Evidence Detail for AHI1
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 Links | Entrez ID:54806; OMIM: 608894; Uniprot ID:AHI1_HUMAN; ENSEMBL ID: ENSG00000135541 |
Sequences Top Evidence Statistic TopClick 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 TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | Leber congenital amaurosis 2 (204100) |
| Description | Joubert 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; |
| Level | Level 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
| Reference | Population | #SNPs/ #VNTRs | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Alvarez Retuerto, 2008_1 | AGRE | 2 (detail) | 327 | 327 (-) |  |  | ASD | - - |
- - | |
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) TopOther Low Scale Gene Studies TopLarge 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 | |
| ||||||||||||
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.777508 | Down | - | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
0.602094 | Down | 0.00211205 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
CNV Studies TopLinkage 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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