Variant Details for SLCO1B3
Basic Information Top
| Gene Symbol: | SLCO1B3 ( LST-3TM13,LST3,OATP1B3,OATP8,SLC21A8 ) |
|---|---|
| Gene Full Name: | solute carrier organic anion transporter family, member 1B3 |
| Band: | 12p12.2 |
| Quick Links | Entrez ID:28234; OMIM: 605495; Uniprot ID:SO1B3_HUMAN; ENSEMBL ID: ENSG00000111700; HGNC ID: 10961 |
| 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 | 1 | 0 | 2 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001119 | 12 | 12p12.2 | 21041634 | 21074038 | 32404 | loss | external link | Pinto, 2010 |
| AutCNV0004299 | 12 | 12p11.22-p12.3 | 17015267 | 29997799 | 12982532 | loss | external link | Sanders, 2011 |
| AutCNV0003966 | 12 | 12p12.2 | 20899503 | 21006495 | 106992 | loss | external link | Levy, 2011 |
| AutCNV0003831 | 12 | 12p12.3-p11.22 | 17016260 | 29990846 | 12974586 | loss | external link | Levy, 2011 |
| AutCNV0004926 | 17 | 34437128 | 36244358 | 1807230 | gain | external link | Tammimies K, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 21028412 | G | A | Sanger sequencing | De Rubeis S, 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 |
|---|---|---|---|---|---|---|---|---|---|
| chr12 | 21054330 | AT | p.598_599del | Y | Yuen RK, 2015 | ||||
| chr12 | 21008080 | AATTG | p.L68fs | Y | Yuen RK, 2015 |
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! | |||||||