AutismKB 2.0

Evidence Details for RPS29


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Basic Information Top
Gene Symbol:RPS29 ( - )
Gene Full Name: ribosomal protein S29
Band: 14q21.3
Quick LinksEntrez ID:6235; OMIM: 603633; Uniprot ID:RS29_HUMAN; ENSEMBL ID: ENSG00000213741; HGNC ID: 10419
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPS29|6235|nucleotide
ATGGGTCACCAGCAGCTGTACTGGAGCCACCCGCGAAAATTCGGCCAGGGTTCTCGCTCTTGTCGTGTCTGTTCAAACCGGCACGGTCTGATCCGGAAATATGGC
CTCAATATGTGCCGCCAGTGTTTCCGTCAGTACGCGAAGGATATCGGTTTCATTAAGAAAGACCTGAGCTGTCTTCCTTGGCACTGCCTATGGAGGTGA









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>RPS29|6235|protein
MGHQQLYWSHPRKFGQGSRSCRVCSNRHGLIRKYGLNMCRQCFRQYAKDIGFIKKDLSCLPWHCLWR




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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 (1) 0 (0) 0 (0) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
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
Purcell, 2001_2 America cerebellum 9
(-)		-autism 4
(-)		 -1.41 Down -
  • Platform: UniGEM V2 array
  • ProbeSet: -
  • RefSeq_ID/ EST: AA715449
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)		-autism 16
(6.25%)		 1.20196 Up 0.52772
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2298818
  • 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%)		 1.24283 Up 0.0462052
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_2298818
  • 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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  (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


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