Variant Details for COL11A1
Basic Information Top
| Gene Symbol: | COL11A1 ( CO11A1,COLL6,STL2 ) |
|---|---|
| Gene Full Name: | collagen, type XI, alpha 1 |
| Band: | 1p21.1 |
| Quick Links | Entrez ID:1301; OMIM: 120280; Uniprot ID:COBA1_HUMAN; ENSEMBL ID: ENSG00000060718; HGNC ID: 2186 |
| 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 | 0 | 2 | 2 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000448 | 1 | 1p21.1 | 103427497 | 104318068 | 890571 | loss | external link | Gregory, 2009 |
| AutCNV0000447 | 1 | 1p21.1 | 103309629 | 104318068 | 1008439 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|
| 1 | 103352554 | C | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 1 | 103380293 | C | T | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 102540234 | C | A | Doan RN, 2016 | |||||
| chr1 | 103453239 | G | A | p.R779X | Y | Yuen RK, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000045 | 1p21.1 | 1 | D1S1631 | 3.44 | - | - | Risch, 1999 |