Variant Details for SGSM3
Basic Information Top
| Gene Symbol: | SGSM3 ( DKFZp761D051,MAP,RUSC3,RUTBC3 ) |
|---|---|
| Gene Full Name: | small G protein signaling modulator 3 |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:27352; OMIM: 610440; Uniprot ID:SGSM3_HUMAN; ENSEMBL ID: ENSG00000100359; HGNC ID: 25228 |
| 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 | 4 | 5 | 0 | 2 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000282 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | loss | external link | Prasad, 2000 |
| AutCNV0000277 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | gain | external link | Wassink, 2001 |
| AutCNV0003867 | 22 | 22q13.1 | 40495436 | 40771063 | 275627 | loss | external link | Levy, 2011 |
| AutCNV0004185 | 22 | 22q13.1 | 40720316 | 40895377 | 175061 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 40802589 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 22 | 40802589 | C | Y | p.Arg370Cys | Sanger sequencing | O'Roak BJ, 2012 | |||
| 22 | 40804965 | A | R | p.Asp644Gly | Sanger sequencing | O'Roak BJ, 2012 | |||
| 22 | 42475019 | A | p.Asp644Gly | O'Roak BJ, 2012 | |||||
| 22 | 42472643 | C | p.Arg370Cys | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 42472722 | T | Y | c.1185+2T>C | O'Roak BJ, 2012 | ||||
| 22 | 42474756 | G | R | c.1853+1G>A | O'Roak BJ, 2012 |
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! | |||||||