Variant Details for MLL3
Basic Information Top
| Gene Symbol: | MLL3 ( DKFZp686C08112,FLJ12625,FLJ38309,HALR,KIAA1506,KMT2C,MGC119851,MGC119852,MGC119853 ) |
|---|---|
| Gene Full Name: | myeloid/lymphoid or mixed-lineage leukemia 3 |
| Band: | 7q36.1 |
| Quick Links | Entrez ID:58508; OMIM: 606833; Uniprot ID:MLL3_HUMAN; ENSEMBL ID: ENSG00000055609; HGNC ID: |
| 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 | 3 | 2 | 0 | 0 | 2 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001418 | 7 | 7q36.1 | 152001188 | 152070158 | 68970 | gain | external link | Pinto, 2010 |
| AutCNV0001264 | 7 | 7q36.1 | 151660298 | 152070158 | 409860 | gain | external link | Pinto, 2010 |
| AutCNV0004270 | 7 | 7q36.1 | 152001188 | 152064983 | 63795 | loss | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 151842339 | G | K | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 7 | 151845251 | C | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 7 | 151932977 | AC | A | Sanger sequencing | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 7 | 151845714 | G | A | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 151836804 | G | C | Mosaic | Krupp DR, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000059 | 7q36.1 | 7 | D7S483 | 2.13 | - | - | Liu, 2001 |
| AutLD0000093 | 7q36.1 | 7 | D7S483 | 2 | - | - | Molloy, 2005 |