Variant Details for DOCK8
Basic Information Top
| Gene Symbol: | DOCK8 ( FLJ00026,FLJ00152,FLJ00346,MRD2,ZIR8 ) |
|---|---|
| Gene Full Name: | dedicator of cytokinesis 8 |
| Band: | 9p24.3 |
| Quick Links | Entrez ID:81704; OMIM: 611432; Uniprot ID:DOCK8_HUMAN; ENSEMBL ID: ENSG00000107099; HGNC ID: 19191 |
| 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 | 22 | 2 | 0 | 36 | 0 | 1 | 61 |
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 |
| AutCNV0002709 | 9 | 9p24.3 | 161562 | 396836 | 235274 | gain | external link | Pinto, 2010 |
| AutCNV0002708 | 9 | 9p24.3 | 161562 | 272325 | 110763 | gain | external link | Pinto, 2010 |
| AutCNV0002707 | 9 | 9p24.3 | 102645 | 743353 | 640708 | gain | external link | Pinto, 2010 |
| AutCNV0002301 | 9 | 9p24.3 | 185632 | 290841 | 105209 | gain | external link | Pinto, 2010 |
| AutCNV0001918 | 9 | 9p24.3 | 185632 | 396836 | 211204 | gain | external link | Pinto, 2010 |
| AutCNV0000843 | 9 | 9p24.3 | 253594 | 372341 | 118747 | gain | external link | Pinto, 2010 |
| AutCNV0000820 | 9 | 9p24.2-24.3 | 108998 | 3692923 | 3583925 | loss | external link | Pinto, 2010 |
| AutCNV0000814 | 9 | 9p24.3 | 108998 | 344508 | 235510 | loss | external link | Pinto, 2010 |
| AutCNV0003289 | 9 | 9p24.3 | 391463 | 489338 | 97875 | gain | external link | Gai, 2011 |
| AutCNV0003288 | 9 | 9p24.3 | 264347 | 362749 | 98402 | 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 |
| AutCNV0004280 | 9 | 9p24.3 | 108998 | 344508 | 235510 | loss | external link | Sanders, 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 |
| AutCNV0003625 | 9 | 9p24.3 | 327782 | 621779 | 293997 | gain | external link | Gai, 2011 |
| AutCNV0003290 | 9 | 9p24.3 | 438779 | 500979 | 62200 | loss | 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 | 452034 | GT | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 9 | 339101 | T | C/T | c.1312+2T>C | Sanger sequencing | Wang T, 2016 |
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 | 312134 | G | A | Y | Cukier HN, 2014 | ||||
| 9 | 286635 | G | C/G | Y | Wang T, 2016 | ||||
| 9 | 368064 | C | C/G | Y | Wang T, 2016 | ||||
| 9 | 368088 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 376270 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 377154 | G | C/G | Y | Wang T, 2016 | ||||
| 9 | 407023 | C | C/T | Y | Wang T, 2016 | ||||
| 9 | 407069 | G | G/T | Y | Wang T, 2016 | ||||
| 9 | 420449 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 426926 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 428390 | G | A/G | Y | Wang T, 2016 | ||||
| 9 | 429850 | C | A/C | Y | Wang T, 2016 | ||||
| 9 | 432233 | T | G/T | Y | Wang T, 2016 | ||||
| 9 | 446533 | G | A/G | Y | Wang T, 2016 | ||||
| 9 | 446559 | G | A/G | Y | Wang T, 2016 | ||||
| 9 | 439258 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 371468 | G | A/G | Y | Wang T, 2016 | ||||
| 9 | 304594 | C | C/G | Y | Wang T, 2016 | ||||
| 9 | 311973 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 317062 | G | A/G | Y | Wang T, 2016 | ||||
| 9 | 215014 | C | C/T | Y | Wang T, 2016 | ||||
| 9 | 317064 | C | A/C | Y | Wang T, 2016 | ||||
| 9 | 328170 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 332450 | C | C/T | Y | Wang T, 2016 | ||||
| 9 | 336692 | C | A/C | Y | Wang T, 2016 | ||||
| 9 | 377191 | T | G/T | Y | Wang T, 2016 | ||||
| 9 | 379893 | G | A/G | Y | Wang T, 2016 | ||||
| 9 | 404946 | C | C/T | Y | Wang T, 2016 | ||||
| 9 | 405035 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 414871 | T | G/T | Y | Wang T, 2016 | ||||
| 9 | 428446 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 443440 | A | A/C | Y | Wang T, 2016 | ||||
| 9 | 443497 | C | C/T | Y | Wang T, 2016 | ||||
| 9 | 446455 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 463535 | G | C/G | Y | Wang T, 2016 | ||||
| 9 | 463555 | C | C/T | Y | Wang T, 2016 |
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 |