AutismKB 2.0

Evidence Details for C16orf3


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Basic Information Top
Gene Symbol:C16orf3 ( MGC132509 )
Gene Full Name: chromosome 16 open reading frame 3
Band: 16q24.3
Quick LinksEntrez ID:750; OMIM: 605179; Uniprot ID:CP003_HUMAN; ENSEMBL ID: ENSG00000221819; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C16orf3|750|nucleotide
ATGAAACTGTCCTCTGCTGCGGGGCAGGAGTCTCCAGGTCACCCCCATCCCTCCCCACCTGCCTGGACCCTGAAGAAGCCTTCTGAGTCTGTGGCTCAACGTGCG
ATGTGCAGTGCAAGGGCCTGCCCCGTAGCCTGCCCCGTAGGCTGCCCCATAGCCTGCCCCGTAAGCTGCCCCGTAGCCTGCCCCGTAGGCTGCCCCGTAGGCTCC
ATGGCCACTGCCCCACAAGGCCTGTCTCCACAGGAATGGGAAGCGGACAGGGAGACGGGCAGCAGCTCACATGCTGGGACAACGCAGTGTTCAATCCATTCTCCA
TCCAGCAGCTCCAGACATCTTTCCAGAACACAAACCTGA







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>C16orf3|750|protein
MKLSSAAGQESPGHPHPSPPAWTLKKPSESVAQRAMCSARACPVACPVGCPIACPVSCPVACPVGCPVGSMATAPQGLSPQEWEADRETGSSSHAGTTQCSIHSP
SSSSRHLSRTQT



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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
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