AutismKB

Evidence Detail for RAB39B


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Basic Information Top
Gene Symbol:RAB39B ( MRX72 )
Gene Full Name: RAB39B, member RAS oncogene family
Band: Xq28
Quick LinksEntrez ID:116442; OMIM: 300774; Uniprot ID:RB39B_HUMAN; ENSEMBL ID: ENSG00000155961
Sequences Top
>RAB39B|116442|nucleotide
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>RAB39B|116442|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 8 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked-72 (300271)
DescriptionX-linked ID associated with autism, epilepsy, and macrocephaly in two large pedigrees
Reference(s)20159109;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Giannandrea, 2010_1 human ---ASD genetics: mutation screen, protein function
  • Subjects: 186
  • Normal Controls: -
  • Methods: qRT-PCR, FISH
  • Evidence Details: We report here the identification of mutations in the small GTPase RAB39B gene in two male patients. Its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that RAB39B is required for synapse formation and maintenance.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
1.506 Up 0.0375
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 230075_at
  • RefSeq_ID/ EST: AV724323
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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