLRADFPLSVVQREPARDAAPSIPAPAECLPDVQACTGPTSPHLV
LWHYDPQRGGCMTFPARGCDGAARGFETYEACQQACARGPGDACVLPAVQGPCRGWEPRWAYSPLLQQCHPFVYGGCEGNGNNFHSRESCEDACPVPRTPPCRAC
RLRSKLALSLCRSDFAIVGRLTEVLEEPEAAGGIARVALEDVLKDDKMGLKFLGTKYLEVTLSGMDWACPCPNMTAGDGPLVIMGEVRDGVAVLDAGSYVRAASE
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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