AutismKB 2.0

Evidence Details for S100A16


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Basic Information Top
Gene Symbol:S100A16 ( DT1P1A7,MGC17528,S100F )
Gene Full Name: S100 calcium binding protein A16
Band: 1q21.3
Quick LinksEntrez ID:140576; OMIM: NA; Uniprot ID:S10AG_HUMAN; ENSEMBL ID: ENSG00000188643; HGNC ID: 20441
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>S100A16|140576|nucleotide
ATGTCAGACTGCTACACGGAGCTGGAGAAGGCAGTCATTGTCCTGGTGGAAAACTTCTACAAATATGTGTCTAAGTACAGCCTGGTCAAGAACAAGATCAGCAAG
AGCAGCTTCCGCGAGATGCTCCAGAAAGAGCTGAACCACATGCTGTCGGACACAGGGAACCGGAAGGCTGCGGATAAGCTCATCCAGAACCTGGATGCCAATCAT
GATGGGCGCATCAGCTTCGATGAGTACTGGACCTTGATAGGCGGCATCACCGGCCCCATCGCCAAACTCATCCATGAGCAGGAGCAGCAGAGCAGCAGCTAG








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>S100A16|140576|protein
MSDCYTELEKAVIVLVENFYKYVSKYSLVKNKISKSSFREMLQKELNHMLSDTGNRKAADKLIQNLDANHDGRISFDEYWTLIGGITGPIAKLIHEQEQQSSS




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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) 1 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.30648 Up 2.19157
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1728049
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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