AutismKB 2.0

Evidence Details for RAB3A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RAB3A ( - )
Gene Full Name: RAB3A, member RAS oncogene family
Band: 19p13.11
Quick LinksEntrez ID:5864; OMIM: 179490; Uniprot ID:RAB3A_HUMAN; ENSEMBL ID: ENSG00000105649; HGNC ID: 9777
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAB3A|5864|nucleotide
ATGGCATCCGCCACAGACTCGCGCTATGGGCAGAAGGAGTCCTCGGATCAGAACTTCGACTACATGTTCAAGATTCTCATCATCGGCAACAGCAGCGTGGGCAAG
ACGTCCTTCCTCTTCCGCTATGCTGACGACTCGTTCACGCCTGCCTTCGTCAGCACCGTGGGCATCGACTTCAAGGTCAAGACCATCTATCGCAACGACAAGAGG
ATCAAGCTGCAGATCTGGGACACAGCAGGGCAAGAGCGGTACCGGACCATCACCACCGCATACTACCGGGGCGCTATGGGCTTCATCCTCATGTATGACATCACC
AACGAGGAATCCTTCAATGCAGTGCAGGACTGGTCCACCCAGATCAAGACCTACTCATGGGACAATGCCCAGGTGCTGCTGGTAGGAAACAAGTGTGACATGGAG
GATGAGCGGGTGGTGTCATCAGAACGTGGCCGGCAGCTAGCTGACCACCTTGGGTTCGAGTTCTTTGAGGCAAGCGCCAAGGACAACATTAACGTCAAGCAGACC
TTTGAGCGCCTGGTGGATGTCATCTGCGAGAAGATGTCCGAGTCGTTGGACACGGCGGACCCTGCGGTCACAGGCGCCAAGCAGGGCCCACAGCTCAGTGACCAG
CAGGTGCCACCGCACCAGGACTGCGCCTGCTGA




Show »

>RAB3A|5864|protein
MASATDSRYGQKESSDQNFDYMFKILIIGNSSVGKTSFLFRYADDSFTPAFVSTVGIDFKVKTIYRNDKRIKLQIWDTAGQERYRTITTAYYRGAMGFILMYDIT
NEESFNAVQDWSTQIKTYSWDNAQVLLVGNKCDMEDERVVSSERGRQLADHLGFEFFEASAKDNINVKQTFERLVDVICEKMSESLDTADPAVTGAKQGPQLSDQ
QVPPHQDCAC


Show »

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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 3 (3)
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: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
1.22 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: H14231
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
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

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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