Variant Details for KIRREL3
Basic Information Top
| Gene Symbol: | KIRREL3 ( KIAA1867,KIRRE,MGC126824,MGC126850,MRD4,NEPH2,PRO4502 ) |
|---|---|
| Gene Full Name: | kin of IRRE like 3 (Drosophila) |
| Band: | 11q24.2 |
| Quick Links | Entrez ID:84623; OMIM: 607761; Uniprot ID:KIRR3_HUMAN; ENSEMBL ID: ENSG00000149571; HGNC ID: 23204 |
| 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 | 1 | 4 | 0 | 7 | 0 | 0 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000093 | 11 | 11q23.2-25 | 113996790 | 134897790 | 20901000 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 126333180 | C | T | c.614G>A | p.Arg205Gln | Sanger sequencing | deleterious | 0.8227 | Neale BM, 2012 |
| 11 | 126333180 | C | T | Sanger sequencing | deleterious | 0.8227 | De Rubeis S, 2014 | ||
| 11 | 126343313 | C | T | Sanger sequencing | deleterious | 0.8623 | Yuen RK, 2016 | ||
| 11 | 126293121 | A | G | Sanger and Sequenom | Michaelson JJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 126333139 | C | A | Kalsner L, 2018 | |||||
| 11 | 126305185 | C | A | Kalsner L, 2018 | |||||
| 11 | 126314949 | C | T | Kalsner L, 2018 | |||||
| 11 | 126314895 | C | G | Kalsner L, 2018 | |||||
| 11 | 126314888 | G | A | Kalsner L, 2018 | |||||
| 11 | 126314949 | C | T | Kalsner L, 2018 | |||||
| 11 | 126785107 | A | T | Doan RN, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||