Variant Details for MYT1L
Basic Information Top
| Gene Symbol: | MYT1L ( NZF1 ) |
|---|---|
| Gene Full Name: | myelin transcription factor 1-like |
| Band: | 2p25.3 |
| Quick Links | Entrez ID:23040; OMIM: 613084; Uniprot ID:MYT1L_HUMAN; ENSEMBL ID: ENSG00000186487; HGNC ID: 7623 |
| 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 | 6 | 0 | 6 | 0 | 2 | 15 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005755 | 2 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 1893073 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 2 | 1921023 | G | C | Sanger sequencing | deleterious | 0.6197 | De Rubeis S, 2014 | ||
| 2 | 1926950 | G | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 2 | 1921079 | A | G | c.1510T>C | p.Cys504Arg | PCR and Sanger sequencing | deleterious | 0.9774 | O'Roak BJ, 2014 |
| 2 | 1891360 | G | A/G | c.2542C>T | p.Gln848* | Sanger sequencing | Wang T, 2016 | ||
| 2 | 1926775 | ACTGT | A | HiSeq X and Sanger | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 1805521 | G | C/G | Y | Wang T, 2016 | ||||
| 2 | 1983537 | T | C/T | Y | Wang T, 2016 | ||||
| 2 | 1926150 | G | A/G | Y | Wang T, 2016 | ||||
| 2 | 1893047 | C | C/T | Y | Wang T, 2016 | ||||
| 2 | 1983308 | A | A/G | Y | Wang T, 2016 | ||||
| 2 | 1983321 | C | C/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 |
|---|---|---|---|---|---|---|---|
| AutLD0000070 | 2p25.3 | 2 | D2S319 | 1.2 | - | - | Buxbaum, 2001 |
| AutLD0000151 | 2p25.3-p24.1 | 2 | rs792065 | 1.87 | - | - | Allen-Brady, 2010 |