Variant Details for ROCK1
Basic Information Top
| Gene Symbol: | ROCK1 ( MGC131603,MGC43611,P160ROCK,PRO0435 ) |
|---|---|
| Gene Full Name: | Rho-associated, coiled-coil containing protein kinase 1 |
| Band: | 18q11.1 |
| Quick Links | Entrez ID:6093; OMIM: 601702; Uniprot ID:ROCK1_HUMAN; ENSEMBL ID: ENSG00000067900; HGNC ID: 10251 |
| 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 | 2 | 3 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005675 | 18 | 18 | Krumm N, 2015 | |||||
| AutCNV0005669 | 18 | 18 | Krumm N, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 18572849 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 18 | 18566956 | T | C | Sequenom | Michaelson JJ, 2012 | ||||
| 18 | 18562716 | CACTTAC | CAC | HiSeq X and Sanger | C Yuen RK, 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! | |||||||