Variant Details for ASH1L
Basic Information Top
| Gene Symbol: | ASH1L ( ASH1,ASH1L1,FLJ10504,KIAA1420,KMT2H ) |
|---|---|
| Gene Full Name: | ash1 (absent, small, or homeotic)-like (Drosophila) |
| Band: | 1q22 |
| Quick Links | Entrez ID:55870; OMIM: 607999; Uniprot ID:ASH1L_HUMAN; ENSEMBL ID: ENSG00000116539; HGNC ID: 19088 |
| 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 | 11 | 0 | 23 | 0 | 0 | 35 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005754 | 1 | loss | C Yuen RK, 2017 |
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 | 155448915 | TTA | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 155340680 | C | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 1 | 155317482 | C | CCTTG | -2589Q? | Sanger | Krumm N, 2015 | |||
| 1 | 155348166 | C | C/T | c.6238G>A | p.Val2080Ile | Sanger sequencing | Wang T, 2016 | ||
| 1 | 155491090 | G | A/G | c.221C>T | p.Ser74Leu | Sanger sequencing | deleterious | 0.6564 | Wang T, 2016 |
| 1 | 155429689 | C | C/T | Sanger sequencing | Wang T, 2016 | ||||
| 1 | 155307491 | TTT | c.8868_8869delAAinsAAA | p.Arg2957LysfsTer19 | Stessman HA, 2017 | ||||
| 1 | 155448955 | G | c.3704_3705delCTinsC | p.Glu1236LysfsTer6 | Stessman HA, 2017 | ||||
| 1 | 155324287 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 1 | 155324287 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 1 | 155324288 | G | A | c.C7189T | p.R2397X | Tammimies K, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 155330150 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 155447834 | A | A/C | Y | Wang T, 2016 | ||||
| 1 | 155448076 | T | G/T | Y | Wang T, 2016 | ||||
| 1 | 155449669 | A | A/C | Y | Wang T, 2016 | ||||
| 1 | 155450475 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 155451250 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 155491232 | T | C/T | Y | Wang T, 2016 | ||||
| 1 | 155448300 | G | C/G | Y | Wang T, 2016 | ||||
| 1 | 155408629 | C | A/C | Y | Wang T, 2016 | ||||
| 1 | 155451888 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 155308057 | G | C/G | Y | Wang T, 2016 | ||||
| 1 | 155327420 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 155327441 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 155349842 | G | C/G | Y | Wang T, 2016 | ||||
| 1 | 155448058 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 155448078 | T | C/T | Y | Wang T, 2016 | ||||
| 1 | 155448115 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 155448636 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 155451028 | A | A/G | Y | Wang T, 2016 | ||||
| 1 | 155451147 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 155451197 | A | A/C | Y | Wang T, 2016 | ||||
| 1 | 155490913 | T | C/T | Y | Wang T, 2016 | ||||
| 1 | 155491173 | T | G/T | Y | Wang T, 2016 |
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! | |||||||