Variant Details for COL4A3BP
Basic Information Top
| Gene Symbol: | COL4A3BP ( CERT,CERTL,FLJ20597,GPBP,STARD11 ) |
|---|---|
| Gene Full Name: | collagen, type IV, alpha 3 (Goodpasture antigen) binding protein |
| Band: | 5q13.3 |
| Quick Links | Entrez ID:10087; OMIM: 604677; Uniprot ID:C43BP_HUMAN; ENSEMBL ID: ENSG00000113163; HGNC ID: 2205 |
| 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 | 0 | 5 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 | 74675192 | T | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 5 | 74721237 | A | G | Sanger sequencing | neutral | 0.4536 | De Rubeis S, 2014 | ||
| 5 | 74793289 | T | C | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 5 | 74801861 | A | C | c.561T>G | p.Asp187Glu | Not_tested | neutral | 0.0206 | Takata A, 2018 |
| 0 | p.Ser260 | Geisheker MR, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||