Evidence Detail for SEMA5A
Basic Information Top
| Gene Symbol: | SEMA5A ( FLJ12815,SEMAF,semF ) |
|---|---|
| Gene Full Name: | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A |
| Band: | 5p15.2 |
| Quick Links | Entrez ID:9037; OMIM: 609297; Uniprot ID:SEM5A_HUMAN; ENSEMBL ID: ENSG00000112902 |
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 (3) | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 1 (1) | 22 (5) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Weiss, 2009_2 | Replication | 1 (detail) | 2073 | - (-) |  | | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | 1 (detail) | 597 | - (-) | |  | ASD | - - |
- - | ||
| MIXED/OTHERS | |||||||||||
| Weiss, 2009_1 | Discovery | 1 (detail) | 1038 | - (-) | | | 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| Reference | Orangnism | Tissue | ADI-R | ADOS | Diagnosis | Evidence Level | Result | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Weiss, 2009_3 | human | brain cortex (Brodmann area 19) | - | - | autism | RNA expression | ||||
| ||||||||||
Large Scale Expression Studies Top Microarray Studies: 1
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Melin, 2006_1 | Sweden | lymphoblastoid cell lines | 6 (50.00%) | | | - | autism | 6 (50.00%) |
0 | Down | 0.095 | |
| ||||||||||||
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 | ||||||
| AutCNV0000020 | 5 | 5p15.1-15.2 | loss | 1 | - | CNVs Overlapping With ACRD; | Szatmari, 2007 |
| AutCNV0000140 | 5 | 5p15.33-15.2 | loss | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000141 | 5 | 5p15.31-15.2 | loss | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0004241 | 5 | 5p15.2-p15.33 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004242 | 5 | 5p15.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 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.
