Variant Details for JAKMIP3
Basic Information Top
| Gene Symbol: | JAKMIP3 ( C10orf14,C10orf39,FLJ37857,FLJ41432,Jamip3,NECC2,bA140A10.5 ) |
|---|---|
| Gene Full Name: | Janus kinase and microtubule interacting protein 3 |
| Band: | 10q26.3 |
| Quick Links | Entrez ID:282973; OMIM: 611198; Uniprot ID:; ENSEMBL ID: ENSG00000188385; HGNC ID: 23523 |
| 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 | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000555 | 10 | 10q26.3 | 132726059 | 135524747 | 2798688 | loss | external link | Gregory, 2009 |
| AutCNV0000559 | 10 | 10q26.3 | 133851535 | 135524747 | 1673212 | loss | external link | Gregory, 2009 |
| AutCNV0000558 | 10 | 10q26.3 | 133753553 | 135524747 | 1771194 | loss | external link | Gregory, 2009 |
| AutCNV0000557 | 10 | 10q26.3 | 133753553 | 135524747 | 1771194 | loss | external link | Gregory, 2009 |
| AutCNV0000556 | 10 | 10q26.3 | 133327068 | 135524747 | 2197679 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 133950737 | T | Bramswig NC, 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! | |||||||