Variant Details for SPARCL1
Basic Information Top
| Gene Symbol: | SPARCL1 ( PIG33,SC1 ) |
|---|---|
| Gene Full Name: | SPARC-like 1 (hevin) |
| Band: | 4q22.1 |
| Quick Links | Entrez ID:8404; OMIM: 606041; Uniprot ID:SPRL1_HUMAN; ENSEMBL ID: ENSG00000152583; HGNC ID: 11220 |
| 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 | 1 | 2 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000130 | 4 | 4q21-23 | 86426849 | 103726763 | 17299914 | loss | external link | Jacquemont, 2006 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 88416183 | C | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 4 | 88412805 | G | A | c.C881T | p.T294M | neutral | 0.0081 | Tammimies K, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000012 | 4q21.23-22.3 | 4 | D4S2361/D4S2909 | 1.72 | - | - | Yonan, 2003 |