Variant Details for ABCC1
Basic Information Top
| Gene Symbol: | ABCC1 ( ABC29,ABCC,DKFZp686N04233,DKFZp781G125,GS-X,MRP,MRP1 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
| Band: | 16p13.11 |
| Quick Links | Entrez ID:4363; OMIM: 158343; Uniprot ID:MRP1_HUMAN; ENSEMBL ID: ENSG00000103222; HGNC ID: 51 |
| 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 | 11 | 0 | 1 | 1 | 0 | 1 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004620 | 4 | 4q32-34 | 154880550 | 176363006 | 21482456 | loss | external link | Ramanathan, 2004 |
| AutCNV0000196 | 16 | 16p13.1 | 14982499 | 16482499 | 1500000 | gain | external link | Ullmann, 2007 |
| AutCNV0000432 | 16 | 16p12.3-13.11 | 16123666 | 16822871 | 699205 | loss | external link | Gregory, 2009 |
| AutCNV0000431 | 16 | 16p12.3-13.11 | 16123666 | 16822871 | 699205 | loss | external link | Gregory, 2009 |
| AutCNV0000430 | 16 | 16p12.3-13.11 | 15985759 | 16822871 | 837112 | loss | external link | Gregory, 2009 |
| AutCNV0002899 | 16 | 16p13.11 | 14863532 | 16399812 | 1536280 | loss | external link | Pinto, 2010 |
| AutCNV0002111 | 16 | 16p13.11 | 15479879 | 16348605 | 868726 | gain | external link | Pinto, 2010 |
| AutCNV0004331 | 16 | 16p13.11 | 15445228 | 16463250 | 1018022 | gain | external link | Sanders, 2011 |
| AutCNV0003842 | 16 | 16p13.11 | 15583359 | 16383678 | 800319 | gain | external link | Levy, 2011 |
| AutCNV0000742 | 16 | 16p13.11 | 15479879 | 16363239 | 883360 | gain | external link | Bremer, 2011 |
| AutCNV0005160 | 14 | 14q11.2 | 21507092 | 21952439 | 445347 | loss | external link | Smyk M, 2016 |
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 |
|---|---|---|---|---|---|---|
| 16 | 16230394 | G | A | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 16142079 | G | T | Y | Cukier HN, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |