Variant Details for ASXL3
Basic Information Top
| Gene Symbol: | ASXL3 ( KIAA1713 ) |
|---|---|
| Gene Full Name: | additional sex combs like 3 (Drosophila) |
| Band: | 18q12.1 |
| Quick Links | Entrez ID:80816; OMIM: NA; Uniprot ID:ASXL3_HUMAN; ENSEMBL ID: ENSG00000141431; HGNC ID: 29357 |
| 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 | 0 | 5 | 0 | 2 | 0 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 31322918 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 18 | 31323981 | C | CT | Sanger sequencing | De Rubeis S, 2014 | ||||
| 18 | 31324717 | C | T | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 18 | 31324717 | C | T | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 18 | 31323955 | C | c.4143dupC | p.Leu1395Profs*5 | Zhao JJ, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 31326012 | T | G | Y | Cukier HN, 2014 | ||||
| c.1682C>A | p.Ser561Ter | Bowling KM, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000141 | 18q12.1-21.1 | 18 | D18S536/D18S970 | - | - | 0.0022 | Lauritsen, 2006 |