AutismKB

Evidence Detail for HRAS


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Basic Information Top
Gene Symbol:HRAS ( C-BAS/HAS,C-H-RAS,C-HA-RAS1,CTLO,H-RASIDX,HAMSV,HRAS1,K-RAS,N-RAS,RASH1 )
Gene Full Name: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
Band: 11p15.5
Quick LinksEntrez ID:3265; OMIM: 190020; Uniprot ID:RASH_HUMAN; ENSEMBL ID: ENSG00000174775
Sequences Top
>HRAS|3265|nucleotide
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>HRAS|3265|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) 0 (0) 1 (1) 0 (0) 0 (0) 2 (3) 16 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMCostello syndrome (218040)
DescriptionCostello syndrome
Reference(s)16443854;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
Herault, 1993_1 - ---- genetics
  • Subjects: -
  • Normal Controls: -
  • Methods: restriction fragment length polymorphisms
  • Evidence Details: We report a positive association between autism and the locus containing the gene for HRAS-1.
Herault, 1995_1 - ---- genetics
  • Subjects: -
  • Normal Controls: -
  • Methods: -
  • Evidence Details: We report a positive association between autism and two HRAS markers, the 3' marker used in the initial study and an additional marker in exon 1.
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 1 functional rare mutation was found in ASD case, 0 in control
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000561 11 11p15.5 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000562 11 11p15.5 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
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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