Evidence Detail for IGFBP7
Basic Information Top
| Gene Symbol: | IGFBP7 ( AGM,FSTL2,IBP-7,IGFBP-7,IGFBP-7v,IGFBPRP1,MAC25,PSF,TAF ) |
|---|---|
| Gene Full Name: | insulin-like growth factor binding protein 7 |
| Band: | 4q12 |
| Quick Links | Entrez ID:3490; OMIM: 602867; Uniprot ID:IBP7_HUMAN; ENSEMBL ID: ENSG00000163453 |
Sequences Top
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) | No | 0 (1) | 3 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 5 (5) |
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
| Reference | Stage | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
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| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | 1 (detail) | 597 | - (-) | ![]() | ![]() | ASD | - - |
- - | ||
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 Top
Large Scale Expression Studies Top
Microarray Studies: 4
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) | ![]() | ![]() | autism | autism | 12 (25.00%) |
1.699 | Up | 0.00962 | |
| ||||||||||||
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | ![]() | ![]() | autism with early onset | autism | 12 (25.00%) |
1.723 | Up | 0.0265 | |
| ||||||||||||
| Gregg, 2008_3 | mixed | lymphoblastoid cell lines | 18 (16.67%) | ![]() | ![]() | autism with regression | autism | 12 (25.00%) |
1.543 | Up | 0.0471 | |
| ||||||||||||
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | ![]() | ![]() | - | autism | 16 (6.25%) |
1.46046 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
CNV Studies Top
| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000703 | 4 | 4q12 | Loss | null | null | CNVs Only Present In Patients; CNVs Not Present In Control; | Berkel, 2010 |
Linkage Studies Top
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