Variant Details for KANK1
Basic Information Top
| Gene Symbol: | KANK1 ( ANKRD15,DKFZp451G231,KANK,KIAA0172,MGC43128 ) |
|---|---|
| Gene Full Name: | KN motif and ankyrin repeat domains 1 |
| Band: | 9p24.3 |
| Quick Links | Entrez ID:23189; OMIM: 607704; Uniprot ID:KANK1_HUMAN; ENSEMBL ID: ENSG00000107104; HGNC ID: 19309 |
| 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 | 16 | 1 | 0 | 1 | 0 | 1 | 19 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000084 | 9 | 9p13.3-24.3 | 249391 | 33926500 | 33677109 | gain | external link | Szatmari, 2007 |
| AutCNV0000083 | 9 | 9p24.3 | 249391 | 569992 | 320601 | gain | external link | Szatmari, 2007 |
| AutCNV0000038 | 9 | 9p24.3 | 249391 | 1609250 | 1359859 | gain | external link | Szatmari, 2007 |
| AutCNV0002707 | 9 | 9p24.3 | 102645 | 743353 | 640708 | gain | external link | Pinto, 2010 |
| AutCNV0000820 | 9 | 9p24.2-24.3 | 108998 | 3692923 | 3583925 | loss | external link | Pinto, 2010 |
| AutCNV0003625 | 9 | 9p24.3 | 327782 | 621779 | 293997 | gain | external link | Gai, 2011 |
| AutCNV0003291 | 9 | 9p24.3 | 520886 | 615310 | 94424 | loss | external link | Gai, 2011 |
| AutCNV0003290 | 9 | 9p24.3 | 438779 | 500979 | 62200 | loss | external link | Gai, 2011 |
| AutCNV0003289 | 9 | 9p24.3 | 391463 | 489338 | 97875 | gain | external link | Gai, 2011 |
| AutCNV0003287 | 9 | 9p24.3 | 46587 | 550782 | 504195 | gain | external link | Gai, 2011 |
| AutCNV0004282 | 9 | 9p24.2-p24.3 | 185632 | 3383495 | 3197863 | gain | external link | Sanders, 2011 |
| AutCNV0004281 | 9 | 9p24.2-p24.3 | 108998 | 3692923 | 3583925 | loss | external link | Sanders, 2011 |
| AutCNV0003948 | 9 | 9p24.3 | 625079 | 1073298 | 448219 | gain | external link | Levy, 2011 |
| AutCNV0003818 | 9 | 9p24.3-p24.2 | 202721 | 3386926 | 3184205 | gain | external link | Levy, 2011 |
| AutCNV0003627 | 9 | 9p24.3 | 406117 | 621779 | 215662 | gain | external link | Gai, 2011 |
| AutCNV0003626 | 9 | 9p24.3 | 329462 | 617501 | 288039 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 712508 | G | A | c.1268G>A | p.Cys423Tyr | Sanger sequencing | deleterious | 0.7109 | Sanders SJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 742297 | G | C | Q1263H | Toma C, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000146 | 9p24.3 | 9 | - | - | 3.44 | - | Allen-Brady, 2008 |