Variant Details for GON4L
Basic Information Top
| Gene Symbol: | GON4L ( DKFZp761I241,FLJ12923,FLJ20203,FLJ23040,GON-4,GON4,KIAA1606,MGC138817,MGC138818,RP11-243J18.4 ) |
|---|---|
| Gene Full Name: | gon-4-like (C. elegans) |
| Band: | 1q22 |
| Quick Links | Entrez ID:54856; OMIM: 610393; Uniprot ID:GON4L_HUMAN; ENSEMBL ID: ENSG00000116580; HGNC ID: 25973 |
| 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 | 1 | 1 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000459 | 1 | 1q22-23.1 | 155804696 | 156539912 | 735216 | gain | external link | Gregory, 2009 |
| AutCNV0000458 | 1 | 1q21-22 | 155680449 | 156433946 | 753497 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 155736011 | G | A | c.3253C>T | p.Leu1085Leu | Sanger sequencing | Sanders SJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 155735530 | A | C | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
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! | |||||||