AutismKB 2.0

Evidence Details for RARRES3


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Basic Information Top
Gene Symbol:RARRES3 ( HRASLS4,MGC8906,PLA1/2-3,RIG1,TIG3 )
Gene Full Name: retinoic acid receptor responder (tazarotene induced) 3
Band: 11q12.3
Quick LinksEntrez ID:5920; OMIM: 605092; Uniprot ID:TIG3_HUMAN; ENSEMBL ID: ENSG00000133321; HGNC ID: 9869
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RARRES3|5920|nucleotide
ATGGCTTCGCCACACCAAGAGCCCAAACCTGGAGACCTGATTGAGATTTTCCGCCTTGGCTATGAGCACTGGGCCCTGTATATAGGAGATGGCTACGTGATCCAT
CTGGCTCCTCCAAGTGAGTACCCCGGGGCTGGCTCCTCCAGTGTCTTCTCAGTCCTGAGCAACAGTGCAGAGGTGAAACGGGAGCGCCTGGAAGATGTGGTGGGA
GGCTGTTGCTATCGGGTCAACAACAGCTTGGACCATGAGTACCAACCACGGCCCGTGGAGGTGATCATCAGTTCTGCGAAGGAGATGGTTGGTCAGAAGATGAAG
TACAGTATTGTGAGCAGGAACTGTGAGCACTTTGTCACCCAGCTGAGATATGGCAAGTCCCGCTGTAAACAGGTGGAAAAGGCCAAGGTTGAAGTTGGTGTGGCC
ACGGCGCTTGGAATCCTGGTTGTTGCTGGATGCTCTTTTGCGATTAGGAGATACCAAAAAAAAGCGACAGCCTGA






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>RARRES3|5920|protein
MASPHQEPKPGDLIEIFRLGYEHWALYIGDGYVIHLAPPSEYPGAGSSSVFSVLSNSAEVKRERLEDVVGGCCYRVNNSLDHEYQPRPVEVIISSAKEMVGQKMK
YSIVSRNCEHFVTQLRYGKSRCKQVEKAKVEVGVATALGILVVAGCSFAIRRYQKKATA



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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) 0 (0) 0 (0) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
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
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.08428 Up 0.0139347
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 204070_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.21 Up 0.0943
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1701613
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.53861 Up 0.45437
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1701613
  • 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