Variant Details for MLL
Basic Information Top
| Gene Symbol: | MLL ( ALL-1,CXXC7,FLJ11783,HRX,HTRX1,KMT2A,MLL/GAS7,MLL1A,TET1-MLL,TRX1 ) |
|---|---|
| Gene Full Name: | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) |
| Band: | 11q23 |
| Quick Links | Entrez ID:4297; OMIM: 159555; Uniprot ID:MLL1_HUMAN; ENSEMBL ID: ENSG00000118058; 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 | 1 | 4 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000093 | 11 | 11q23.2-25 | 113996790 | 134897790 | 20901000 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 118344818 | T | A | c.2944T>A | p.Ser982Thr | Sanger sequencing | neutral | 0.1040 | Neale BM, 2012 |
| 11 | 118344818 | T | A | Sanger sequencing | neutral | 0.1040 | De Rubeis S, 2014 | ||
| 11 | 118360578 | AC | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 11 | 118373178 | C | T | Deciphering Developmental , 2015 |
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! | |||||||