Variant Details for SHANK1
Basic Information Top
| Gene Symbol: | SHANK1 ( SPANK-1,SSTRIP,synamon ) |
|---|---|
| Gene Full Name: | SH3 and multiple ankyrin repeat domains 1 |
| Band: | 19q13.33 |
| Quick Links | Entrez ID:50944; OMIM: 604999; Uniprot ID:SHAN1_HUMAN; ENSEMBL ID: ENSG00000161681; HGNC ID: 15474 |
| 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 | 2 | 2 | 0 | 9 | 0 | 1 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005742 | 19 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005741 | 19 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 51169513 | C | T | p.Gly1902Arg | Sanger | neutral | 0.0388 | Krumm N, 2015 | |
| 19 | 51190000 | C | C/T | c.2458+1G>A | Sanger sequencing | Wang T, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 51165505 | G | C/G | Y | Wang T, 2016 | ||||
| 19 | 51165728 | G | C/G | Y | Wang T, 2016 | ||||
| 19 | 51169881 | G | G/T | Y | Wang T, 2016 | ||||
| 19 | 51189517 | G | A/G | Y | Wang T, 2016 | ||||
| 19 | 51200908 | G | C/G | Y | Wang T, 2016 | ||||
| 19 | 51165851 | G | A/G | Y | Wang T, 2016 | ||||
| 19 | 51165250 | C | C/T | Y | Wang T, 2016 | ||||
| 19 | 51165632 | C | C/T | Y | Wang T, 2016 | ||||
| 19 | 51207735 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000119 | 19q13.33-13.41 | 19 | - | - | 1.64 | - | Spence, 2006 |