Variant Details for RHBDF1
Basic Information Top
| Gene Symbol: | RHBDF1 ( C16orf8,Dist1,EGFR-RS,FLJ2235,FLJ22357,gene-89,gene-90,hDist1 ) |
|---|---|
| Gene Full Name: | rhomboid 5 homolog 1 (Drosophila) |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:64285; OMIM: NA; Uniprot ID:RHDF1_HUMAN; ENSEMBL ID: ENSG00000007384; HGNC ID: 20561 |
| 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 | 3 | 0 | 0 | 0 | 0 | 2 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001580 | 16 | 16p13.3 | 60835 | 212649 | 151814 | gain | external link | Pinto, 2010 |
| AutCNV0004325 | 16 | 16p13.3 | 60835 | 1313637 | 1252802 | loss | external link | Sanders, 2011 |
| AutCNV0003839 | 16 | 16p13.3 | 81530 | 1315850 | 1234320 | loss | external link | Levy, 2011 |
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 |
|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000138 | 16p13.3 | 16 | D16S748 | - | - | 0.00117 | Lauritsen, 2006 |