AutismKB

Evidence Detail for AHI1


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Basic Information Top
Gene Symbol:AHI1 ( AHI-1,DKFZp686J1653,FLJ14023,FLJ20069,JBTS3,ORF1,dJ71N10.1 )
Gene Full Name: Abelson helper integration site 1
Band: 6q23.3
Quick LinksEntrez ID:54806; OMIM: 608894; Uniprot ID:AHI1_HUMAN; ENSEMBL ID: ENSG00000135541
Sequences Top
>AHI1|54806|nucleotide
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>AHI1|54806|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) 3 (3) 0 (0) 1 (2) 1 (1) 0 (0) 7 (6)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMLeber congenital amaurosis 2 (204100)
DescriptionJoubert syndrome 3. Joubert syndrome is a clinically and genetically heterogeneous group of ciliopathies characterized by cerebellar ataxia, ID and breathing abnormalities, sometimes including retinal dystrophy and renal disease. ASD is a relatively frequent finding in patients with Joubert syndrome, present in 13-36% of patients. Ten genes have been implicated in Joubert syndrome, but so far, only 4 have been reported to be mutated in subjects with ASD/autistic traits
Reference(s)10511335; 15633174; 2015333;
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
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
Microarray Studies: 3
Reference Population 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%)
3.68834 Up 0.0288342
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 244699_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.777508 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1791006
  • 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%)
0.602094 Down 0.00211205
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1791006
  • 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 Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000130 6q23.3 6 D6S1009 - - 0.00741 Lauritsen, 2006
AutLD0000152 6q22.32-q24.1 6 rs1570056 1.81 - - Allen-Brady, 2010

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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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