AutismKB 2.0

Evidence Details for RPS15


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Basic Information Top
Gene Symbol:RPS15 ( MGC111130,RIG )
Gene Full Name: ribosomal protein S15
Band: 19p13.3
Quick LinksEntrez ID:6209; OMIM: 180535; Uniprot ID:RS15_HUMAN; ENSEMBL ID: ENSG00000115268; HGNC ID: 10388
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPS15|6209|nucleotide
ATGGCAGAAGTAGAGCAGAAGAAGAAGCGGACCTTCCGCAAGTTCACCTACCGCGGCGTGGACCTCGACCAGCTGCTGGACATGTCCTACGAGCAGCTGATGCAG
CTGTACAGTGCGCGCCAGCGGCGGCGGCTGAACCGGGGCCTGCGGCGGAAGCAGCACTCCCTGCTGAAGCGCCTGCGCAAGGCCAAGAAGGAGGCGCCGCCCATG
GAGAAGCCGGAAGTGGTGAAGACGCACCTGCGGGACATGATCATCCTACCCGAGATGGTGGGCAGCATGGTGGGCGTCTACAACGGCAAGACCTTCAACCAGGTG
GAGATCAAGCCCGAGATGATCGGCCACTACCTGGGCGAGTTCTCCATCACCTACAAGCCCGTAAAGCATGGCCGGCCCGGCATCGGGGCCACCCACTCCTCCCGC
TTCATCCCTCTCAAGTAA






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>RPS15|6209|protein
MAEVEQKKKRTFRKFTYRGVDLDQLLDMSYEQLMQLYSARQRRRLNRGLRRKQHSLLKRLRKAKKEAPPMEKPEVVKTHLRDMIILPEMVGSMVGVYNGKTFNQV
EIKPEMIGHYLGEFSITYKPVKHGRPGIGATHSSRFIPLK



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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Schellenberg, 2006 USA microsatellite-based genomic screenautism 222 - 222 - - - -
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
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