Evidence Detail for FHIT
Basic Information Top
| Gene Symbol: | FHIT ( AP3Aase,FRA3B ) |
|---|---|
| Gene Full Name: | fragile histidine triad gene |
| Band: | 3p14.2 |
| Quick Links | Entrez ID:2272; OMIM: 601153; Uniprot ID:FHIT_HUMAN; ENSEMBL ID: ENSG00000189283 |
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) | No | 2 (2) | 0 (0) | 2 (7) | 0 (0) | 0 (0) | 0 (0) | 16 (2) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_1 | Discovery | 1 (detail) | 124 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_2 | Replication | 1 (detail) | 110 | - (-) | | | AS | - (3-21) |
- >70 | ||
Case Control Based Association Studies: 0
| Reference | Stage | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
Other Low Scale Gene Studies TopLarge Scale Expression Studies TopCNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000004 | 3 | 3p14.2 | loss | 1 | - | Denovo CNVs; | Sebat, 2007 |
| AutCNV0000005 | 3 | 3p14.2 | gain | 1 | - | Denovo CNVs; | Sebat, 2007 |
| AutCNV0000336 | 3 | 3p14 | loss | 2 | - | CNVs Not Present In Control; Denovo CNVs; | Bucan, 2009 |
| AutCNV0001658 | 3 | 3p14.2 | loss | 1 | - | paternal | Pinto, 2010 |
| AutCNV0001659 | 3 | 3p14.2 | gain | 1 | - | paternal | Pinto, 2010 |
| AutCNV0003173 | 3 | 3p14.2 | loss | 1 | - | CNVs Only Present In Patients; | Gai, 2011 |
| AutCNV0003174 | 3 | 3p14.2 | loss | 1 | - | CNVs Only Present In Patients; | Gai, 2011 |
| AutCNV0003175 | 3 | 3p14.2 | loss | 1 | - | CNVs Only Present In Patients; | Gai, 2011 |
| AutCNV0003523 | 3 | 3p14.2 | loss | 1 | - | CNVs Only Present In Patients; | Gai, 2011 |
| AutCNV0003898 | 3 | 3p14.2 | loss | 1 | - | CNVs Only Present In Patients; | Levy, 2011 |
| AutCNV0004221 | 3 | 3p14.2 | loss | 1 | - | CNVs Only Present In Patients; | Sanders, 2011 |
| AutCNV0004222 | 3 | 3p14.2 | gain | 1 | - | CNVs Only Present In Patients; | Sanders, 2011 |
| AutCNV0004487 | 3 | 3p14.2 | loss | - | - | CNVs Only Present In Patients; | Nord, 2011 |
| AutCNV0004507 | 3 | 3p14.2 | loss | - | - | CNVs Only Present In Patients; | Nord, 2011 |
Linkage Studies TopContact 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.
