Variant Details for RFX3
Basic Information Top
| Gene Symbol: | RFX3 ( MGC87155,bA32F11.1 ) |
|---|---|
| Gene Full Name: | regulatory factor X, 3 (influences HLA class II expression) |
| Band: | 9p24.2 |
| Quick Links | Entrez ID:5991; OMIM: 601337; Uniprot ID:RFX3_HUMAN; ENSEMBL ID: ENSG00000080298; HGNC ID: 9984 |
| 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 | 6 | 2 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000084 | 9 | 9p13.3-24.3 | 249391 | 33926500 | 33677109 | gain | external link | Szatmari, 2007 |
| AutCNV0000820 | 9 | 9p24.2-24.3 | 108998 | 3692923 | 3583925 | loss | external link | Pinto, 2010 |
| AutCNV0004282 | 9 | 9p24.2-p24.3 | 185632 | 3383495 | 3197863 | gain | external link | Sanders, 2011 |
| AutCNV0004281 | 9 | 9p24.2-p24.3 | 108998 | 3692923 | 3583925 | loss | external link | Sanders, 2011 |
| AutCNV0003818 | 9 | 9p24.3-p24.2 | 202721 | 3386926 | 3184205 | gain | external link | Levy, 2011 |
| AutCNV0005690 | 9 | loss | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 3263017 | G | T | Sanger sequencing | neutral | 0.1153 | De Rubeis S, 2014 | ||
| 9 | 3248164 | TA | C | c.1835delTA | p.Leu612fs | Sanger sequencing | Li J, 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! | |||||||