AutismKB 2.0

Evidence Details for RPS15A


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Basic Information Top
Gene Symbol:RPS15A ( FLJ27457,MGC111208,S15a )
Gene Full Name: ribosomal protein S15a
Band: 16p12.3
Quick LinksEntrez ID:6210; OMIM: 603674; Uniprot ID:RS15A_HUMAN; ENSEMBL ID: ENSG00000134419; HGNC ID: 10389
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPS15A|6210|nucleotide
ATGGTGCGCATGAATGTCCTGGCAGATGCTCTCAAGAGTATCAACAATGCCGAAAAGAGAGGCAAACGCCAGGTGCTTATTAGGCCGTGCTCCAAAGTCATCGTC
CGGTTTCTCACTGTGATGATGAAGCATGGTTACATTGGCGAATTTGAAATCATTGATGACCACAGAGCTGGGAAAATTGTTGTGAACCTCACAGGCAGGCTAAAC
AAGTGTGGGGTGATCAGCCCCAGATTTGACGTGCAACTCAAAGACCTGGAAAAATGGCAGAATAATCTGCTTCCATCCCGCCAGTTTGGTTTCATTGTACTGACA
ACCTCAGCTGGCATCATGGACCATGAAGAAGCAAGACGAAAACACACAGGAGGGAAAATCCTGGGATTCTTTTTCTAG







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>RPS15A|6210|protein
MVRMNVLADALKSINNAEKRGKRQVLIRPCSKVIVRFLTVMMKHGYIGEFEIIDDHRAGKIVVNLTGRLNKCGVISPRFDVQLKDLEKWQNNLLPSRQFGFIVLT
TSAGIMDHEEARRKHTGGKILGFFF



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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) 0 (0) 1 (1) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 5 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 3
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%)
1.30991 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2255310
  • 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.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
1.60256 Up 0.0010436
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_2255310
  • 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.
Kuwano, 2011_2 Japan Mother with ASD children 21
(100.00%)
---- 21
(100.00%)
-2.03 Down 0.00373
  • Platform: Agilent
  • ProbeSet: -
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE26415
  • Statistic Method: unpaired t test with Benjamini-Hochberg corrrection for multiple comparisons at the 0.05 FDR
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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  (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