Variant Details 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: | 5p15.31 |
| Quick Links | Entrez ID:9037; OMIM: 609297; Uniprot ID:SEM5A_HUMAN; ENSEMBL ID: ENSG00000112902; HGNC ID: 10736 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 5 | 2 | 0 | 1 | 1 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000020 | 5 | 5p15.1-15.2 | 9485490 | 15993000 | 6507510 | loss | external link | Szatmari, 2007 |
| AutCNV0000141 | 5 | 5p15.31-15.2 | 9222811 | 12652200 | 3429389 | loss | external link | Marshall, 2008 |
| AutCNV0000140 | 5 | 5p15.33-15.2 | 28949 | 13829933 | 13800984 | loss | external link | Marshall, 2008 |
| AutCNV0004242 | 5 | 5p15.2 | 9222811 | 12652200 | 3429389 | loss | external link | Sanders, 2011 |
| AutCNV0004241 | 5 | 5p15.2-p15.33 | 28949 | 13829933 | 13800984 | loss | external link | Sanders, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 9050563 | G | C | PCR or Sanger sequencing | deleterious | 0.9923 | Iossifov I, 2014 | ||
| 5 | 9119084 | GTGCTGGCAGCA | G | strong | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 9318508 | C | A | p.Q82H | Y | deleterious | 0.5456 | Brett M, 2014 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Weiss, 2009 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||