Variant Details for THSD7A
Basic Information Top
| Gene Symbol: | THSD7A ( KIAA0960 ) |
|---|---|
| Gene Full Name: | thrombospondin, type I, domain containing 7A |
| Band: | 7p21.3 |
| Quick Links | Entrez ID:221981; OMIM: 612249; Uniprot ID:THS7A_HUMAN; ENSEMBL ID: ENSG00000005108; HGNC ID: 22207 |
| 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 | 3 | 0 | 2 | 2 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002636 | 7 | 7p21.3 | 11554096 | 11606046 | 51950 | gain | external link | Pinto, 2010 |
| AutCNV0003599 | 7 | 7p21.3 | 11727335 | 11774901 | 47566 | loss | external link | Gai, 2011 |
| AutCNV0003927 | 7 | 7p21.3 | 11204316 | 12473114 | 1268798 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 7 | 11485770 | G | A | mosaic | PASM | Dou Y, 2017 |
| 7 | 11485770 | G | A | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 11704648 | A | - | Doan RN, 2016 | |||||
| 7 | 11704650 | C | T | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||