Variant Details for CROCC
Basic Information Top
| Gene Symbol: | CROCC ( KIAA0445,ROLT ) |
|---|---|
| Gene Full Name: | ciliary rootlet coiled-coil, rootletin |
| Band: | 1p36.13 |
| Quick Links | Entrez ID:9696; OMIM: NA; Uniprot ID:CROCC_HUMAN; ENSEMBL ID: ENSG00000058453; HGNC ID: 21299 |
| 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 | 15 | 3 | 0 | 0 | 0 | 0 | 18 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001539 | 1 | 1p36.13 | 17213883 | 17263377 | 49494 | loss | external link | Pinto, 2010 |
| AutCNV0001497 | 1 | 1p36.13 | 17046439 | 17267496 | 221057 | loss | external link | Pinto, 2010 |
| AutCNV0001493 | 1 | 1p36.13 | 17213883 | 17267496 | 53613 | loss | external link | Pinto, 2010 |
| AutCNV0001389 | 1 | 1p36.13 | 17213883 | 17267496 | 53613 | loss | external link | Pinto, 2010 |
| AutCNV0001388 | 1 | 1p36.13 | 16972610 | 17267496 | 294886 | loss | external link | Pinto, 2010 |
| AutCNV0001173 | 1 | 1p36.13 | 17213883 | 17267496 | 53613 | loss | external link | Pinto, 2010 |
| AutCNV0002319 | 1 | 1p36.13 | 17213369 | 17263377 | 50008 | loss | external link | Pinto, 2010 |
| AutCNV0001172 | 1 | 1p36.13 | 17213883 | 17267496 | 53613 | loss | external link | Pinto, 2010 |
| AutCNV0002318 | 1 | 1p36.13 | 17206918 | 17267496 | 60578 | loss | external link | Pinto, 2010 |
| AutCNV0001171 | 1 | 1p36.13 | 17206918 | 17267496 | 60578 | loss | external link | Pinto, 2010 |
| AutCNV0002317 | 1 | 1p36.13 | 17206918 | 17263377 | 56459 | loss | external link | Pinto, 2010 |
| AutCNV0000972 | 1 | 1p36.13 | 17213369 | 17274228 | 60859 | loss | external link | Pinto, 2010 |
| AutCNV0002316 | 1 | 1p36.13 | 17206918 | 17263377 | 56459 | loss | external link | Pinto, 2010 |
| AutCNV0000970 | 1 | 1p36.13 | 17213369 | 17275817 | 62448 | loss | external link | Pinto, 2010 |
| AutCNV0002235 | 1 | 1p36.13 | 17213369 | 17267496 | 54127 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 17250836 | A | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 17263235 | G | A | PCR or Sanger sequencing | neutral | 0.2238 | Iossifov I, 2014 | ||
| 1 | 17272061 | T | C | c.2096T>C | p.Leu699Pro | Not_tested | deleterious | 0.9229 | Takata A, 2018 |
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! | |||||||